Publicações Científicas

TESE DE PH.D.

A1. Pena, S.D.J. (1977) Double Labeling: A New Investigative Technique in Biochemical Genetics. Tese de Ph.D. defendida na University of Manitoba, Canadá, 229 pp.

PATENTE

A2. Pena, S.D.J. and Simpson, A.J.G. Fingerprinting using single specific primers in low stringency polymerase chainreaction conditions. US Patent # 5,599,674, February 27, 1997.

LIVROS

A3. Valadares, E.R., Pena, S.D.J. (1988) Manual Para o Exame Morfológico da Criança. Rio de Janeiro, Sociedade Brasileira de Pediatria, 68 pp.

A4. Pena, S.D.J., Chakraborty, R., Epplen, J., Jeffreys, A.J. (1993) DNA Fingerprinting: State of the Science. Basel, Birkhäuser Verlag. 459 pp .

A5. Pena, S.D.J. (org.) (2002) Homo brasilis : Aspectos Genéticos, Linguísticos, Históricos e Socioantropológicos da Formação do Povo Brasileiro. RibeirãoPreto , FUNPEC. 191 pp .

A6. Pena, S.D.J. (2007) À Flor da Pele: Reflexões de um Geneticista. Rio de Janeiro, Vieira & Lentz Casa Editorial, 111 pp.

A7. Pena, S.D.J. (2008) Humanidade sem raças? São Paulo, Publifolha, 67pp.

A8. Pena, S.D.J.(2009) Igualmente Diferentes. Belo Horizonte, Editora UFMG, 116pp.

A9. Pena, S. D. J. (2010) Themes in Transdisciplinary Research. Belo Horizonte, Editora UFMG, 364pp .

ARTIGOS

Inclui artigos de revisão e cartas ao editor.

B1. Pena, SDJ, Goodman HD (1973) The genetics of thanatophoric dwarfism. Pediatrics, 51, 104-109.

B2. Pena SDJ, Medovy H (1973) Child abuse and traumatic pseudocyst of the pancreas. Journal of Pediatrics, 83, 1026-1028.

B3. Pena SDJ (1973) Protein replacement therapy for genetic disease. Lancet, v. i, p. 907-907 (letter to the editor).

B4. Pena SDJ, Ray M, Loadman E, Hamerton JL (1974) A 48, XXXX female. Journal of Medical Genetics, ll, 211-215.

B5. Pena SDJ, Shokeir MHK (1974) Autosomal recessive cerebro-oculo-facio-skeletal (COFS) syndrome.Clinical Genetics, 5, 285-293.

B6. Pena SDJ, Shokeir MHK (1974) Syndrome of camptodactyly, multiple ankyloses, facial anomalies and pulmonary hypoplasia: a lethal condition. Journal of Pediatrics, 85, 373-375.

B7. Pena SDJ (1974) Kleeblattschadel dwarfism – which one? Syndrome Identification, 2, 27 (letter to the editor).

B8. Chudley AE, Bauder F, Ray M, McAlpine PJ, Pena SDJ, Hamerton JL (1974) Familial mental retardation in a family with an inherited chromosomal rearrangement. Journal of Medical Genetics, ll, 353-366.

B9. Pena SDJ, Shokeir MHK (1976) Syndrome of camptodactyly, multiple ankyloses, facial anomalies and pulmonary hypoplasia: further delineation and evidence for autosomal recessive inheritance. Birth Defects : Original Article Series. XII (5), 201-208.

B10. Pena SDJ, Ray M, McAlpine PJ, Ducasse GC, Briggs J, Hamerton JL (1976) Partial Trisomy 14: is there a syndrome? Birth Defects : Original Article Series. XII (5), 113-118.

B11. Wrogemann K, Pena SDJ (1976) Mitochondrial calcium overload: a general mechanism for cell necrosis in muscle diseases. Lancet, v. i, p. 672-674, 1976.

B12. Wrogemann K, Pena SDJ, Blanchaer MC, Reimer GD, Corby P (1977) SCINT II, an improved program for the statistical analysis of variably quenched dual-labeled liquid scintillation samples. Analytical Biochemistry, 81, 472-477.

B13. Pena SDJ, Evans J, Hunter AGW (1978) COFS Syndrome revisited. Birth Defects : Original Article Serie. XIV (6B), 205-213.

B14. Pena SDJ, Wrogemann K (1978) Searching for molecular defects in genetics diseases by the use of a double technique.I. Methodology and initial evaluation. Pediatric Research, 12, 887-893.

B15. Pena SDJ, Quillian NM, Hamerton JL, Wrogemann K (1978) Searching for Molecular defects in genetic diseases by the use of a double labeling technique.II. Deficiency of a basic protein in fibroblasts from patients with Pompe’s disease. Pediatric Research, 12, 894-898.

B16. Pena SDJ, Vust A, Tucker D, Hamerton JL, Wrogemann K (1978) Biochemical investigations in cultured skin fibroblasts fron patients with Duchenne muscular dystrophy. Clinical Genetics, l4, 50-54.

B17. Pena, S.D.J., Hughes, R.C. (1978) Cell-substratum adhesion mediated by the different forms of fibronectin. Cell Biology International Reports, 2, 339-344.

B18. Pena SDJ, Hughes RC (1978) Fibronectin-plasma membrane interactions in the adhesion and spreading of hamster fibroblasts. Nature, 276, 80-83.

B19. Pena SDJ (1978) Is Duchenne Muscular Dystrophy a simple genic disorder? Lancet. i, 630 (letter to the editor).

B20. Pena SDJ, Mills G, Hughes RC (1979) Two-dimensional electrophoresis of surface glycoproteins of normal BHK cells and ricin resistant mutants. Biochimica Biophysica Acta, v. 550, p. 100-109, 1979.

B21. Hughes RC, Pena SDJ, Clark J and Dourmashkin RR (1979) Molecular requirements for the adhesion and spreading of hamster fibroblasts. Experimental Cell Research, 121, 307-314.

B22. Pena SDJ, Mills G, Hughes RC, Aplin J (1980) Polypeptide heterogeneity of hamster and calf fibronectins. Biochemical Journal. 189, 337-347.

B23. Pena, SDJ (1980) A new technique for visualization of the cytoskeleton in cultured fibroblasts with Coomassie blue R250. Cell Biology International Reports, 4, 149-153.

B24. Pena, SDJ, Gordon, B.B., Karpati, G., Carpenter, S. (1981) Lectin Histochemistry of human muscle. Journal of Histochemistry and Cytochemistry, 29, 542-546.

B25. Pena SDJ (1981) Giant axonal neuropathy : intermediate filament aggregates in cultured skin fibroblasts. Neurology, 3l, 1470-1473.

B26. Pena SDJ (1982) Cleft lip and palate, congenital heart disease, scoliosis, short stature and mental retardation : the Pilotto syndrome. Birth Defects : Original Article Series. XVIII (3B), 183-186.

B27. Shafai J, Watters GV, Pena SDJ (1982) The branchio-skeletal-genital syndrome. Birth Defects : Original Article Series. XVIII (3B), 193-196

B28. Pena SDJ (1982) Giant axonal neuropathy : an inborn error of organization of intermediate filaments. Muscle & Nerve, 5, 166-172.

B29. Mukherjee BB, Mobry PM, Pena SDJ (1982) Retinoic acid inhibits tumorigenicity without restoration of microfilaments cables, EGF-binding, fibronectin and ornithine decarboxylase activity of a retrovirus-transformed mouse cell line. Experimental Cell Research, 138, 95-107.

B30. DeVouge MW, Mukherjee BB, Pena SDJ (1982) Kirsten murine sarcoma virus-coded p21ras may act on multiple targets to effect pleiotropic changes in transformed cells. Virology, 121, 327-344.

B31. Pena SDJ, Karpati G, Carpenter S, Hechtman P (1982) Effects of lidocaine on the lysosomes of cultured fibroblasts. Cell Biology International Reports, 6, 807-813.

B32. Gordon BB, Pena SDJ (1982) The surface glycoproteins of human skin fibroblasts detected after electrophoresis by the binding of peanut (Arachis hypogea) agglutinin and Ricinus communis (castor-bean) agglutinin I. Biochemical Journal, 208, 351-358

B33. Pena SDJ, Opas M, Kalnins VI, Carpenter S (1983) Immunocytochemical studies of intermediate filament aggregates and their relationship to microtubules in cultured skin fibroblasts from patients with giant axonal neuropathy. European Journal of Cell Biology, 31, 227-234.

B34. Durham HD, Pena SDJ, Carpenter S (1983) The neurotoxins 2, 5-hexanedione and acrylamide promote aggregation of intermediate filaments in cultured skin fibroblasts. Muscle & Nerve, 6, 631-637.

B35. Peterson A, Pena SDJ (1984) Relationship of genotype and in vitro contractility in mdg/mdg – +/+ “mosaic” myotubes. Muscle & Nerve, 7, 194-203.

B36. Holland PC, Pena SDJ, Guerin CW (1984) Developmental regulation of cell surface glycoproteins during myogenesis of rat L6 myoblasts. Biochemical Journal, 218, 465-473.

B37. Rocha GA, Pena SDJ (1984) Absence of polymorphism of human plasma fibronectin studied by immunoelectrophoresis. Human Heredity, 34, 334-336.

B38. Rocha GA, Pena SDJ (1987) A quantitative study of human amniotic fluid fibronectin in the second trimester of pregnancy. Revista Brasileira de Genética, X, 119-125.

B39. Pena SDJ, Karpati G, Carpenter S, Fraser FC (1987) The clinical consequences of X-chromosomal inactivation : Duchenne muscular dystrophy in one of monozygotic twins. Journal of the Neurological Sciences, 39, 337-344.

B40. Durham HD, Pena SDJ, Ecobichon DJ (1988) Hexacarbon effects on intermediate filament organization in human fibroblasts. Muscle & Nerve, 11, 160-165.

B41. Medeiros AC, Macedo AM, Pena SDJ (1988) A simple non-isotopic method for DNA fingerprinting with M13 phage. Nucleic Acids Research, 16, 10394.

B42. Pena SDJ and Penna MLF (1988) O prognatismo mandibular dos Habsburgo na família imperial brasileira. Revista Brasileira de Genética, 11, 1017-1021.

B43. Macedo AM, Medeiros AC, Pena SDJ (1989) A general method for efficient non-isotopic labeling of DNA probes cloned in M13 vectors: application to DNA fingerprinting. Nucleic Acids Research, 17, 4414.

B44. Penna MLF, Fontoura ER, Pena BMA, Pena SDJ (1989) Chromosome digestion with the restriction enzyme AluI: a simple method of C-banding. Revista Brasileira de Genética, 12, 127-131.

B45. Gontijo NF, Pena SDJ (1989). BNon-isotopic DNA fingerprinting in dried agarose gels. Fingerprint News, 1 (3): 6-7.

B46. Reis DA, Prado VF, Farah LM, Pena SDJ (1989) Immunochemical Studies of amniotic fluid of a 36, 000 polypeptide in pregnancies of fetuses with Down’s syndrome. Revista Brasileira de Genética, 12, 645-653.

B47. Medeiros AC, Macedo AM, Pena SDJ (1989) M13 Bioprints : Non-isotopic detection of individual-specific human DNA fingerprints with biotinylated M13 bacteriophage. Forensic Science International, 43, 275-280.

B48. Pena SDJ, Macedo AM, Braga VMM, Rumjanek FD, Simpson AJG (1990) F10, the gene for the glycine-rich major eggshell protein of Schistosoma mansoni recognizes a family of hypervariable minisatellites in the human genome. Nucleic Acids Research, 18, 7466.

B49. Prado VF, Reis DA, Pena SDJ (1990) Biochemical and immunochemical identification of the fetal polypeptides of human amniotic fluid in the second trimester of pregnancy. Brazilian Journal of Biological Research, 23, 121-131.

B50. Gontijo NF, Ribeiro JCC, Pena SDJ (1990) Direct hybridization of biotin labeled probes in dried agarose gels. Trends in Genetics, 6, 3.

B51. Macedo AM, Melo MN, Pena SDJ (1990) Identification of species of Leishmania by DNA fingerprinting. Fingerprint News, 2 (1), 11.

B52. Gontijo NF, Ribeiro JCC, Pena SDJ (1990) Non-isotopic hybridization in dried agarose gels with biotinylated oligonucleotide probes. Focus, 12, 55-57.

B53. Pena SDJ, Nunes AC (1990) DNA-POP and PATER: two simple computer programs for population studies and paternity analyses with DNA fingerprints. Fingerprint News, 2 (3), 7-8.

B54. Aguiar MJ, Machado MN, Pena SDJ (1991) SINDROMES: a program for computer-assisted diagnosis of malformation syndromes. Revista Brasileira de Genética, 13, 197-201.

B55. Pena SDJ, Macedo AM, Gontijo NF, Medeiros AC, Ribeiro JCC (1991) DNA BIOPRINTS: simple non-isotopic DNA fingerprints with biotinylated probes. Electrophoresis, 12, 146-152.

B56. Simpson AJG, Pena SDJ (1991) Host-related DNA sequences in the schistosome genome? Parasitology Today, 7, 266.

B57. Pena SDJ (1991) O projeto genoma humano, o terceiro mundo. BCaminhos, 1(3), 72-78

B58. Macedo AM, Martins MS, Chiari E, Pena SDJ (1992) DNA fingerprinting of Trypanosoma cruzi: a new tool for characterization of strains and clones. Molecular Biochemical Parasitology, 55, 147-154.

B59. Macedo AM, Melo MN, Gomes RF, Pena SDJ (1992) DNA fingerprints: a tool for identification and determination of the relationships between species and strains of Leishmania. Molecular Biochemical Parasitology, 53, 63-70.

B60. Guimarães EM, Brasileiro Filho G, Pena SDJ (1992) Human papillomavirus detection in cervical dysplasias and in condylomata acuminata by in situ hybridization with biotinylated DNA probes. Revista do Instituto de Medicina Tropical de São Paulo, 34, 309-314.

B61. Pena SDJ (1992) First South-North Human Genome Conference. Gene, 120, 327-328.

B62. Pena SDJ, Simpson AJG (1992) O paradigma genômico, o desenvolvimento da genética no Brasil. Anais do XVI Simpósio da Academia de Ciências do Estado de São Paulo.

B63. Dias Neto E, Souza CP, Rollinson D, Katz N, Pena SDJ, Simpson AJ (1993) Arbitrarily primed PCR allows the identification of strains and species of schistosomes. Molecular Biochemical Parasitology, 57, 83-88.

B64. Brasileiro Filho G, Pena SDJ (1993) Molecular biology techniques for diagnosis of infectious diseases. Revista da Sociedade Brasileira de Medicina Tropical, 25, 59-71.

B65. Santos FR, Pena SDJ, Epplen J (1993) Genetic and population study of a Y-linked tetranucleotide repeat DNA polymorphism with a simple non-isotopic technique. Human Genetics, 90, 655-656.

B66. Vallejo GA, Chiari E, Macedo AM, Pena SDJ (1993) A simple laboratory method for distinguishing between Trypanosoma cruzi and Trypanosoma rangeli. BTransactions of the Royal Society of Tropical Medicine and Hygiene, 87, 165-166.

B67. Dias Neto E, Santos FR, Pena SDJ, Simpson AJ (1993) Sex determination by low stringency PCR (LS-PCR).Nucleic Acids Research, 21, 763-764.

B68. Pena SDJ, Jeffreys AJ (1993) Breve introdução às impressões digitais de DNA. Revista Brasileira de Genética, 15, 857-879.

B69. Haddad LA, Pena SDJ (1993) CAT repeat polymorphism in a human expressed sequence tag (EST 00444) (D13S308). Human Molecular Genetics, 2, 1748.

B70. Pena SDJ, Souza KT, Andrade M, Chakraborty R (1994) Allele associations of two polymorphic microsatellites in intron 40 of the human von Willebrandt factor gene. BProceedings of the National Academy of Sciences of the U.S.A., 91, 723-727. 

B71. Pena SDJ, Barreto G, Vago AR, De Marco L, Reinach FC, Dias Neto E, Simpson AJG (1994) Sequence-specific “gene signatures” can be obtained by PCR with single specific primers at low stringency. Proceedings of the National Academy of Sciences of the U.S.A., 91, 1946-1949.

B72. Pena SDJ, Santos PC, Campos MCBN, Macedo AM (1994) Paternity testing in Brazil by DNA fingerprinting with the multilocus probe F10. Ciência & Cultura, 45, 236-240.

B73. Pena SDJ, Chakraborty R (1994) Paternity testing in the DNA era. Trends in Genetics, 10, 204-209.

B74. Vallejo GA, Macedo AM, Chiari E, Pena SDJ (1994) Kinetoplast DNA from Trypanosoma rangeli contains two distinct classes of minicircles with different size and molecular organization. Molecular Biochemical Parasitology, 67, 245-253.

B75. Pena SDJ (1994) Human individuality testing: applications in biomedicine. Ciência & Cultura, 46, 207-210.

B76. Pena SDJ (1994) Conflitos paradigmáticos, a ética do projeto genoma humano. Revista USP, 24, 68-73. (Publicado em 1995).

B77. Franco GR, Adams MD, Bento Soares M, Simpson AJG, Venter JC, Pena SDJ (1995) Identification of new Schistosoma mansoni genes by the EST strategy using a directional cDNA library. Gene, 152, 141-147.

B78. Tanaka M, Hirai H, LoVerde PT, Nagafuchi S, Franco GR, Simpson AJG, Pena SDJ (1995) Yeast artificial chromosome (YAC) – based genome mapping of the human trematode Schistosoma mansoni. Molecular Biochemical Parasitology, 69, 41-51.

B79. Pena HB, Souza CP, Simpson AJG, Pena SDJ (1995) Intracellular promiscuity in Schistosoma mansoni: nuclear transcribed DNA sequences are part of a mitochondrial minisatellite region. Proceedings of the National Academy of Sciences of the U.S.A., 92, 915-919.

B80. Franco GR, Simpson AJG, Pena SDJ (1995) Sequencing and identification of expressed Schistosoma mansoni genes by random selection of cDNA clones from a directional library. Memórias do Instituto Oswaldo Cruz, 90, 215-216.

B81. Simpson AJG, Dias Neto E, Pena HB, Pena SDJ (1995) The detection of DNA polymorphism in schistosomes and their snail hosts. Memórias do Instituto Oswaldo Cruz, 90, 211-213.

B82. Pena SDJ (1995) Pitfalls of paternity testing based solely on PCR analysis of minisatellites and microsatellites. American Journal of Human Genetics, 56, 1503-1504.

B83. Villa LL, Caballero OL, Levi JE, Pena SDJ, Simpson AJG (1995) An approach to human papillomavirus identification using low stringency single specific primer PCR. Molecular Cellular Probes, 9, 45-48.

B84. Alves MSD, Martins MS, Pena SDJ (1995) A monoclonal antibody against a 52K sperm surface protein inhibits sperm-zona pellucida interactions in the rat. Journal of Experimental Zoology, 272, 123-133.

B85. Pena SDJ (1995) Mysterious migrations. Genome Digest 2(4), 7-8.

B86. Gomes RF, Macedo AM, Melo NM, Pena SDJ (1995) Leishmania (Viannia) brasiliensis: genetic relationships between strains isolated from different areas of Brazil as revealed by DNA fingerprinting and RAPD. Experimental Parasitology, 80, 681-687.

B87. Pena SDJ, Santos FR, Bianchi NO, Bravi C, Carnese F, Rothhammer F, Gerelsaikhan T, Munkhtuja B, Oyunsuren T (1995) Identification of a major founder Y chromosome haplotype in Amerindians. Nature Genetics, 11, 15-16.

B88. Santos FR, Pena SDJ, Tyler-Smith C (1995) PCR haplotypes for the human Y chromosome based on alphoid satellite variants and heteroduplex analysis. Gene, 165, 191-198.

B89. Santos FR, Hutz M, Coimbra CEA, Santos RV, Salzano FM, Pena SDJ (1995) Further evidence for the existence of a major founder Y chromosome haplotype in Amerindians. Brazilian Journal of Genetics, 18, 669-672

B90. Pena SDJ (1995) The human genome diversity project and the peopling of the Americas. Brazilian Journal of Genetics, 18, 641-643.

B91. Pena SDJ, Prado VF and Epplen JT (1995) Diagnosis of human genetic individuality. Journal of Molecular Medicine, 73, 555-564.

B92. Barreto G, Vago AR, Ginther CL, Simpson AJG, Pena SDJ (1996) Mitochondrial D-loop “signatures” produced by Low-Stringency Single Specific Primer PCR (LSSP-PCR) constitute a simple comparative human identity test. American Journal of Human Genetics, 58, 609-616.

B93. Santos FR, Gerelsaikhan T, Munkhtuja B, Oyunsuren T, Epplen JT, Pena SDJ (1996) Geographic differences in the allele frequencies of the human Y-linked tetranucleotide polymorphism DYS19. Human Genetics, 97, 309-313.

B94. Carakushansky G, Aguiar MB, Ribeiro MG, Berthier CO, Kahn E, Pena SDJ (1996) Identical twin discordance for the Brachmann-de Lange syndrome revisited. American Journal of Medical Genetics, 63, 458-460.

B95. Pena SDJ (1996) Third World participation in genome projects. Trends in Biotechnology, 14, 74-77.

B96. Santos FR, Rodriguez-Delfin L, Pena SDJ, Moore J and Weiss K (1996) North and South Amerindians may have the same major founder Y chromosome haplotype. American Journal of Human Genetics, 58, 1369-1370.

B97. Haddad LA, Mingroni-Neto RC, Vianna-Morgante AM, Pena SDJ (1996) A PCR-based diagnostic test for Fragile X syndrome suitable for screening among mentally retarded males. Human Genetics, 97: 808-812.

B98. Franco GR, Pena SDJ (1996) A small directory of World Wide Web sites for human molecular genetics. Brazilian Journal of Genetics, 19, 371-374.

B99. Santos FR, Bianchi NO, Pena SDJ (1996) Worldwide distribution of human Y chromosome haplotypes. Genome Research, 6, 601-611.

B100. Dias Neto E, Harrop R, Correa-Oliveira R, Pena SDJ, Wilson RA, Simpson JG (1996) The Schistosome genome project: RNA arbitrarily primed PCR allows the accelerated generation of expressed sequence tags. Memórias do Instituto Oswaldo Cruz, 91, 655-657.

B101. Vago AR, Macedo AM, Oliveira RP, Andrade LO, Chiari E, Galvão LMC, Reis DA, Pereira MES, Simpson AJG, Tostes S, Pena SDJ (1996) kDNA signatures of Trypanosoma cruzi strains obtained directly from infected tissues. American Journal of Pathology, 149, 2153-2159.

B102. Dias Neto E, Harrop R, Correa-Oliveira R, Wilson RA, Pena SDJ, Simpson JG (1997) Minilibraries constructed from cDNA generated by arbitrarily primed RT-PCR: an alternative to normalized libraries for generation of ESTs from nanogram quantities of mRNA. Gene, 186, 135-142.

B103. Bianchi NO, Baillet G, Bravi CM, Carnese RF, Rothhammer F, Martinez-Marignac VL, Pena SDJ (1997) The origin of Amerindian Y-chromosomes as inferred by the analysis of six polymorphic markers. American Journal of Physical Anthropology, 102, 79-89.

B104. Oliveira R, Macedo AM, Chiari E, Pena SDJ (1997) Alternative approaches to evaluate the intraspecific genetic variability of parasites. Parasitology Today, 13, 196-200.

B105. Vago AR, Pena SDJ (1997) Laboratory techniques for the detection of mutations in DNA. Brazilian Journal of Genetics, 20, 339-344.

B106. Franco GR, Rabelo EML, Azevedo V, Pena HB, Ortega JM, Santos TM, Meira WSF, Rodrigues NA, Dias CMM, Harrop R, Wilson A, Saber M, Abdel-Hamid H, Faria MSC, Margutti MEB, Parra JC, Pena SDJ (1997) Evaluation of cDNA libraries from different developmental stages of Schistosoma mansoni for production of expressed sequence tags (ESTs). DNA Research, 4, 231-240.

B107. Haddad LO, Fuzikawa A, Pena SDJ (1997) Simultaneous detection of size and sequence variation in the polymorphic microsatellite D2S184A (EST 00493). Human Genetics, 99, 796-800.

B108. Janotti-Passos LK, Vidigal THDA, Dias-Neto E, Pena SDJ, Simpson AJG, Dutra WO, Souza CP and Carvalho-Parra JF (1997) PCR amplification of the mitochondrial DNA minisatellite region to detect Schistosoma mansoni infection in Biomphalaria glabrata snails. Journal of Parasitology, 83, 395-399.

B109. Dias-Neto E, Caballero OLSD, Vidigal THDA, Pena SDJ, Simpson AJG (1997) Partially degraded DNA of parasitological interest serves as an adequate template for the production of Random Amplified Polymorphic DNAs (RAPDs). Journal of Parasitology, 83, 753-755.

B110. Rabelo EML, Franco GR, Azevedo V, Pena HB, Santos TM, Meira WSF, Rodrigues NA, Ortega JM, Pena SDJ (1997) Update of the gene discovery program in Schistosoma mansoni with the expressed sequence tag approach. Memórias do Instituto Oswaldo Cruz, 92: 625-629.

B111. Hirsch C, Carvalho-Queiroz C, Franco GR, Pena SDJ, Simpson AJG, Goes AMB (1997) Evidentiation of Paramyosin (Sm-97) as a modulating antigen on granulomatous hypersensitivity to Schistosoma mansoni eggs. Memórias do Instituto Oswaldo Cruz, 92: 663-667.

B112. Pena SDJ, Carvalho-Silva DR, Santos FR (1997) Utilização de polimorfismos de DNA do cromossomo Y no estudo do povoamento das Américas. Revista USP, 34: 44-57.

B113. Fuzikawa AK, Haddad LA, Cunha-Melo JR, Brasileiro Filho G, Pena SDJ (1997) Utilization of microsatellites for the analysis of the genomic alterations of colorectal cancers in Brazil. Brazilian Journal of Medical and Biological Research, 30: 915-921.

B114. Prado VF, Castro AKF, Oliveira CL, Souza KT, Pena SDJ (1997) Extraction of DNA from human skeletal remains: practical application in forensic sciences. B Genetic Analysis (Biomolecular Engineering), 14: 41-44..

B115. Haddad LA, Pena SDJ (1997) EST00444 (D13S308E) maps to 13q12.1. Cytogenetics and Cell Genetics, 78: 20.

B116. Franco G, Garratt R, Tanaka M, Simpson AJG, Pena SDJ (1997) Characterization of a Schistosoma mansoni gene encoding a homologue of the Y-box binding protein. Gene, 198: 5-16.

B117. Pena SDJ (1997) O DNA como (única) testemunha em determinação de paternidade. BBioética, 5: 231-241.

B118. Macedo AM, Pena SDJ (1998) Genetic variability of Trypanosoma Cruzi: Implications for the pathogenesis of Chagas’ disease. Parasitology Today, 14: 119-124.

B119. Oliveira RP, Broude NE, Macedo AM, Cantor CR, Smith CL, Pena SDJ (1998) Probing the genetic population structure of Trypanosoma cruzi with polymorphic microsatellites. Proceedings of the National Academy of Sciences of the U.S.A., 95: 3776-3780.

B120. Gomes ML, Macedo AM, Vago AM, Pena SDJ, Galvão LMC, Chiari E (1998) Trypanosoma cruzi: optimization of polymerase chain reaction for detection in human blood. Experimental Parasitology, 88: 28-33.

B121. Sturzeneker R, Haddad LA, Bevilacqua RAU, Simpson AJG, Pena SDJ (1998) Polarity of mutations in tumor-associated microsatellite instability. Human Genetics, 102: 231-235.

B122. Gomes ML, Macedo AM, Pena SDJ, Chiari E (1998) Genetic relationship between Trypanosoma Cruzi strains isolated from chronic chagasic patients on Southern Brazil as revealed by RAPD and SSR-PCR analysis. Acta Tropica, 69: 99-109.

B123. Guerra-Sá R, Franco GR, Pena SDJ, Rodrigues V (1998) Lactate dehydrogenase: sequence and analysis of its expression during the life cycle of Schistosoma mansoni. Memórias do Instituto Oswaldo Cruz, 93, Suppl. 1, 205-206.

B124. Rabelo EML, Hobaika ABS, Coelho PMZ, Pena SDJ (1998) Sequencing and expression analysis of a schistosoma mansoni gene homologue to a Drosophila gene involved in germ plasm assembly. Memórias do Instituto Oswaldo Cruz, 93, Suppl. 1, 207-209.

B125. Meira WSF, Franco GR, Rabelo EML, Pena SDJ (1998) Characterization of an abundant Schistosoma mansoni transcript with no homologs in the databases. Memórias do Instituto Oswaldo Cruz, 93, Suppl. 1, 211-213.

B126. Pena SDJ (1998) Molecular cytogenetics I: PCR-based diagnosis of human trisomies using computer-assisted laser densitometry. Genetics and Molecular Biology, 21: 317-322.

B127. Franco G, Simpson AJG, Pena SDJ (1998) Cloning and characterization of a Schistosoma mansoni homologue of the gene encoding the L13 ribosomal protein (breast basic conserved protein 1). Comparative Biochemistry and Physiology, Part B. 120: 701-708.

B128. Haddad LA, Parra FC, Pena SDJ (1998) Characterization and mapping of four novel human expressed polymorphic trinucleotide microsatellites. GENE, 223, 369-374.

B129. Zouain CS, Azevedo VA, Franco GR, Pena SDJ, Goes, A.M. (1998) Identification of genes encoding Schistosoma mansoni antigens using an Antigenic Sequence Tag strategy. Journal of Parasitology, 84:1307-1310 .

B130. Pena SDJ (1998) Molecular cytogenetics II: PCR-based diagnosis of chromosomal deletions and microdeletion syndromes. Genetics and Molecular Biology, 21: 453-460.

B131. Alves-Silva J, Guimarães PBM, Rocha JM, Pena SDJ and Prado VF (1999) Identification in Portugal and Brazil of a mtDNA lineage containing a 9-bp triplication in the intergenic COII/tRNALys region. Human Heredity, 49:56-58.

B132. Santos FR, Pandya A, Tyler-Smith C, Pena SDJ, Schanfield M, Leonard WR, Osipova L, Crawford MH, Mitchell RJ (1999) The central Siberian origin for Native American chromosomes. American Journal of Human Genetics, 64: 619-628.

B133. Gomes ML, Galvão LMC, Macedo AM, Pena SDJ, Chiari E (1999) Chagas’ disease diagnosis: comparative analysis of parasitologic, molecular, and serologic methods. American Journal of Tropical Medicine and Hygiene, 60: 205-210.

B134. Pena, S.D.J. (1999) Origin of the Amerindians. Science 283: 2017. (Letter to the Editor).

B135. Alves-Silva J, Santos MS, Pena SDJ and Prado VF (1999) High frequency of the 9-bp mtDNA deletion among Brazilian Caucasians. Human Biology, 71: 245-259.

B136. Haddad LA, Aguiar MJB, Costa SS, Mingroni-Neto RC, Vianna-Morgante AM, Pena SDJ (1999) Fully mutated and gray-zone FRAXA alleles in Brazilian mentally retarded boys. American Journal of Medical Genetics, 97: 808-812.

B137. Vercesi A, Carvalho MR, Aguiar MJB, Pena SDJ (1999) Prevalence of Prader-Willi and Angelman syndromes among mentally retarded boys in Brazil. Journal of Medical Genetics, 36: 498-499.

B138. Andrade LO, Machado CRS, Chiari E, Pena SDJ, Macedo AM (1999) Differential tissue distribution of diverse clones of Trypanosoma cruzi in infected mice. Molecular Biochemical Parasitology, 100: 163-172.

B139. Pena SDJ, Sturzeneker R (1999) Diagnosis of the fragile X syndrome in males using methylation-specific PCR of the FMR1 locus. Genetics and Molecular Biology, 22: 169-172.

B140. Carvalho-Silva DR, Santos FR, Hutz MH, Salzano FM, Pena SDJ (1999) Divergent human Y chromosome microsatellite evolution rates. Journal of Molecular Evolution, 49:204-214.

B141. Oliveira RP, Melo AIR, Macedo AM, Chiari E, Pena SDJ (1999) The population structure of Trypanosoma cruzi: expanded analysis of 54 strains using eight polymorphic CA-repeat microsatellites. Memórias do Instituto Oswaldo Cruz, 94, Suppl. 1, 65-70.

B142. Santos TM, Johnston DA, Azevedo A, Ridgers IL, Fernandez M, Marotta GB, Santos RL, Fonseca SJ, Ortega JM, Rabelo EML, Saber M, Abdel-Hamid H, Franco GR, Rollinson D, Pena SDJ (1999) Analysis of the gene expression profile in the Schistosoma mansoni cercariae using Expressed Sequence Tags approach. Molecular Biochemical Parasitology, 103:79-97.

B143. Pena SDJ (1999) Clonagem humana: aspectos científicos e éticos. Biotecnologia Ciência & Desenvolvimento, II (11 – Encarte Especial): 113-122.

B144. Pena SDJ (1999) Single-tube single-colour multiplex PCR amplification of ten polymorphic microsatellites (ALF10): a new powerful tool for DNA profiling. Pure and Applied Chemistry, 71: 1683-1690.

B145. Sturzeneker R, Bevilacqua RAU, Haddad LA, Simpson AJG, Pena SDJ (2000) Microsatellite instability in tumors as a model to study the process of microsatellite mutations. Human Molecular Genetics, 9: 347-352.

B146. Pereira RW, Sturzeneker R, Pena SDJ (2000) Screening fetal losses for monosomy X with a simple PCR-based procedure. Genetics and Molecular Biology, 23: 11-14.

B147. Vago AM, Andrade LO, Leite AA, Reis Dd’A, Macedo AM, Adad SJ, Tostes S, Moreira MCV, Brasileiro Filho G, Pena SDJ (2000) Genetic characterization of Trypanosoma cruzi directly from tissues of patients with chronic Chagas disease: differential distribution of genetic types into diverse organs. B American Journal of Pathology, 156: 1805-1809.

B148. Carvalho-Silva DR, Pena SDJ (2000) Molecular characterization and population study of an X chromosome homologue of the Y-linked microsatellite DYS391. Gene, 247: 233-240.

B149. Pena SDJ, Carvalho-Silva DR, Alves-Silva J, Prado VF, Santos FR (2000) Retrato molecular do Brasil. Ciência Hoje, 27 (159): 16-25.

B150. Pena SDJ, Santos FR (2000) Origen de los Amerindios. Investigacion y Ciência, 287: 48-54.

B151. Alves-Silva J, Santos MS, Guimarães PEM, Ferreira ACS, Bandelt H-J, Pena SDJ, Prado VF, Santos FR (2000) The ancestry of Brazilian mtDNA lineages. American Journal of Human Genetics, 67: 444-461.

B152. Pena, SDJ, Santos FR (2000) L’origine des Amérindiens. Pour la Science, 227: 82-85.

B153. Pereira RW, Pires ER, Duarte APM, de Moura RP, Monteiro E, Torloni H, Proietti AB, Simpson AJG, Pena SDJ (2000) Frequency of the CCR5 Delta 32 allele in Brazilians: a study in colorectal cancer and in HTLV-I infection. B Genetics and Molecular Biology, 23: 523-526.

B154. Rabelo EM, Coelho PM, Pena SDJ (2000) Identification of stage-specific genes in Schistosoma mansoni. Annals of the New York Academy of Sciences, 916: 654-7.

B155. Carvalho-Silva J, Santos FR, Rocha J, Pena SDJ (2001) The phylogeography of Brazilian Y chromosome lineages. American Journal of Human Genetics, 68: 281-286.

B156. Simpson AJG, Caballero OL, Pena, SDJ (2001) Microsatellite instability as a tool for the classification of gastric cancer. Trends in Molecular Medicine, 2: 76-80.

B157. Macedo AM, Pimenta JR, Aguiar RS, Chiari E, Zingales B, Pena SDJ, Oliveira RP (2001) Usefulness of microsatellite typing in population genetic studies of Trypanosoma cruzi. Memórias do Instituto Oswaldo Cruz, 96: 407-413.

B158. Tarazona-Santos E, Carvalho-Silva DR, Pettener D, Luiselli D, DeStefano GF, Labarga CM, Rickards O, Tyler-Smith C, Pena SDJ, Santos FR (2001) Genetic differentiation in South Amerindians is related to environmental and cultural diversity: evidence from the Y chromosome. American Journal of Human Genetics, 68: 1485-1496.

B159. Augusto-Pinto L, Bartholomeu DC, Teixeira SMR, Pena SDJ, Machado CR (2001) Molecular cloning and characterization of the mismatch repair gene class 2 from the Trypanosoma cruzi. Gene, 272: 323-333.

B160. Tarazona-Santos E, Carvalho-Silva DR, Pettener D, Luiselli D, DeStefano GF, Labarga CM, Rickards O, Tyler-Smith C, Pena SDJ, Santos FR (2001) Reply to Rothhammer and Moraga. American Journal of Human Genetics, 69: 904-906.

B161. Silva EL, Crema E, Ramirez LE, Macedo AM, Pena SDJ, Chiari E (2001) The relationship between Trypanosoma cruzi and human chagasic megaesophagus: blood and tissue parasitism. American Journal of Tropical Medicine and Hygiene, 65: 435-441.

B162. Bandelt H-J, Alves-Silva J, Guimarães PEM, Santos MS, Brehm A, Pereira L, Coppa A, Larruga JM, Rengo C, Scozzari R, Torroni A, Prata MJ, Amorim A, Prado VF, Pena SDJ (2001) Phylogeography of the human mitochondrial haplogroup L3e: a snapshot of African prehistory and Atlantic slave trade. Annals of Human Genetics, 65: 549-563.

B163. Macedo AM, Oliveira RP, Pena SDJ (2002) Chagas disease: role of parasite variation in pathogenesis. Expert Reviews in Molecular Medicine, 5 March 2002, http://www-ermm.cbcu.cam.ac.uk/02004118h.htm

B164. Freitas RN, Brasileiro-Filho G, Silva ME, Pena SDJ (2002) Bracken fern induced malignant tumors in rats: absence of mutations in p53, H-ras and K-ras and no microsatellite instability. Mutation Research, 499:189-196.

B165. Valadão AF, Fantappie MR, LoVerde PT, Pena SDJ, Rumjanek FD, Franco GR (2002) Y-box binding protein from Schistosoma mansoni: interaction with DNA and RNA. Molecular and Biochemical Parasitology, 125: 47-57.

B166. Souza PP, Santos DN, Pena SDJ, Franco GR (2002) Cloning and molecular characterization of the Schistosoma mansoni genes RbAp48 and histone H4. Memórias do Instituto Oswaldo Cruz, 97 (Suppl I): 87-94.

B167. Prosdocimi F, Faria-Campos AC, Peixoto FC, Pena SDJ, Ortega JM, Franco GR (2002) Clustering of Schistosoma mansoni mRNA sequences and analysis of the most transcribed genes: implications in metabolism and biology of different developmental stages. Memórias do Instituto Oswaldo Cruz, 97 (Suppl I): 61-69.

B168. Andrade LO, Machado CRS, Chiari E, Pena SDJ, Macedo, AM (2002) Trypanosoma cruzi: role of host genetic background in the differential tissue distribution of parasite clonal populations. Experimental Parasitology, 100: 269–275

B169. Santos TM, Machado CR, Franco GR, Pena SDJ (2002) Characterization and comparative functional analysis in yeast of a Schistosoma mansoni Rho1 GTPase gene. Molecular and Biochemical Parasitology, 125: 103-112.

B170. Carvalho CM, Fujisawa M, Shirakawa T, Gotoh A, Kamidono S, Freitas Paulo T, Santos SE, Rocha J, Pena SD, Santos FR (2003) Lack of association between Y chromosome haplogroups and male infertility in Japanese men. American Journal of Medical Genetics, 116:152-8.

B171. Leopoldino AM, Pena SDJ (2003) The mutational spectrum of human autosomal tetranucleotide microsatellites. Human Mutation, 21:71-79

B172. Oliveira MAA, Caballero OL, Vago AR, Harskeerl RA, Romanha AJ, Pena SDJ, Simpson AJG and Koury MC (2003) Low-stringency single specific primer PCR for identification of Leptospira. Journal of Medical Microbiology, 52: 127-135

B173. Parra FC, Amado RC, Lambertucci JR, Rocha J, Antunes CM, Pena SDJ (2003) Color and genomic ancestry in Brazilians. Proceedings of the National Academy of Sciences of the U.S.A, 100:177-182.

B174. Augusto-Pinto L, Teixeira SMR, Pena SDJ, Machado CR (2003) Single-nucleotide polymorphisms of the Trypanosoma cruzi MSH2 gene support the existence of three phylogenetic lineages presenting differences in mismatch repair efficiency. Genetics, 164: 117-126.

B175. Pereira HM, Cleasby A, Pena SDJ, Franco GR, Garratt RC (2003) Cloning,expression and preliminary crystallographic studies of the potential drug target purine nucleoside phosphorylase from Schistosoma mansoni. Biological Crystalography, 9: 1096-1099.

B176. Prieto L, Montesino M, Salas A, Alonso A, Albarran C, Alvarez S, Crespillo M, Di Lonardo AM, Doutremepuich C, Fernandez-Fernandez I, de la Vega AG, Gusmao L, Lopez CM, Lopez-Soto M, Lorente JA, Malaghini M, Martinez CA, Modesti NM, Palacio AM, Paredes M, Pena SD, Perez-Lezaun A, Pestano JJ, Puente J, Sala A, Vide M, Whittle MR, Yunis JJ, Gomez J. (2003) The 2000-2001 GEP-ISFG Collaborative Exercise on mtDNA: assessing the cause of unsuccessful mtDNA PCR amplification of hair shaft samples. Forensic Sciences International, 134:46-53.

B177. Franco GC, Lucio PS, Parra FC, Pena SDJ (2003) A probability model for the nondisjunction fraction in meiosis I. Statistics in Medicine, 22:2015-2024.

B178. Pena, SDJ, Sturzeneker, R (2003) Fetal diagnosis of monosomy X (Turner syndrome) with methylation-specific PCR. Prenatal Diagnosis, 23: 769-770.

B179. The Brazilian National Genome Project Consortium (2003) The complete genome sequence of Chromobacterium violaceum reveals remarkable and exploitable bacterial adaptability. Proceedings of the National Academy of Sciences of the USA, 100: 11660-11665.

B180. Pena, SDJ, Sturzeneker, R (2003) Molecular Barr Bodies: Methylation-specific PCR of the human X-linked gene FMR-1 for diagnosis of the Klinefelter syndrome. Journal of Andrology, 24: 809.

B181. Pena SDJ, Martins da Costa HBBL, Carvalho HF, Sturzeneker R (2003) Investigação genética dos abortamentos espontâneos pelo DNA. Revista Médica de Minas Gerais, 13: 164-173.

B182. Macedo AM, Machado CR, Oliveira RP, Pena SDJ (2004) Trypanosoma cruzi: genetic structure of populations and relevance of genetic variability to the pathogenesis of Chagas disease. Memórias do Instituto Oswaldo Cruz, 99: 1-12.

B183. Pena SDJ, Bortolini MC (2004) Pode a genética definir quem deve se beneficiar das cotas universitárias e demais ações afirmativas? Estudos Avançados, 18: 31-50.

B184. Bortolini MC, Da Silva WAJr, Zago MA, Elion J, Krishnamoorthy V, Gonçalves VF, Pena SDJ (2004) The phylogeography of mtDNA haplogroup L3g in Africa and the atlantic slave trade. American Journal of Human Genetics, 75: 522-524.

B185. Carvalho CMB, Rocha JL, Santos FR, Kleiman SE, Paz G, Yavetz H, Pena SDJ (2004) Y chromosome haplotypes in azoospermic Israeli men. Human Biology, 76: 469-478.

B186. Calzavara-Silva CE, Prosdocimi FGC, Abath F, Pena SDJ, Franco GR (2004) Nucleic acid binding properties of SmZF1, a zinc finger protein of Schistosoma mansoni. International Journal of Parasitology, 34:1211-1219.

B187. Freitas JM, Lages-Silva E, Crema E, Pena SDJ, Macedo AM (2005) Real-time PCR strategy for the identification of major lineages of Trypanosoma cruzi directly in chronically infected human tissues. International Journal of Parasitology, 35:411-417.

B188. Anacleto C, Rossi B, Lopes A, Soares FA, Rocha JCC, Caballero O, Camargo AA, Simpson AJG, Pena SDJ (2005) Development and application of a multiplex PCR procedure for the detection of DNA methylation in colorectal cancer. Oncology Reports, 13:325-328.

B189. Bavoux C, Leopoldino AM, Ogi T, Bieth A, Kumari A, Helleday T, Lehmann A, Pena SDJ, Machado CR, Hoffmann J.-S., Cazaux C (2005) Misregulation of the error-prone DNA polymerase kappa promotes pleiotropic genetic alterations and tumorigenesis. BCancer Research, 65:325-330.

B190. Carvalho CMB, Pena SDJ (2005) Optimization of a multiplex minisequencing protocol for population studies and medical genetics. Genetics and Molecular Research, 4(2) 115-125.

B191. Suarez-Kurtz G, Vianna-Jorge R, Perini JA, Pena SDJ (2005) Detection of CYP2C9*5 in a “White” Brazilian . Clinical Pharmacology and Therapeutics, 77:587-588.

B192. Anacleto C, Leopoldino AM, Rossi B, Lopes A, Soares FA, Rocha JCC, Caballero O, Camargo AA, Simpson AJG, Pena SDJ (2005) Colorectal cancer “methylator phenotype”: fact or artifact? Neoplasia, 7:331-335.

B193. Ruiz-Narváez EA, Santos FR, Carvalho-Silva D, Azofeifa J, Barrantes R, Pena SDJ (2005) Genetic variation of the Y-chromosome in Chibcha-speaking Amerindians of Costa Rica and Panama. Human Biology, 77: 71-91.

B194. Carvalho F, Monteiro Santos, EM, Pena SDJ, Vettore A, Lopes A, Ferreira F, Aguiar Junior S, Nakagawa WT, Rossi, BM (2005) Clinicopathological Significance of BAT26 Instability in 184 Patients with Colorectal Cancer. Applied Cancer Research, 25: 36-40.

B195. Pena SDJ (2005) Segurança pública: determinação de identidade genética pelo DNA. Parcerias Estratégicas, 20: 447-460.

B196. Pena SDJ (2005) Razões para banir o conceito de raça da medicina brasileira. História, Ciências, Saúde — Manguinhos, 12:321-46.

B197. Pena SDJ (2005) Era do genoma, anno V. Scientific American Brasil, 4(37): 36.

B198. The Brazilian National Genome Project Consortium (2005) Swine and poultry pathogens: the complete genome sequences of two strains of Mycoplasma hyopneumoniae and a strain of Mycoplasma synoviae. Journal of Bacteriology, 187:5568-5577.

B199. Pena SDJ (2005) Razões para banir o conceito de raça da medicina brasileira. História, Ciências, Saúde — Manguinhos, 12:321-46.

B200. Carvalho-Silva DR, Tarazona-Santos E, Rocha J, Pena SDJ, Santos FR (2006) Y chromosome diversity in Brazilians: switching perspectives from slow to fast evolving markers. B Genetica, 126: 251-260.

B202. Carvalho CMB., Camargos W, Pena SDJ (2006) A multiplex protocol suitable for screening for MECP2 mutations in girls with mental retardation. Clinical Chemistry, 52: 539-540.

B201. Pereira RW, Pena SDJ (2006) Phylogeography of haplotypes of five microsatellites located in a low-recombination region of the X chromosome: studies worldwide and in Brazilian populations. Genetica, 126: 243-250.

B203. Freitas JM, Augusto-Pinto A, Pimenta JR, Bastos-Rodrigues L, Gonçalves VF, Teixeira SMR, Chiari E, Fernandes O, Macedo AM, Machado CR, Pena SDJ (2006) Ancestral genomes, sex and the population structure of Trypanosoma cruzi. PLoS Pathogens, 2(3): e24.

B204. Pereira RW, Santos SS, Pena SDJ (2006) A novel polymorphic Alu insertion embedded in a LINE 1 retrotransposon in the human X chromosome (DXS225): identification and worldwide population study. Genetics and Molecular Research, 5: 63-71.

B205. Bastos-Rodrigues L, Pimenta JR, Pena SDJ (2006) The genetic structure of human populations studied through short insertion-deletion polymorphisms. Annals of Human Genetics, 70: 658-665.

B206. Clarizia, AD, Bastos-Rodrigues L, Pena HB, Anacleto C, Rossi B, Lopes A, Soares FA, Rocha JCC, Caballero O, Camargo AA, Simpson AJG, Pena SDJ (2006) Relationship of the methylenetetrahydrofolate reductase C677T polymorphism with microsatellite instability and promoter hypermethylation in sporadic colorectal cancer. Genetics and Molecular Research, 5: 315-322.

B207. Pena SDJ, Birchal TS (2006) A inexistência biológica versus a existência social de raças humanas: pode a ciência instruir o etos social? Revista USP, 68: 10-21.

B208. Lages-Silva E, Ramirez LE, Pedrosa AL, Crema E, Galvao LMD, Pena SDJ, Macedo AM, Chiari E (2006) Variability of kinetoplast DNA gene signatures of Trypanosoma cruzi II strains from patients with different clinical forms of Chagas’ disease in Brazil. Journal of Clinical Microbiology, 44: 2167-2171.

B209. Carvalho CMB, Zuccherato LW, Rodrigues LB, Santos FR, Pena SDJ. (2006) No association found between gr/gr deletions and infertility in Brazilian males. Human Molecular Reproduction, 12: 269-273.

B210. Pena SDJ (2006) Roteiro clínico para identificação e aconselhamento de portadoras de mutações nos genes BRCA1 e BRCA2. Revista Brasileira de Mastologia, 16: 38-43.

B211. Regis-da-Silva CG, Freitas JM, Passos-Silva DG, Furtado C, Augusto-Pinto L, Pereira, MT DaRocha WD, Franco GR, Macedo AM, Cazaux C, Hoffmann JS, Pena SDJ, Teixeira SMR, Machado CR (2006) Characterization of the Trypanosoma cruzi Rad51 gene and its role in recombination events associated with the parasite resistance to ionizing radiation. Molecular Biochemical Parasitology, 149:191-200.

B212. Carvalho CMB, Zuccherato LW, Fujisawa M, Shirakawa T, Gotoh T, Kamidono S, Paulo TF, Santos SEB, Pena SDJ, Santos FR (2006) Study of AZFc partial deletion gr/gr in fertile and infertile Japanese males. Journal of Human Genetics, 51:794-9.

B213. Bicalho HMS, Pimenta CG, Mendes, Pena HB, Queiroz EM, Pena SDJ (2006) Determination of ancestral proportions in synthetic bovine breeds using commonly employed markers. Genetics and Molecular Research, 5: 432-437.

B214. Pena, SDJ (2006) Thomas Bayes, o cara! Ciência Hoje, 38 (228): 22-29.

B215. Pimenta JR, Zuccherato LW, Debes AA, Maselli L, Soares RP, Moura-Neto RS, Rocha J, Bydlowski SP, Pena SDJ (2006) Color and genomic ancestry in Brazilians: a study with forensic microsatellites. Human Heredity, 62: 190-195.

B216. de Aguiar PHN, Santos DN, Lobo FP, Santos TM, Macedo AM, Pena SDJ, Machado CR, Franco GR (2006) Functional complementation of a yeast knockout strain by Schistosoma mansoni Rho1 GTPase in the presence of caffeine, an agent that affects mutants defective in the protein kinase C signal transduction pathway. Memorias Instituto Oswaldo Cruz 101 (Suppl): 323-326.

B217. Lemée F, Bavoux C, Pillaire MJ, Bieth A, Machado CR, Pena SDJ, Guimbaud R, Selves J, Hoffmann JS, Cazaux C (2006) Characterization of promoter regulatory elements involved in down-expression of the DNA polymerase kappa in colorectal cancer. Oncogene, 26, 3387-94 PMID: 17099721.

B218. Suarez-Kurtz G, Pena SDJ (2006) Pharmacogenomics in the Americas: impact of genetic admixture. Current Drug Targets 7: 1649-1658.

B219. Pena SDJ (2007) Para remover a palavra raça dos prontuários médicos no Brasil. BCiência e Cultura, 59: 4-5.

B220. Pena SDJ (2007) DNA and the Criminal Justice System: Book Review. American Journal of Medical Genetics Part A 143A:630-631.

B221. Lemee F, Bavoux C; Machado CR, Pena SDJ, Hoffmann JS, Cazaux, C. (2007) Characterization of promoter regulatory elements involved in down-expression of the DNA polymerase kappa in colorectal cancer. Oncogene (Basingstoke), v. 26, p. 3387-3392.

B222. Furtado C, Regis-da-Silva CG, Passos-Silva DG, Franco GR, Macedo AM, Pena SDJ, Machado CR (2007) Schistosoma mansoni: the IMP4 gene is involved in DNA repair/tolerance after treatment with alkylating agent methyl methane sulfonate. Experimental Parasitology, v. 116, p. 25-34.

B223. Hünemeier T, Carvalho C, Marrero AC, Salzano FM, Pena SDJ, Bortolini MC (2007) Niger-Congo speaking populations and the formation of the Brazilian gene pool: mtDNA and Y-chromosome data. American Journal of Physical Anthropology, v. 133, p. 854-867.

B224. Suarez-Kurtz G, Vargens DD, Struchiner CJ, Bastos-Rodrigues L, Pena SDJ (2007) Self-reported skin color, genomic ancestry and the distribution of GST polymorphisms. Pharmacogenetics and Genomics, v. 17, p. 765.

B225. Marrero AR, Bravi CM, Stuart S, Long JC, Leite FPN, Kommers TC, Carvalho C, Pena SDJ, Ruiz-Linares A, Salzano FM, Bortolini MC (2007) The Gaucho genetic history – gene dynamics in southern Brazil. Human Heredity, International Journal of Human and Medical Genetics , v. 64, p. 160-171.

B226. Lopes DO, Pena SDJ, Machado CR (2007) Analysis of DNA polymerase activity in vitro using non-radioactive primer extension assay in an automated DNA sequencer. Genetics and Molecular Research, v. 6, p. 150-155.

B227. Gonçalves VF, Prosdocimi F, Ortega JM, Pena SDJ (2007) Sex-biased gene flow in African Americans but not in American Caucasians. Genetics and Molecular Research, v. 6, p. 156-161.

B228. Santos-Lopes SS, Pereira RW, Wilson IJ, Pena SDJ (2007) A worldwide phylogeography for the human X chromosome. Plos One, v. 27, p. e557, 2007.

B229. Santos DN, Pena SDJ, Franco GR (2007) Schistosoma mansoni: Heterologous complementation of a yeast null mutant by SmRbx, a protein similar to a RING box protein involved in ubiquitination. Experimental Parasitology, v. 116, p. 440-449.

B230. Suarez-Kurtz G, Perini JA, Bastos-Rodrigues L, Pena SDJ, Struchiner CJ (2007) Impact of population admixture on the distribution of the CYP3A5*3 polymorphism. Pharmacogenomics (London), v. 8, p. 1299.

B231. Gonçalves VF, Carvalho, CMB, Bortolini MC, Bydlowski SP, Pena (2008) SDJ The phylogeography of African Brazilians. Human Heredity. International Journal of Human and Medical Genetics, v. 65, p. 23-32.

B232. Pires SF, Freitas J, Chiari E, Pena SDJ, Macedo AM, Teixeira SMR (2008) Cell culture and animal infection with distinct Trypanosoma cruzi strains expressing red and green fluorescent proteins. International Journal for Parasitology, v. 38, p. 289-297.

B233. Gomes RR, Campos S, Pena SDJP (2008) PEDEXPERT: a computer program for the application of Bayesian networks to human paternity testing. Genetics and Molecular Research, v. 7, p. In Press.

B234. Valadares HM, Pena SDJ, Macedo AM (2008) Genetic profiling of Trypanosoma cruzi directly in human and animal infected tissues using nested PCR of polymorphic microsatellites. International Journal for Parasitology, v. 38, p. 839-850.

B235. Machado-Silva A, Pena SDJ, Machado CR (2008) Mismatch repair in Trypanosoma brucei: Heterologous expression of MSH2 from Trypanosoma cruzi provides new insights into the response to oxidative damage. Gene (Amsterdam), v. 411, p. 19-26.

B236. Santos C, Pena SDJ, Sequeiros J (2008) Huntington disease-like 2: the first patient with apparent European ancestry. Clinical Genetics, v. 73, p. 1-6.

B237. Lopes DDO, Pena SDJ, Machado CR (2008) Biochemical studies with DNA polymerase beta and DNA polymerase beta-PAK of Trypanosoma cruzi suggest the involvement of these proteins in mitochondrial DNA maintenance. DNA Repair, v. 7, p. 1882-1892.

B238. Rajão MA, Pena SDJ, Machado CR (2008) DNA polymerase kappa from Trypanosoma cruzi localizes to the mitochondria, bypasses 8-oxoguanine lesions and performs DNA synthesis in a recombination intermediate. Molecular Microbiology, v. 70, p. Nov 6. Epub.

B239. Freitas JM, Andrade LO, Pires SF, Lima R, Chiari E, Santos RR, Soares M, Machado CR, Franco GR, Pena SDJ, Macedo AM (2009) The MHC Gene Region of Murine Hosts Influences the Differential Tissue Tropism of Infecting Trypanosoma cruzi Strains. Plos One, v. 4, p. e5113.

B240. Gomes RR, Campos S, Pena SDJ (2009) PedExpert: a computer program for the application of Bayesian networks to human paternity testing. Genetics and Molecular Research, v. 8, p. 273-283.

B241. Lopes DO, Falconi FC, Goes AM, Canitrot Y, Hoffmann JS, Cazaux C, Franco GR, Macedo AM, Pena SDJ, Machado CR (2009) Isolation and characterization of HC1: a novel human DNA repair gene. Genetics and Molecular Research, v. 8, p. 247-260.

B242. de Moura MB, Fonseca Schamber-Reis BLF, Passos Silva DG, Rajão MA, Macedo AM, Franco GR, Pena SDJ, Ribeiro SM, Machado CR (2009) Cloning and characterization of DNA polymerase η from Trypanosoma cruzi : Roles for translesion bypass of oxidative damage. Environmental and Molecular Mutagenesis, v. 50, p. 375-386.

B243. Rajão MA, Passos-Silva DG, DaRocha WD, Franco GR, Macedo AM, Pena SDJ, Teixeira SM, Machado CR (2009) DNA polymerase kappa from Trypanosoma cruzi localizes to the mitochondria, bypasses 8-oxoguanine lesions and performs DNA synthesis in a recombination intermediate. Molecular Microbiology, v. 71, p. 185-197.

B244. Santos RV, Fry PH, Monteiro S, Maio MC, Rodrigues JC, Bastos-Rodrigues L, Pena SDJ (2009) Color, race, and genomic ancestry in Brazil: dialogues between anthropology and genetics. Current Anthropology, v. 50, p. 787-819.

B245. Lobo FP, Mota BEF; Pena SDJ, Azevedo V, Macedo AM, Tauch A, Machado CR, Franco GR (2009) Virus-Host Coevolution: Common Patterns of Nucleotide Motif Usage in Flaviviridae and Their Hosts. Plos One, v. 4, p. e6282.

B246. Drummond MG ; Calzavara-Silva CE, D’Astolfo DS, Cardoso FC, Rajão MA, Mourão MM, Gava E, Oliveira SC, Macedo AM, Machado CR, Pena SDJ, Kitten GT, Franco GR (2009) Molecular characterization of the Schistosoma mansoni zinc finger protein SmZF1 as a transcription factor. Plos Neglected Tropical Diseases, v. 3, p. e547.

B247. Pena SDJ, Machado CR, Macedo AM (2009) Trypanosoma cruzi: ancestral genomes and population structure. Memórias do Instituto Oswaldo Cruz (Impresso), v. 104, p. 108-114.

B248. Pena SDJ, Bastos-Rodrigues L, Pimenta JR, Bydlowski SP (2009) DNA tests probe the genomic ancestry of Brazilians. Brazilian Journal of Medical and Biological Research (Impresso), v. 42, p. 870-876.

B249. Pimenta, JR, Pena SDJ (2010) Efficient human paternity testing with a panel of 40 short insertion-deletion polymorphisms. Genetics and Molecular Research, v. 9, p. 601-607.

B250. Kehdy FSG, Pena, SDJ (2010) Worldwide diversity of the Y-chromosome tetra-local microsatellite DYS464. Genetics and Molecular Research, v. 9, p. 1525-1534.

B251. Gonçalves VF, Parra FC, Gonçalves-Dornelas H, Rodrigues-Carvalho C, Silva HP, Pena SDJ (2010) Recovering mitochondrial DNA lineages of extinct Amerindian nations in extant homopatric Brazilian populations. Investigative Genetics, v. 1, p. 13.

B252. Rodrigues CM, Pena SDJ, Macedo AM (2010) Coinfection with different Trypanosoma cruzi strains interferes with the host immune response to infection. PLoS Neglected Tropical Diseases, v. 4, p. e846.

B253. Andrade LO, Pena SDJ, Macedo AM (2010) Differential tissue tropism of Trypanosoma cruzi strains: an in vitro study. Memórias do Instituto Oswaldo Cruz (Impresso), v. 105, p. 834-837.

B254. Suarez-Kurtz G, Pena SDJ, Struchiner CJ (2010) VKORC1 polymorphisms in Brazilians: comparison with the Portuguese and Portuguese-speaking Africans and pharmacogenetic implications. Pharmacogenomics (London), v. 11, p. 1257-1267.

B255. Pena SDJ (2010) Medicina genômica personalizada aqui e agora. Revista Médica de Minas Gerais (Belo Horizonte), v. 20, p. 329-334.

B256. Gonçalves VF, Parra FC, Gonçalves-Dornelas H, Rodrigues-Carvalho C, Silva HP, Pena SDJ (2010) Recovering mitochondrial DNA lineages of extinct Amerindian nations in extant homopatric Brazilian populations. Investigative Genetics, v. 1, p. 13.

B257. Suarez-Kurtz G, Genro JP, de Moraes MO, Ojopi EB, Pena SDJ, Perini JA, Ribeiro-dos-Santos A, Romano-Silva MA, Santana I, Struchiner CJ (2010) Global pharmacogenomics: Impact of population diversity on the distribution of polymorphisms in the CYP2C cluster among Brazilians. The Pharmacogenomics Journal (2012) 12, 267–276; doi:10.1038/tpj.2010.89; published online 21 December 2010.

B258. Pena SDJ, Di Pietro G, Fuchshuber-Moraes M, Genro JP, Hutz MH, Kehdy FSG, Kohlrausch F, Magno LAV, Montenegro RC, Moraes MO, Moraes MEA, Moraes MR, Ojopi EB, Perini JA, Racciopi C, Ribeiro-dos-Santos AKC, Rios-Santos F, Romano-Silva MA, Sortica VA, Suarez-Kurtz G (2010) The genomic ancestry of individuals from different geographical regions of Brazil is more uniform than expected. Plos One, v. 6, p. e17063.

B259. Pena SDJ (2011) The fallacy of racial pharmacogenomics. Brazilian Journal of Medical and Biological Research -on line, v. 44, p. 268-275.

B260. Carr IM, Markham Sir AF, Pena SDJ (2011) Estimating the degree of identity by descent in consanguineous couples. Human Mutation, v. 32, p. 1350-1358.

B261. da Silva MC, Pena SDJ, Tarazona-Santos E. (2011) Extensive admixture in Brazilian sickle cell patients: implications for the mapping of genetic modifiers. Blood (Philadelphia, PA), v. 118, p. 4493-4495.

B262. Sortica VA, Ojopi EB, Genro JP, Callegari-Jacques S, Ribeiro-dos-Santos, Â, de Moraes MO, Romano-Silva MA, Pena SDJ, Suarez-Kurtz G, Hutz (2012) Influence of genomic ancestry on the distribution of SLCO1B1, SLCO1B3 and ABCB1 gene polymorphisms among Brazilians. Basic & Clinical Pharmacology & Toxicology (Print), v. 110, p. 460-468, 2012. doi: 10.1111/j.1742-7843.2011.00838.x. Epub 2011 Dec 29.

B263. Schamber-Reis BLF, Nardelli S, Régis-Silva G, Campos CC, Cerqueira PG, Lima SA, Franco GR, Macedo AM, Pena SDJ, Cazaux C, Hoffmann JS, Motta MCM, Schenkman S, Santuza MRT, Machado CR. (2012) DNA polymerase beta from Trypanosoma cruzi is involved in kinetoplast DNA replication and repair of oxidative lesions. Molecular and Biochemical Parasitology (Print), v. 183, p. 122-131.

B264. Suarez-Kurtz G, Pena SDJ, Hutz MH (2012) Application of the F(ST) statistics to explore pharmacogenomic diversity in the Brazilian population. Pharmacogenomics (London), v. 13, p. 771-777.

B265. Pena HB, Pena SDJ (2012) Automated genotyping of a highly informative panel of 40 short insertion-deletion polymorphisms resolved in polyacrylamide gels for forensic identification and kinship analysis. Transfusion Medicine and Hemotherapy, v. 39, p. 211-216.

B266. Suarez-Kurtz G, Pena SDJ, Struchiners CJ, Hutz MH (2012) Pharmacogenomic diversity among Brazilians: influence of ancestry, self-reported color, and geographical origin. Frontiers in Pharmacology, v. 3, p. 191.

B267. Carr IM, Diggle CP, Khan K, Inglehearn C, Mckibbin M, Bonthron DT, Markham AF, Anwar R, Dobbie A, Pena SDJ, Ali M (2012) Rapid visualisation of microarray copy number data for the detection of structural variations linked to a disease phenotype. Plos One, v. 7, p. e43466.

B268. Valadares HMS, Pimenta JR, Segatto M, Veloso VM, Gomes ML, Chiari E, Gollob KJ, Bahia MT, De Lana M, Franco GR, Machado CR, Pena SDJ, Macedo AM (2012) Unequivocal identification of subpopulations in putative multiclonal Trypanosoma cruzi strains by FACs single cell sorting and genotyping. PLoS Neglected Tropical Diseases (Online), v. 6, p. e1722-e1722.

B269. Furtado C, Kunrath-Lima M, Rajão MA, Mendes IC, de Moura MB, Campos PC, Macedo AM, Franco GR, Pena SDJ, Teixeira SMR, Van Houten B, Machado CR (2012) Functional characterization of 8-Oxoguanine DNA glycosylase of Trypanosoma cruzi. Plos One, v. 7, p. e42484.

B270. Carr IM, Morgan J, Watson C, Melnik S, Diggel CP, Logan CV, Harrison SM, Taylor GR, Pena SDJ, Markham AF, Alkuraya FS, Black GCM, Ali M, Bonthron DT (2013) Simple and efficient identification of rare recessive pathologically important sequence variants from next generation exome sequence data. Human Mutation, 34(7):945-52. doi: 10.1002/humu.22322. Epub 2013 Apr 29.

B271. Gonçalves VF, Stenderup J, Rodrigues-Carvalho C, Silva HP, Gonçalves-Dornelas H, Liryo A, Kivisild T, Malaspinas A-S, Campos PF, Rasmussen M, Willerslev E, Pena SDJ (2013) Identification of Polynesian mtDNA haplogroups in remains of Botocudo Amerindians from Brazil. Proceedings of the National Academy of Sciences of the United States of America, v. 110, p. 6465-6469.

B272. Stofanko M, Gonçalves-Dornelas H, Cunha PS, Pena HB, Vianna-Morgante AM, Pena SDJ (2013) Simple, rapid and inexpensive quantitative fluorescent PCR method for detection of microdeletion and microduplication syndromes. Plos One, v. 8, p. e61328.

B273. Segatto M, Rodrigues CM, Machado CR, Franco GR, Pena SDJ, Macedo AM (2013) LSSP-PCR of Trypanosoma cruzi: how the single primer sequence affects the kDNA signature. BMC Research Notes, v. 6, p. 174.

B274. Aguiar PHN, Furtado C, Repolês BM, Ribeiro GA, Mendes IC, Peloso EF, Gadelha FR, Macedo AM, Franco GR, Pena SDJ, Teixeira SMR, Vieira LQ, Guarneri AA, Andrade LO, Machado CR (2013) Oxidative stress and DNA lesions: the role of 8-Oxoguanine lesions in Trypanosoma cruzi cell viability. PLoS Neglected Tropical Diseases (Online), v. 7, p. e2279.

B275. Sandoval JR, Slazar-Granara A, Acosta O, Castillo-Herrera W, Fujita R, Pena SDJ, Santos FR (2013) Tracing the genomic ancestry of Peruvians reveals a major legacy of pre-Columbian ancestors. Journal of Human Genetics (Print), v. 58, p. 627-634.

B276. Fan Y-S, Ouyang X, Peng J, Sacharow S, Tekin M, Barbouth D, Bodamer O, Yusupov R, Navarrete C, Heller AH, Pena SDJ (2013) Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray. Molecular Cytogenetics, v. 6, p. 38.

B277. Stofanko M, Han JC, Elsea SH, Pena HB, Gonçalves-Dornela H, Pena SDJ (2013) Rapid and inexpensive screening of genomic copy number variations using a novel Quantitative Fluorescent PCR method. Disease Markers (Print), v. 35, p. 589-594, 2013.

B278. Baptista RP, Dávila DA, Segatto M, Valle IF, Franco GR, Valadares HMS, Gontijo ED, Galvão LMC, Pena SDJ, Chiari E, Machado CR, Macedo AM (2013) Evidence of substantial recombination among Trypanosoma cruzi II strains from Minas Gerais. Infection, Genetics and Evolution (Print), v. 21, p. 170.

B279. Rajão MA, Furtado C, Alves CL, Passos-Silva DG, de Moura MB, Schamber-Reis BL, Kunrath-Lima M, Zuma AA, Vieira-Da-Rocha JP, Borio Ferreira Garcia J, Mendes IC, Pena SDJ, Macedo AM, Franco GR, de Souza-Pinto NC, de Medeiros MHG, Cruz AK, Machado Motta MC, Teixeira SMR, Machado, CR (2014) Unveiling Benznidazole’s mechanism of action through overexpression of DNA repair proteins in Trypanosoma cruzi. Environmental and Molecular Mutagenesis, v. 55, p. 309-21. doi: 10.1002/em.21839. Epub 2013 Dec 18.

B280. Durso DF, Bydlowski SP, Hutz MH, Suarez-Kurtz G, Magalhães TR, Pena SDJ. (2014) Association of genetic variants with self-assessed color categories in Brazilians. PLoS ONE 9(1): e83926. doi:10.1371/journal.pone.0083926

B281. Linhares ND, Freire, MCM, Cardenas RGCCL, Bahia M, Puzenat E, Aubin F, Pena SDJ (2014) Short Communication Modulation of expressivity in PDGFRB-related infantile myofibromatosis: a role for PTPRG?. Genetics and Molecular Research, v. 13, p. 6287-6292.

B282. Suarez-Kurtz G, Vargens DD, Santoro AB, Hutz MH, de Moraes ME, Pena SDJ, Ribeiro-dos Santos, A, Romano-Silva MA, Struchiner CJ (2014) Global Pharmacogenomics: distribution of CYP3A5 polymorphisms and phenotypes in the Brazilian population. Plos One, v. 9, p. e83472.

B283. Cunha PS, Pena HB, D’Angelo CS, Koiffmann CP, Rosenfeld JA, Shaffer LG, Stofanko M, Gonçalves-Dornelas H, Pena SDJ (2014) Accurate, fast and cost-effective diagnostic test for monosomy 1p36 using Real-Time Quantitative PCR. Disease Markers (Print), v. 2014, p. 1-8.

B284. Linhares ND, Freire MCM, Cardenas RGCCL, Pena HB, Bahia M, Pena SDJ (2014) Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis. European Journal of Medical Genetics, v. 57, p. S1769-S1772.

B285. Liboredo R, Pena SDJ (2014) Pharmacogenomics: accessing important alleles by imputation from commercial genome-wide SNP arrays. Genetics and Molecular Research, v. 13, p. 5713-5721.

B286. Friedrich DC, Genro JP, Sortica VA, Suarez-Kurtz G, de Moraes ME, Pena SDJ, dos Santos AKR, Romano-Silva MA, Hutz MH (2014) Distribution of CYP2D6 alleles and phenotypes in the Brazilian population. Plos One, v. 9, p. e110691.

B287. Malaspinas A-S, Lao O, Schroeder H, Rasmussen M, Raghavan M, Moltke I, Campos P, Sagredo FS, Rasmussen S, Gonçalves VF, Albrechtsen A, Allentoft ME, Johnson PLF, LI M, Reis S, Bernardo DV, DeGiorgio M, Duggan AT, Bastos M, Wang Y, Stenderup J, Moreno-Mayar JV, Brunak S, Sicheritz-Ponten T, Hodges E, Hannon GJ, Ludovic O, Price TD, Jensen JD, Nielsen R, Heinemeier J, Olsen J, Rodrigues-Carvalho C, Lahr MM, Neves WA, Kayser M, Higham T, Stoneking M, Pena SDJ, Willerslev E (2014) Two ancient human genomes reveal Polynesian ancestry among the indigenous Botocudos of Brazil. Current Biology, v. 24, p. R1035-R1037.

B288. Groenner-Penna M, Croce EFD, Pimenta CG, Bicalho HMS, Pena SDJ (2014) MULTINDELS-BOV: Zebu traceback method based on DNA insertion-deletion polymorphisms. Genetics and Molecular Research, v. 13, p. 9171-9186.

B289. Allen NM, Conroy J, Shahwan A, Lynch B, Correa RG, Pena SDJ, McCreary D, Tiago R. Magalhaes, Sean Ennis, Sally A. Lynch, and Mary D. King. (2015) Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. Epilepsia, Jan;57(1):e12-7. doi: 10.1111/epi.13250. Epub 2015 Dec 9.

B290. Cardenas RGCCL, Linhares ND, Pena SDJ (2015) Mendel MD: A user-friendly online program for clinical exome anaysis. BMC Bioinformatics, 16(Suppl 8):A2, http://www.biomedcentral.com/1471-2105/16/S8/A2

B291. Watson CM, Crinnion LA, Gurgel-Gianetti J, Harrison SM, Daly C, Antanavicuite, A, Lascelles, C, Markham, AF. , Pena SDJ, Bonthron DT, Carr, IM (2015) Rapid detection of rare deleterious variants by next generation sequencing with optional microarray snp genotype data. Human Mutation, Sep;36(9):823-30. doi: 10.1002/humu.22818. Epub 2015 Jul 22.

B292. Pena SDJ, Coimbra RLM (2015) Ataxia and myoclonic epilepsy due to a heterozygous new mutation in : proposal for a new channelopathy. Clinical Genetics, 87, e1-e3.

B293. Linhares ND, Freire MCM, Cardenas, RGCC, Pena HB, Lachlan K, Dallapiccola B, Bacino C, Delobel B, James P, Thuresson AC, Annerén G, Pena SDJ (2016) 1p13.2 deletion displays clinical features overlapping noonan syndrome, likely related to NRAS gene haploinsufficiency. Genetics and Molecular Biology, 39, p. 349-57.

B294. Giugliani R, Vairo FP, Riegel M, De Souza CFM, Schwartz IVD, Pena SDJ (2016) Rare disease landscape in brazil: report of a successful experience in inborn errors of metabolism. Orphanet Journal of Rare DiseaseS, 11, p. 76.

B295. Jota MS, Lacerda DR, Sandoval JR, Vieira PPR, Ohasi D, Santos-Júnior J, Acosta O, Cuellar C, Revollo S, Paz-Y-Miño C, Fujita R, Vallejo GA, Schurr TG, Tarazona-Santos EM, Pena SDJ, Ayub Q, Tyler-Smith C, Santos FR (2016) New native south american Y chromosome lineages. Journal of Human Genetics 61, p. 593–603.

B296. Munford V, Castro LP, Souto R, Lerner LK, Vilar J, Brandstetter QC , Asif H, Schuch AP, de Souza TA, Ienne S, Alves FIA , Moura LMS , Galante PAV , Camargo AA , Liboredo R , Pena SDJ, Sarasin A , Chaibub SC , Menck CFM (2017) A genetic cluster of Xeroderma pigmentosum variant patients with two different founder mutations. British Journal of Dermatology 176, p. 1270-1278.

B297. Cardenas RGCCL, Linhares ND, Ferreira RL, Pena SDJ, Mendel MD (2017) A user-friendly open-source web tool for analyzing WES and WGS in the diagnosis of patients with Mendelian disorders. Plos Computational Biology (online), https://doi.org/10.1371/journal.pcbi.1005520

B298. Masnada S, Hedrich UBS, Gardella E, Schubert J, Kaiwar C, Klee EW, Lanpher BC, Gavrilova RH0, Synofzik M,, Bast T, Gorman K,, King MD, Allen NM, Conroy J, Ben Zeev B, Tzadok M, Korff C, Dubois F, Ramsey K0, Narayanan V0, Serratosa JM, Giraldez BG, Helbig I, Marsh E, O’Brien M, Bergqvist CA, Binelli A, Porter B, Zaeyen E, Horovitz DD0, Wolff M, Marjanovic D, Caglayan HS, Arslan M, Pena SDJ, Sisodiya SM, Balestrini S, Syrbe S, Veggiotti P, Lemke JR, Møller RS, Lerche H, Rubboli G (2017) Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies. Brain, 140, p. 2337-2354.

B299. Von Spiczak S, Helbig KL, Shinde DN, Huether R, Pendziwiat M, Lourenço C, Nunes ME, Sarco DP, Kaplan RA, Dlugos DJ, Kirsch H, Slavotinek A, Cilio MR, Cervenka MC, Cohen JS, McClellan R, Fatemi A, Yuen A, Sagawa Y, Littlejohn R, McLean SD, Hernandez-Hernandez L, Maher B, Møller RS, Palmer E, Lawson JA, Campbell CA, Joshi CN, Kolbe DL, Hollingsworth G, Neubauer BA, Muhle H, Stephani U, Scheffer IE, Pena SDJ, Sisodiya SM, Helbig I2; Epi4K Consortium; EuroEPINOMICS-RES NLES Working Group (2017) DNM1 encephalopathy: A new disease of vesicle fission. Neurology, 89, p. 385-394.

B300. Freire ACG, Alves CL, Goes GR, Resende BC, Moretti NS, Nunes VS, Aguiar PHN, Tahara EB, Franco GR, Macedo AM, Pena SDJ, Gadelha FR, Guarneri AA, Schenkman S, Vieira LQ, Machado CR (2017) Catalase expression impairs oxidative stress-mediated signalling in Trypanosoma cruzi. Parasitology, 144, p. 1498-1510.

B301. Kunrath-Lima M, Repolês BM, Alves CL, Furtado C, Rajão MA, Macedo AM, Franco GR, Pena, SDJ et al (2017) Characterization of Trypanosoma cruzi muty DNA glycosylase ortholog and its role in oxidative stress response. Infection Genetics and Evolution, 55, p. 332-342.

B302. Soardi FC, Machado-Silva A, Linhares ND, Zheng G, Qu Q, Pena HB, Martins TMM, Vieira HGS, Pereira NB, Melo-Minardi RC, Gomes CC, Gomez RS, Gomes DA, Pires DEV8, Ascher DB, Yu H, Pena SDJ (2017) Familial STAG2 germline mutation defines a new human cohesinopathy. NPJ Genomic Medicine, 2, p.7.

B303. Linhares ND, Freire MCM, Cardenas RGCCL, Pena HB, Bahia M, Pena SDJ (2017) Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis (Linhares et al., 2014)” turns out to be EBV+ leiomyomatosis caused by CARMIL2 mutations (2017) European Journal of Medical Genetics, 60, p. 1.

B304. Da Costa PA, Segatto M, Durso DF, De Carvalho Moreira WJ, Junqueira LL, De Castilho FM, De Andrade SA, Gelape CL, Chiari E, Teixeira-Carvalho A, Pena SDJ, Machado CR, Franco GR, Filho GB, Vieira Moreira MDC, Mara Macedo A (2017) Early PCR detection of Chagas disease reactivation in heart-transplanted patients. The Journal of Heart and Lung Transplantation, 36, p. 1.

B305. Schober T, Magg T, Laschinger M, Rohlfs M, Linhares ND, Puchalka J, Weisser T, Fehlner K, Mautner J, Walz C, Hussein K, Jaeger G, Kammer B, Schmid I, Bahia M0, Pena SD, Behrends U, Belohradsky BH, Klein C, Hauck F (2017) A human immunodeficiency syndrome caused by mutations in carmil2. Nature communications, 8, p. 14209.

B306. Cerqueira PG, Passos-Silva DG, Vieira-da-Rocha JP, Mendes IC, de Oliveira KA, Oliveira CF, Vilela LF, Nagem RA, Cardoso J, Nardelli SC, Krieger MA, Franco GR, Macedo AM, Pena SD, Schenkman S, Gomes DA, Guerra-Sá R, Machado CR (2017) Effect of ionizing radiation exposure on trypanosoma cruzi ubiquitin-proteasome system. Molecular and Biochemical Parasitology 212, p. 55-67.

B307. Linhares, ND, Arantes RR, Araujo SA, Pena SDJ (2018) Nephrotic syndrome and adrenal insufficiency caused by a variant in SGPL1. Clinical Kidney Journal, v. 11, 462-467. doi: 10.1093/ckj/sfx130. Epub 2017.

B308. Silva DGP, Santos SS, Nardelli SC, Mendes IC, Freire ACG, Repolês BM, Resende BC, Costa-Silva HM, da Silva VS, de Oliveira KA, Oliveira CFB, Vilela LFF, Nagem RAP, Franco GR, Macedo AM, Pena SDJ, Tahara EB, Sales Junior PA, Moreira DS, Teixeira SMR, McCulloch R, Virgilio S, Tosi LRO, Schenkman S, Andrade LO, Murta SMF, Machado CR (2018) The in vivo and in vitro roles of Trypanosoma cruzi Rad51 in the repair of DNA double strand breaks and oxidative lesions. PLoS Neglected Tropical Diseases, v. 12, e0006875.

B309. Alves CL, Repolês BM, da Silva MS, Mendes IC, Marin PA, Aguiar PHN, Santos SS, Franco GR, Macedo AM, Pena SDJ, Andrade LO, Guarnieri AA, Tahara EB, Elias MC, Machado, CR (2018) The recombinase Rad51 plays a key role in events of genetic exchange in Trypanosoma cruzi. Scientific Reports, v. 8, p. 1-10.

B310. De Castro TBR, Canesso MCC, Boroni M, Chame DF, Souza DL, Toledo NE, Tahara EB, Pena SDJ, Machado CR, Chiari E, Macedo A, Franco GR (2020) Differential modulation of mouse heart gene expression by infection with two Trypanosoma cruzi strains: a transcriptome analysis. Frontiers in Genetics, v. 11, p. 1.

B311. Resende BC, Oliveira ACS, Guañabens ACP, Repolês BM, Santana V, Hiraiwa PM, Pena SDJ, Franco, GR, Macedo AM, Tahara EB, Fragoso SP, Andrade LO, Machado CR (2020) The influence of recombinational processes to induce dormancy in Trypanosoma cruzi. Frontiers in Cellular and Infection Microbiology, v. 10, p. 1.

B312. Li D, Strong A, Shen KM, Cassiman D, Van Dyck M, Linhares ND, Valadares ER, Wang T, Pena SDJ, Jaeken J, Vergano S, Zackai E, Hing A, Chow P, Ganguly A, Scholz T, Bierhals T, Philipp D, Hakonarson H, Bhoj E (2020) De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females. Genetics in Medicine, v. 30, p. 1.

B313. Pena SDJ, Santos FR, Tarazona Santos, E (2020) Genetic admixture in Brazil. American Journal of Medical Genetics Part C- Seminars in Medical Genetics, v. 184, p. 928-938.

B314. Watson CM, Crinnion LA, Lindsay H, Mitchell R, Camm N, Robinson R, Joyce C, Tanteles GA, O’Halloran DJ, Pena SDJ, Carr IM, Bonthron DT (2021) Assessing the utility of long-read nanopore sequencing for rapid and efficient characterization of mobile element insertions. Laboratory Investigation, v. 101, p. 442-449.

B315. Linhares ND, Wilk P, Wator E, Tostes MA, Weiss MS, Pena SDJ (2021) Structural analysis of new compound heterozygous variants in PEPD gene identified in a patient with Prolidase Deficiency diagnosed by exome sequencing. Genetics and Molecular Biology (Online Version), v. 44, e20200393.

B316. Santos CMA, Heller AH, Pena HB, Pena SDJ (2021) A Protocol for Preconceptional Screening of Consanguineous Couples Using Whole Exome Sequencing. Frontiers in Genetics. 12:685123. doi: 10.3389/fgene.2021.685123.

CAPÍTULOS

Capítulos de Livros

C1. Hughes RC, Pena SDJ, Vischer P (1979) Cell Surface Glycoproteins in Fibroblast Adhesion. Em: Cell Adhesion an Motility (A.Curtis, J.D.Pitts, eds). Cambridge, Cambridge University Press, pp. 329-356.

C2. Hughes RC, Pena SDJ (1981) The Role of Carbohydrates in Cellular Recognition and Adhesion. Em: Carbohydrate Metabolism and its Disorders, Vol.III (P.J.Randle, D.G. Stainer, W.J.Whelan, eds.). New York, Academic Press, pp. 363-423.

C3. Karpati G, Carpenter S, Pena SDJ (1981) Tracer and Marker Techniques in the Microscopic Study of Skeletal Muscles. Em: Methods and Achievements in Experimental Pathology, Vol.10, Cell Markers. (G.Jasmin, M.Catin, eds.). Basel, S.Karger, pp.101-137.

C4. Pena SDJ, Karpati G (1984) Molecular Sparks and Chemical Mediators in Muscle Regeneration. Em: Neuromuscular Diseases. (G.Serratrice, ed.) New York, Raven Press, pp. 149-155).

C5. Pena SDJ (1985) O fibroblasto de pele em cultura como modelo para o estudo de doenças neuromusculares humanas. Anais do IX Simpósio da Academia de Ciências do Estado de São Paulo, “Biologia de Células em Cultura”. pp. 257-268.

C6. Pena SDJ (1987) Aspectos Genéticos das Doenças Depressivas Em: Depressão na Infância. (J.R.S.Lippi, ed.) São Paulo, Ciba-Geigy, pp.19-24.

C7. Salzano FM, Pena SDJ (1989) Ethics and Medical Genetics in Brazil Em: Ethics and Human Genetics: A Cross-Cultural Perspective. (J.C.Fletcher, ed.) Heildeberg, Springer-Verlag. pp.100-118.

C8. Pena SDJ (1989) Aspectos Genéticos da Prática Obstétrica.Em: Tratado de Assistência Pré-Natal (J.M.Sales, N.Vitiello, I.S.C.Conceição, , P.R.B.Canella, eds.) São Paulo, Livraria Roca Ltda., pp. 477-492.

C9. Aguiar MJB, Pena SDJ (1989) A Criança com Malformaçöes. Em: Pediatria Ambulatorial (E.Leão, E.J.Correa, M.B.Viana, J.A.C.Mota, eds.) Belo Horizonte, COOPEMED Editora, 2a ed., pp. 111-119.

C10. Pena SDJ, Aguiar MJB (1989) O Recém-Nascido com Malformaçöes, sua Família. Em: Manual de Perinatologia (N.Alves Filho, M.D.Correa, eds.) Rio de Janeiro, MEDSI Editora Médica, Científica Ltda., Vol. l, pp. 43-54.

C11. Pena SDJ (1990) Princípios de Genética Médica Em: Gastroenterologia Pediátria (F.J.Penna, J.Wehba, U.Fagundes Neto eds.) Rio de Janeiro, MEDSI. pp. 1-15.

C12. Pena SDJ (1990) Doenças Metabólicas do Fígado. Em: Gastroenterologia Pediátrica (F.J.Penna, J.Wehba, U.Fagundes Neto eds.) Rio de Janeiro, MEDSI pp. 541-549.

C13. Pena SDJ (1990) Retinopathy-Hypotrichosis Syndrome. BEm: Birth Defects Enclyclopedia, (M.L.Buyse, ed.) Dover, Mass., EUA, Center for Birth Defects Information Services. pp. 1490-1491.

C14. Epplen JT, Ammer H, Epplen C, Kammerbauer C, Mitreiter R, Roewer L, Schwaiger W, Steimle V, Zischler H, Albert E, Andreas A, Beyermann B, Meyer W, Buitkamp J, Nanda I, Schmid M, Nurnberg P, Pena SDJ, Poche H, Specher W, Schartl M, Weising K and Yassouridis A (1991) Oligonucleotide fingerprinting using simple repeat motifs: a convenient, ubiquitously applicable method to detect hypervariability for multiple purposes. Em: DNA Fingerprinting: Approaches and Applications. (T.Burke, G.Dolf, A.J.Jeffreys and R.Wolff, eds.) Basel, Birkhäuser Verlag, pp. 50-69.

C15. Pena SDJ, Brasileiro Filho, G. (1992) Diagnóstico em Gastroenterologia pelo Estudo Direto do DNA. Em: Tópicos em Gastroenterologia 3 (L.P.Castro, P.R.S.Rocha, D.G.Carvalho eds.) Rio de Janeiro, MEDSI pp. 491-510.

C16. Pena SDJ (1992) Determinação de Paternidade pelo Estudo Direto do DNA: Estado da Arte no Brasil. Em: Direito de Família, do Menor: Tendências, Inovaçöes (S.F.Teixeira, ed.) Belo Horizonte, Del Rey, pp. 65-81.

C17. Jeffreys AJ, Pena SDJ (1993) A Brief Introduction to Human DNA Fingerprinting. Em: DNA Fingerprinting: State of the Science (S.D.J.Pena, R.Chakraborty, J.T.Epplen, A.J.Jeffreys, eds) Basel, Birkhãuser Verlag, pp. 1-20.

C18. Pena SDJ, Santos PC, Campos MCBN and Macedo AM (1993) Paternity testing with the F10 multilocus DNA fingerprinting probe. Em: DNA Fingerprinting: State of the Science (S.D.J.Pena, R.Chakraborty, J.T.Epplen, A.J.Jeffreys, eds) Basel, Birkhäuser Verlag, pp 237-247.

C19. Santos FR, Epplen JT, Pena SDJ (1993) Testing deficiency paternity cases with an Y-linked tetranucleotide repeat polymorphism. Em: DNA Fingerprinting: State of the Science (S.D.J.Pena, R.Chakraborty, J.T.Epplen, A.J.Jeffreys, eds) Basel, Birkhäuser Verlag, pp 261-265.

C20. Macedo AM, Vallejo GA, Pena SDJ (1993) DNA fingerprinting reveals relationships between strains of Trypanosoma rangeli and Trypanosoma cruzi. Em: DNA Fingerprinting: State of the Science (S.D.J.Pena, R.Chakraborty, J.T.Epplen, A.J.Jeffreys, eds) Basel, Birkhäuser Verlag, pp 321-329.

C21. Dias Neto E, Steindel M, Passos LKF, Souza CP, Rollinson D, Katz N, Romanha AJ, Pena SDJ and Simpson AJG (1993) The use of RAPDs for the study of the genetic diversity of Schistosoma mansoni and Trypanosoma cruzi. Em: DNA Fingerprinting: State of the Science (S.D.J.Pena, R.Chakraborty, J.T.Epplen, A.J.Jeffreys, eds) Basel, Birkhäuser Verlag, pp 331-337.

C22. Simpson AJG, Dias Neto E, Steindel M, Caballero OLSD, Passos LKJ, Pena SDJ (1993) The use of RAPDs for the analysis of parasites. Em: DNA Fingerprinting: State of the Science (S.D.J.Pena, R.Chakraborty, J.T.Epplen, A.J.Jeffreys, eds) Basel, Birkhäuser Verlag, pp 339-345.

C23. Pena SDJ, Barreto G, Vago AR, Fuzikawa A, Simpson AJG (1994) LSSP-PCR: a novel approach to the recognition of DNA sequences and detection of point mutations. Em: Miami Short Reports, Volume 4, Advances in Gene Technology: Molecular Biology and Human Disease (W.J.Whelan et al., eds) Oxford, IRL Press, p. 82.

C24. Pena SDJ, Barreto G, Ginther CL, Simpson AJG (1994) Mitochondrial D-loop signatures with Low Stringency Single Specific Primer PCR (LSSP-PCR): a novel approach to identity testing. Em: Fourth International Symposium on Human Identification, Promega Corporation, pp. 59-62.

C25. Fuzikawa AK, Pena SDJ (1995) Genetic perspectives in familial breast cancer. Em: Mastology – Breast Diseases (A.S.S. Figueira Fo, E.Novais-Rios, H.M.Salvador-Silva, A.C.S.D.Barros, eds) Excerpta Medica, International Congress Series 1067. Amsterdam, Elsevier, pg 152-158.

C26. Pena SDJ and Simpson AJG (1996) LSSP-PCR: Multiplex mutation detection using sequence-specific gene signatures. Em: Laboratory Protocols for Mutation Detection: (U. Landegren, ed) Oxford, Oxford University Press, pp. 42-49.

C27. Simpson AJG and Pena SDJ (1997) Sequence-specific gene signatures produced by LSSP-PCR. Em: The Detection of DNA Sequence Polymorphisms and Mutations: Methods and Applications (G.R.Taylor, ed.) CRC Press, pp. 132-148.

C28. Pena SDJ, Azevêdo ES (1998) O Projeto Genoma Humano e a Medicina Preditiva: Avanços Técnicos e Dilemas Éticos. Em: Iniciação à Bioética (S.I.F.Costa, V. Garrafa, G. Oselka eds.) Brasília, Conselho Federal de Medicina, pp. 139-156.

C29. Pena SDJ (1999) Engenharia Genética – DNA: A Testemunha mais Confiável em Determinação de Paternidade. Em: Repensando o Direito de Família – Anais do I Congresso Brasileiro de Direito de Família (R.C.Pereira, ed.) Belo Horizonte, Livraria Del Rey Editora Ltda., pp. 343-352.

C30. Santos FR, Carvalho-Silva DR, Pena SDJ (1999) PCR-based DNA profiling of human Y chromosomes. Em: DNA Profiling and DNA Fingerprinting. (J.T. Epplen, T. Lubjuhn, ed.) Basel, Birkhäuser Verlag, pp. 133-152.

C31. Pena SDJ, Carakushansky G (1999) A hora e vez da pediatria molecular. Temas de Pediatria Nestlê, 71: pp 1-15.

C32. Machado CR, Prado VF, Pena SDJ (1999) Aspectos genéticos do envelhecimento. Em: Clínica e Cirurgia Geriátrica (A. Petroianu e L. G. Pimenta, eds), Rio de Janeiro, Guanabara-Koogan, pp. 42-47.

C33. Pena SDJ (2000) Brief review of human genome diversity. Em: Current Options for the Human Genome Project. (S. Grisolia, ed.) Valencia, Fundacion BBV, pp. 183-190.

C34. Pena HB, Pereira RW, Pena SDJ (2000) Variação genética humana na susceptibilidade a doenças infecciosas. Em: Doenças Infecciosas na Infância e Adolescência (E. Tonelli, L.M.S.Freire, eds.) 2a edição. Medsi, Rio de Janeiro, Vol. 1, pp 71-80.

C35. Pena SDJ (2000) Aspectos bioéticos do projeto genoma humano e da medicina preditiva. Em: Direito e Medicina: aspectos jurídicos da medicina (S.F. Teixeira, ed.) Del Rey, Belo Horizonte, pp. 31-55.

C36. Pena SDJ (2001) Diagnóstico molecular em pediatria. Em: Doenças Genéticas em Pediatria. (G. Carakushansky, ed.) Rio de Janeiro, Ed. Guanabara Koogan, pp. 87-93.

C37. Vercesi AML, Pena SDJ (2001) Síndromes de microdeleções cromossômicas. Em: Doenças Genéticas em Pediatria. (G. Carakushansky, ed.) Rio de Janeiro, Ed. Guanabara Koogan, pp. 145-151.

C38. Haddad LA, Pena SDJ (2001) Biologia molecular em neuropediatria. Em: Compêndio de Neurologia Infantil. (L.F. Fonseca, G. Pianetti, C.C. Xavier, eds.) São Paulo, MEDSI, pp. 685-699.

C39. Pena SDJ (2001) Aplicações do genoma humano na medicina: medicina genômica. Em: Index Bronstein. (M. Bronstein, M.C. Cruz, eds.) Rio de Janeiro, Bronstein Medicina Diagnóstica, pp. 375-382.

C40. Caballero OL, Pena SDJ, Simpson AJG (2001) Câncer colorretal: expressão gênica e testes genéticos. Em: Tópicos em Gastroenterologia 11 – Avanços em Coloproctologia (L.P.Castro, P.R.Savassi-Rocha, A.Lacerda Filho, S.A.Conceição, eds.) Rio de Janeiro, MEDSI, pp. 101-118.

C41. Pena SDJ, Carvalho-Silva DR, Alves-Silva J, Prado VF, Santos FR (2001) Retrato molecular do Brasil. Em: O Imperador das Idéias – Gilberto Freyre em Questão. (J.Falcão, R.MB. Araújo, eds.) Rio de Janeiro, Fundação Roberto Marinho – Topbook Editora, pp. 283-300.

C42. Pena SDJ (2004) Retrato Molecular do Brasil Revisitado. Em: Cadernos PENESB 5 – Programa de Educação sobre o Negro na Sociedade Brasileira. (A.A.P. Brandão, Ed.). Niterói, Editora da Universidade Federal Fluminense, pp. 35-54.

C43. Pena SDJ (2005) Medicina Genômica. Em: Genômica. (L. Mir, Ed.) São Paulo, Editora Atheneu, pp. 185-192.

C44. Pena SDJ (2005) Parasitos e hospedeiros: evolução genômica sob o jugo da rainha vermelha. Em: Dinâmica das Doenças Infecciosas (JR Coura, ed.). Rio de Janeiro, Editora Guanabara Koogan, pp. 143-147.

C45. Pena SDJ (2005) Aconselhamento genético da criança com deficiência mental. Em: Deficiência Mental: Abordagem Multidisciplinar, Fascículo no. 4 da série. APAE de São Paulo, pp. 1-19.

C46. Aguiar MB, Pena SDJ (2006) O recém-nascido com malformações e sua família. Em: Perinatologia Básica (N.Alves Filho, M.D.Correa, J.M.Salles Alves, M.D.Correa Jr. eds.) 3ª Edição, Rio de Janeiro, MEDSI Editora Médica Científica Ltda, pp. 122-128.

C47. Aguiar MB, Pena SDJ (2006) Genética clínica em obstetrícia. Em : Perinatologia Básica (N.Alves Filho, M.D.Correa, J.M.Salles Alves, M.D.Correa Jr. eds.) 3ª Edição, Rio de Janeiro, MEDSI Editora Médica Científica Ltda, pp. 110-121.

C48. Suarez-Kurtz G, Pena SDJ (2007) Pharmacogenetic Studies in the Brazilian Population. Em : Pharmacogenomics in Admixed Populations (G. Suarez-Kurtz. ed.). Austin, Landes Bioscience, http://eurekah.com/, pp. 75-98.

C49. Pena SDJ (2007) The evolution and structure of human genetic diversity. Em : Pharmacogenomics in Admixed Populations (G. Suarez-Kurtz. ed.). Austin, Landes Bioscience, http://eurekah.com/, pp. 1-11.

C50. Pena SDJ (2007) Brazilians and the Variable Mosaic Genome Paradigm. Em: Fifty years of human genetics: A Festschrift/Liber Amicorum to celebrate the life and work of George Robert Fraser. (O. Mayo, ed.). Adelaide, Wakefield Press, pp. 98-104.

C51. Pena SDJ (2008) O impacto do Projeto Genoma Humano na sociedade do século 21. Em: João Antônio de Paula (Org.). A transdisciplinaridade e os desafios contemporâneos. Belo Horizonte: Editora UFMG, 2008, v. 1, pp. 173-180.

C52. Pena SDJ (2008) O impacto do Projeto Genoma Humano na sociedade do século 21. Em: João Antônio de Paula (Org.). A transdisciplinaridade e os desafios contemporâneos. Belo Horizonte: Editora da UFMG, pp. 181-190.

C53. Pena SDJ (2008) Criança com retardo mental. Em: Lincoln M.S. Freire (Org.). Diagnóstico Diferencial em Pediatria. Rio de Janeiro: Guanabara-Koogan, v. , pp. 782-788.

C54. Pena SDJ (2009) Desinventando as raças. Em: MA Landim e CR Moreira (Org.). Charles Darwin em um Futuro não tão Distante. São Paulo: Instituto Sangari, pp. 127-142.

C55. Birchal TS, Pena SDJ (2011) The biological nonexistence versus the social existence of human races: can science instruct the social ethos?. Em: S. Gibbon; M Sans; R.V. Santos (Org.). Racial Identities, Genetic Ancestry, and Health in South America: Argentina, Brazil, Colombia, and Uruguay. 1ed.Londres: Palgrave Macmillan, v. 1, pp. 69-102.

C56. Pena SDJ (2012) The new biotechnologies: promises, achievements and fantasies. Em: I. Domingues. (Org.). Biotechnologies and the Human Condition. 1ed., Belo Horizonte: Editora UFMG, v. 1, pp. 47-59.

C57. Pena SDJ, Birchal T, Lopes MS (2012) La inexistencia de razas y los derechos humanos. Em: V. Penchasadeh. (Org.). Genética y Derechos Humanos. 1ed. Buenos Aires: Paidós, v. 1, pp. 69-106.

C58. Pena SDJ (2012) The Brazilian ancestrome. Em: Kumar D (Org.). Genomics and Health in the Developing World. Nova Iorque: Oxford University Press, pp. 1209-1215.

C59. Pena SDJ, Heller AH, Borges MM, Pena BMA (2015) Diagnóstico pré-natal não invasivo pelo estudo do DNA no plasma materno para avaliação da saúde genética fetal e para determinação de paternidade. In: Federação Brasileira das Associações de Ginecologia e Obstetrícia; Urbanetz AA, Luz SH (Org.). PROAGO Programa de Atualização em Ginecologia e Obstetrícia: Ciclo 12. Porto Alegre: Artmed Panamericana, pp. 25-45. (Sistema de Educação Continuada a Distância, v. 2).

C60. Pena SDJ (2021) Bases genéticas e genômicas das doenças – cap.12. Em: Brasileiro-Filho G. Bogliolo Patologia. 10a ed. Rio de Janeiro, Guanabara Koogan, pp. 313-349.

C61. Pena SDJ (2021) An Overview of the Human Genome. Em: Haddad LA (Org.) Human Genome Structure, Function and Clinical Considerations Springer; 1st ed., pp. 1-24.

C62. Pena SDJ (2021) Genômica Clínica e Medicina Personalizada. Em: Costa ML e Mermelstein C (eds). Fronteiras da Medicina e Biologia. Conferências da Cátedra Carlos Chagas Filho de Fronteiras da Biologia e da Medicina do Colégio Brasileiro de Altos Estudos da Universidade Federal do Rio de Janeiro. Rio de Janeiro pp.302-322.

INTERESSE GERAL

Artigos de Interesse Geral

D1. Pena, S.D.J. (1986) Ponto de Vista: Nem todo vivente é pessoa. Veja, 6/8/1986.

D2. Pena, S.D.J. (1989) Novo método dá prova absoluta de paternidade. Folha de São Paulo, 1989.

D3. Pena, S.D.J. (2000) Debate: Patentes de genes – Uma questão técnica. Folha de São Paulo, 15/7/2000

D4. Pena, S.D.J. (2001) Opinião: Lições de vida do genoma humano. Folha de São Paulo, 23/1/2001

D5. Pena, S.D.J. (2001) A vida no mundo pós-genômico. Estado de São Paulo, 18/2/2001

D6. Pena, S.D.J. (2001) O diabo não faz remédio. Exame Negócios, Abril de 2001

D7. Pena. S.D.J. (2001) Opinião: Novo dualismo genômico. Folha de São Paulo, 4/10/2001

D8. Pena, S.D.J. (2002) Debate: Os vários significados da palavra raça. Folha de São Paulo, 20/12/2002

D9. Pena, S.D.J. (2003) De raças, racismo e sociobiologia. Galileu, Maio de 2003, pg. 82.

D10. Pena, S.D.J. (2003) Sou ou não sou o Pai? A certeza ao alcance de todos. Isto É São Paulo. 09/08/2003, pg.18.

D11. Pena, S.D.J. (2004) Resenha: O fascínio dos clones. Folha de São Paulo, Caderno Mais, 4/1/2004.

D12. Pena, S.D.J. (2004) Clonagem: limites e possibilidades. Diversa: Revista da Universidade Federal de Minas Gerais, no. 4. Maio 2004.

D13. Pena SDJ (2005) Primeira pessoa: O Febeapá que assola o país. Jornal da FUNDEP, no. 11, maio, pg. 6.

D14. Pena SDJ (2005) Resenha: Explorando a interface entre a antropologia e a genética. História, Ciências, Saúde. 12 (1): 221-224.

D15. Pena SDJ (2005) O triste caso do vestibular da Universidade de Brasília e a renascença do FEBEAPÁ. Comentário sobre artigo de Mayo e Santos. Horizontes Antropológicos, 23: 283-285.

D15-1. Pena SDJ (2005) Deficiência Mental: Abordagem Multidisciplinar (Aconselhamento genético da criança com deficiência mental), dezembro 2005. 

D16. PENA SDJ (2006) E o que diabo vem a ser a deriva genética? Ciência Hoje On-line, fevereiro de 2006.

D17. Pena SDJ (2006) O genoma joga dados? Ciência Hoje On-line, março de 2006.

D18. Pena SDJ (2006) Acidentes acontecem… Ciência Hoje On-line, abril de 2006.

D19. Pena SDJ (2006) O genoma humano, Jorge Luis Borges e a Biblioteca de Babel Ciência Hoje On-line, maio de 2006.

D20. Pena SDJ (2006) A guerra (genômica) dos sexos. Ciência Hoje On-line, junho de 2006.

D21. Pena SDJ (2006) Viva Lamarck (!?). Ciência Hoje On-line, julho de 2006.

D22. Pena SDJ (2006) Aristóteles, nosso contemporâneo. Ciência Hoje On-line, agosto de 2006.

D23. Pena SDJ (2006) Ciência, bruxas e raças. Folha de São Paulo, 02/08/2006

D24. Pena SDJ (2006) Receita para uma humanidade desracializada. Ciência Hoje On-line, setembro de 2006.

D25. Pena SDJ (2006) Pequena história da individualidade genética humana. Ciência Hoje On-line, outubro de 2006.

D26. Pena SDJ (2006) Uma vela no escuro. Ciência Hoje On-line, novembro de 2006.

D27. Pena SDJ (2006) Bebês à la carte?. Ciência Hoje On-line, dezembro de 2006.

D28. Pena SDJ (2007) Ciência Hoje On-line, janeiro de 2007.

D29. Pena, SDJ (2007) Darwin e Popper: enganos, retratação, reconciliação. Ciência Hoje On-line, fevereiro de 2007

D30. Pena, SDJ (2007) Mendel: o anti-herói – Ciência Hoje On-line – março de 2007

D31. Pena, SDJ (2007) A grande família – Ciência Hoje On-line – abril de 2007

D32. Pena, SDJ (2007) Um anti-racista à frente de seu tempo – Ciência Hoje On-line – maio de 2007

D33. Pena, SDJ (2007) O narrativismo evolucionário e o camaleão – Ciência Hoje On-line – junho de 2007

D34. Pena, SDJ (2007) O pluralismo evolucionário e o projeto Encode – Ciência Hoje On-line – julho de 2007

D35. Pena, SDJ (2007) Nós, as bactérias – Ciência Hoje On-line – agosto de 2007

D36. Pena, SDJ (2007) Afinal de contas, quem é você? – Ciência Hoje On-line – setembro de 2007

D37. Pena, SDJ (2007) Um inimigo dentro de nós? – Ciência Hoje On-line – outubro de 2007

D38. Pena, SDJ (2007) Grandes cientistas, homens perigosos? – Ciência Hoje On-line – novembro de 2007

D39. Pena, SDJ (2007) Sonata de Natal – Ciência Hoje On-line – dezembro de 2007

D40. Pena, SDJ (2008) Os melhores momentos genéticos de 2007 – Ciência Hoje On-line – janeiro de 2008

D41. Pena, SDJ (2008) Viva Baco! Baco viva! – Ciência Hoje On-line – fevereiro de 2008

D42. Pena, SDJ (2008) Anemia falciforme: uma doença molecular – Ciência Hoje On-line – março de 2008

D43. Pena, SDJ (2008) Anemia falciforme: uma doença geográfica – Ciência Hoje On-line – abril de 2008

D44. Pena, SDJ (2008) Humanidade à deriva – Ciência Hoje On-line – maio de 2008

D45. Pena, SDJ (2008) Os muitos genes da estatura humana – Ciência Hoje On-line – junho de 2008

D46. Pena, SDJ (2008) O DNA do racismo – Ciência Hoje On-line – julho de 2008

D47. Pena, SDJ (2008) Genealogia, linhagens ancestrais e DNA – Ciência Hoje On-line – agosto de 2008

D48. Pena, SDJ (2008) A galinha, a filosofia e a evolução – Ciência Hoje On-line – setembro de 2008

D49. Pena, SDJ (2008) Descobrindo a África no Brasil – Ciência Hoje On-line – outubro de 2008

D50. Pena, SDJ (2008) A banalidade do mal – Ciência Hoje On-line – novembro de 2008

D51. Pena, SDJ (2008) Epístola dezembrina – Ciência Hoje On-line – dezembro de 2008

D52. Pena, SDJ (2009) Mal de Chagas: a misteriosa doença de Darwin? – Ciência Hoje On-line – janeiro de 2009

D53. Pena, SDJ (2009) Infecções hospitalares: até quando? – Ciência Hoje On-line – fevereiro de 2009

D54. Pena, SDJ (2009) As muitas faces e facetas de Darwin – Ciência Hoje On-line – março de 2009

D55. Pena, SDJ (2009) Tupi or not tupi, that is the question – Ciência Hoje On-line – abril de 2009

D56. Pena, SDJ (2009) Parasitas, evolução e sexo – Ciência Hoje On-line – maio de 2009

D57. Pena, SDJ (2009) De raposas e ouriços – Ciência Hoje On-line – junho de 2009

D58. Pena, SDJ (2009) A biologia dos gêmeos – Ciência Hoje On-line – julho de 2009

D59. Pena, SDJ (2009) Sherlock Holmes e a genética dos gêmeos – Ciência Hoje On-line – agosto de 2009

D60. Pena, SDJ (2009) Do pensamento racial ao pensamento racional – Ciência Hoje On-line – setembro de 2009