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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.


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.


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 .


Inclui artigos de revisão e cartas ao editor.

B1. Pena, S.D.J., Goodman, H.D. (1973) The genetics of thanatophoric dwarfism. Pediatrics, 51, 104-109.

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

B3. Pena, S.D.J. (1973) Protein replacement therapy for genetic disease. Lancet. i. 907 (letter to the editor).

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

B5. Pena, S.D.J., Shokeir, M.H.K. (1974) Autosomal recessive cerebro-oculo-facio-skeletal (COFS) syndrome.Clinical Genetics. 5, 285-293.

B6. Pena, S.D.J., Shokeir, M.H.K. (1974) Syndrome of camptodactyly, multiple ankyloses, facial anomalies and pulmonary hypoplasia: a lethal condition. Journal of Pediatrics. 85, 373-375.

B7. Pena, S.D.J. (1974) Kleeblattschadel dwarfism - which one? Syndrome Identification. 2, 27 (letter to the editor).

B8. Chudley, A.E., Bauder, F., Ray, M., McAlpine, P.J., Pena, S.D.J., Hamerton, J.L. (1974) Familial mental retardation in a family with an inherited chromosomal rearrangement. Journal of Medical Genetics. ll, 353-366.

B9. Pena, S.D.J., Shokeir, M.H.K. (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, S.D.J., Ray, M. McAlpine, P.J., Ducasse, G.C., Briggs, J., Hamerton, J.L. (1976) Partial Trisomy 14 : is there a syndrome? Birth Defects : Original Article Series. XII (5), 113-118.

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

B12. Wrogemann, K, Pena.S.D.J., Blanchaer, M.C., Reimer, G.D., 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, S.D.J., Evans, J., Hunter, A.G.W. (1978) COFS Syndrome revisited. Birth Defects : Original Article Serie. XIV (6B), 205-213.

B14. Pena, S.D.J., 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, S.D.J., Quillian, N.M., Hamerton, J.L., 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, S.D.J., Vust, A., Tucker, D., Hamerton, J.L., 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, S.D.J., Hughes, R.C. (1978) Fibronectin-plasma membrane interactions in the adhesion and spreading of hamster fibroblasts. Nature, 276, 80-83.

B19. Pena, S.D.J., Mills, G., Hughes, R.C. (1979) Two-dimensional electrophoresis of surface glycoproteins of normal BHK cells and ricin resistant mutants. Biochimica Biophysica Acta. 550, 100-109.

B20. Pena, S.D.J. (1978) Is Duchenne Muscular Dystrophy a simple genic disorder? Lancet. i, 630 (letter to the editor).

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

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

B23. Pena, S.D.J. (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, S.D.J., Gordon, B.B., Karpati, G., Carpenter, S. (1981) Lectin Histochemistry of human muscle. Journal of Histochemistry and Cytochemistry 29, 542-546.

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

B26. Pena, S.D.J. (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, G.V., Pena, S.D.J. (1982) The branchio-skeletal-genital syndrome. Birth Defects : Original Article Series. XVIII (3B), 193-196.

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

B29. Mukherjee, B.B., Mobry, P.M., Pena, S.D.J. (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, M.W., Mukherjee, B.B., Pena, S.D.J. (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, S.D.J., 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, B.B., , Pena, S.D.J. (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, S.D.J., Opas, M., Kalnins, V.I., 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, H.D., Pena, S.D.J., 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, S.D.J. (1984) Relationship of genotype and in vitro contractility in mdg/mdg - +/+ "mosaic" myotubes. Muscle & Nerve.7, 194-203.

B36. Holland, P.C., Pena, S.D.J., Guerin, C.W. (1984) Developmental regulation of cell surface glycoproteins during myogenesis of rat L6 myoblasts. Biochemical Journal. 218, 465-473.

B37. Rocha, G.A., Pena, S.D.J. (1984) Absence of polymorphism of human plasma fibronectin studied by immunoelectrophoresis. Human Heredity. 34, 334-336.

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

B39. Pena, S.D.J., Karpati, G., Carpenter, S., Fraser, F.C. (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, H.D., Pena, S.D.J., Ecobichon, D.J. (1988) Hexacarbon effects on intermediate filament organization in human fibroblasts. Muscle & Nerve

B11, 160-165.

B41. Medeiros, A.C., Macedo, A.M., Pena, S.D.J. (1988) A simple non-isotopic method for DNA fingerprinting with M13 phage. Nucleic Acids Research. 16, 10394.

B42. Pena, S.D.J. and Penna, M.L.F. (1988) O prognatismo mandibular dos Habsburgo na família imperial brasileira. Revista Brasileira de Genética. 11, 1017-1021.

B43. Macedo, A.M., Medeiros, A.C., Pena, S.D.J. (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, M.L.F., Fontoura, E.R., Pena, B.M.A., , Pena, S.D.J. (1989) Chromosome digestion with the restriction enzyme AluI: a simple method of C-banding. Revista Brasileira de Genética. 12, 127-131.

B45. Gontijo, N.F., Pena, S.D.J. (1989). BNon-isotopic DNA fingerprinting in dried agarose gels. Fingerprint News, 1 (3): 6-7.

B46. Reis, D.A., Prado, V.F., Farah, L.M., Pena, S.D.J. (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, A.C., Macedo, A.M., Pena, S.D.J. (1989) M13 Bioprints : Non-isotopic detection of individual-specific human DNA fingerprints with biotinylated M13 bacteriophage. Forensic Science International. 43, 275-280.

B48. Pena, S.D.J., Macedo, A.M., Braga V.M.M., Rumjanek, F.D., Simpson, A.J.G. (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, V.F., Reis, D.A., Pena, S.D.J. (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, N.F., Ribeiro, J.C.C., Pena, S.D.J. (1990) Direct hybridization of biotin labeled probes in dried agarose gels. Trends in Genetics. 6, 3.

B51. Macedo, A.M., Melo, M.N., Pena, S.D.J. (1990) Identification of species of Leishmania by DNA fingerprinting. Fingerprint News. 2 (1), 11.

B52. Gontijo, N.F., Ribeiro, J.C.C., Pena, S.D.J. (1990) Non-isotopic hybridization in dried agarose gels with biotinylated oligonucleotide probes. Focus. 12, 55-57.

B53. Pena, S.D.J., Nunes, A.C. (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, M.J., Machado, M.N., Pena, S.D.J. (1991) SINDROMES : a program for computer-assisted diagnosis of malformation syndromes. Revista Brasileira de Genética, 13, 197-201.

B55. Pena.S.D.J., Macedo, A.M, Gontijo, N.F., Medeiros, A.C., Ribeiro, J.C.C. (1991) DNA BIOPRINTS: simple non-isotopic DNA fingerprints with biotinylated probes. Electrophoresis, 12, 146-152.

B56. Simpson, A.J.G, Pena, S.D.J. (1991) Host-related DNA sequences in the schistosome genome? Parasitology Today, 7, 266.

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

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

B59. Macedo, A.M., Melo, M.N., Gomes, R.F., Pena, S.D.J. (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, E.M., Brasileiro Filho, G., Pena, S.D.J. (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, S.D.J. (1992) First South-North Human Genome Conference. Gene, 120, 327-328.

B62. Pena, S.D.J., Simpson, A.J.G. (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, C.P., Rollinson, D., Katz, N., Pena, S.D.J., Simpson, A.J. (1993) Arbitrarily primed PCR allows the identification of strains and species of schistosomes. Molecular Biochemical Parasitology, 57, 83-88.

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

B65. Santos, F.R., Pena, S.D.J., 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, G.A., Chiari, E., Macedo, A.M., Pena, S.D.J. (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, F.R., Pena, S.D.J., Simpson, A.J. (1993) Sex determination by low stringency PCR (LS-PCR).Nucleic Acids Research, 21, 763-764.

B68. Pena, S.D.J., Jeffreys, A.J. (1993) Breve introdução às impressões digitais de DNA. Revista Brasileira de Genética, 15, 857-879.

B69. Haddad, L.A., Pena, S.D.J. (1993) CAT repeat polymorphism in a human expressed sequence tag (EST 00444) (D13S308). Human Molecular Genetics, 2, 1748.

B70. Pena, S.D.J., Souza, K.T., 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, S.D.J., Barreto, G., Vago, A.R., De Marco, L., Reinach, F.C., Dias Neto, E., Simpson, A.J.G. (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, S.D.J., Santos, P.C., Campos, M.C.B.N. and Macedo, A.M. (1994) Paternity testing in Brazil by DNA fingerprinting with the multilocus probe F10. Ciência & Cultura, 45, 236-240.

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

B74. Vallejo, G.A., Macedo, A.M., Chiari, E., Pena, S.D.J. (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. Franco, G.R., Adams, M.D., Bento Soares, M., Simpson, A.J.G., Venter, J.C., Pena, S.D.J. (1995) Identification of new Schistosoma mansoni genes by the EST strategy using a directional cDNA library. Gene, 152, 141-147.

B76. Tanaka, M., Hirai, H., LoVerde, P.T., Nagafuchi, S., Franco, G.R., Simpson, A.J.G, Pena, S.D.J. (1995) Yeast artificial chromosome (YAC) - based genome mapping of the human trematode Schistosoma mansoni. Molecular Biochemical Parasitology, 69, 41-51.

B77. Pena, H.B., Souza, C.P., Simpson, A.J.G., Pena, S.D.J. (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.

B78. Pena, S.D.J. (1994) Conflitos paradigmáticos, a ética do projeto genoma humano. Revista USP, 24, 68-73. (Publicado em 1995)

B79. Franco, G.R., Simpson, A.J.G., Pena, S.D.J. (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.

B80. Simpson, A.J.G., Dias Neto, E., Pena, H.B., Pena, S.D.J. (1995) The detection of DNA polymorphism in schistosomes and their snail hosts. Memórias do Instituto Oswaldo Cruz, 90, 211-213.

B81. Pena, S.D.J. (1994) Human individuality testing: applications in biomedicine. Ciência & Cultura, 46, 207-210.

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

B83. Villa, L.L., Caballero, O.L., Levi, J.E., Pena, S.D.J., Simpson, A.J.G. (1995) An approach to human papillomavirus identification using low stringency single specific primer PCR. Molecular Cellular Probes, 9, 45-48.

B84. Alves, M.S.D., Martins, M.S., Pena, S.D.J. (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, S.D.J. (1995) Mysterious migrations. Genome Digest 2(4), 7-8.

B86. Gomes, R.F., Macedo, A.M., Melo, N.M., Pena, S.D.J. (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, S.D.J., Santos, F.R, Bianchi, N.O., 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, F.R., Pena, S.D.J., 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, F. R., Hutz, M., Coimbra, C.E.A., Santos, R.V., Salzano, F.M., Pena, S.D.J. (1995) Further evidence for the existence of a major founder Y chromosome haplotype in Amerindians. Brazilian Journal of Genetics, 18, 669-672

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

B91. Pena, S. D.J., Prado, V.F. and Epplen, J.T. (1995) Diagnosis of human genetic individuality. Journal of Molecular Medicine, 73, 555-564.

B92. Barreto, G., Vago, A.R., Ginther, C.L., Simpson, A.J.G., Pena, S.D.J. (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, F. R., Gerelsaikhan, T., Munkhtuja, B, Oyunsuren, T., Epplen, J.T., Pena, S.D.J. (1996) Geographic differences in the allele frequencies of the human Y-linked tetranucleotide polymorphism DYS19. Human Genetics, 97, 309-313.

B94. Carakushansky, G., Aguiar, M.B., Ribeiro, M.G., Berthier, C.O., Kahn, E., Pena, S.D.J. (1996) Identical twin discordance for the Brachmann-de Lange syndrome revisited. American Journal of Medical Genetics, 63, 458-460.

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

B96. Santos, F.R., Rodriguez-Delfin, L., Pena, S.D.J., 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, L.A., Mingroni-Neto, R.C., Vianna-Morgante, A.M., Pena, S.D.J. (1996) A PCR-based diagnostic test for Fragile X syndrome suitable for screening among mentally retarded males. Human Genetics, 97: 808-812.

B98. Franco, G.R., Pena, S.D.J. (1996) A small directory of World Wide Web sites for human molecular genetics. Brazilian Journal of Genetics, 19, 371-374.

B99. Santos, F.R., Bianchi, N.O., Pena, S.D.J. (1996) Worldwide distribution of human Y chromosome haplotypes. Genome Research, 6, 601-611.

B100. Dias Neto, E., Harrop, R., Correa-Oliveira, R., Pena, S.D.J., Wilson, R.A., Simpson, J.G. (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, A.R., Macedo, A.M. Oliveira, R.P., Andrade, L.O., Chiari, E., Galvão, L.M.C. Reis, D. A., Pereira, M.E.S., Simpson, A.J.G., Tostes, S., Pena, S.D.J. (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, R.A., Pena, S.D.J., Simpson, J.G. (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, N.O., Baillet, G., Bravi, C.M., Carnese, R.F., Rothhammer, F., Martinez-Marignac, V.L., Pena, S.D.J. (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, A.M., Chiari, E., Pena, S.D.J. (1997) Alternative approaches to evaluate the intraspecific genetic variability of parasites. Parasitology Today, 13, 196-200.

B105. Vago, A.R., Pena, S.D.J. (1997) Laboratory techniques for the detection of mutations in DNA. Brazilian Journal of Genetics, 20, 339-344.

B106. Franco, G.R., Rabelo, E.M.L., Azevedo, V., Pena, H.B., Ortega, J.M., Santos, T.M., Meira, W.S.F., Rodrigues, N.A., Dias, C.M.M., Harrop, R., Wilson, A., Saber, M., Abdel-Hamid, H., Faria, M.S.C., Margutti, M.E.B., Parra, J.C.., Pena, S.D.J. (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, L.O., Fuzikawa, A., Pena, S.D.J. (1997) Simultaneous detection of size and sequence variation in the polymorphic microsatellite D2S184A (EST 00493). Human Genetics, 99, 796-800.

B108. Janotti-Passos, L.K., Vidigal, T.H.D.A., Dias-Neto, E., Pena, S.D.J., Simpson, A.J.G., Dutra, W.O., Souza, C.P. and Carvalho-Parra, J.F. (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, O.L.S.D., Vidigal, T.H.D.A., Pena, S.D.J., Simpson, A.J.G. (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, E.M.L., Franco, G.R., Azevedo, V., Pena, H.B., Santos, T.M., Meira, W.S.F., Rodrigues, N.A., Ortega, J.M., Pena, S.D.J. (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, G.R., Pena, S.D.J., Simpson, A.J.G., Goes, A.M. B(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, S.D.J., Carvalho-Silva , D.R., Santos, F.R. (1997) Utilização de polimorfismos de DNA do cromossomo Y no estudo do povoamento das Américas. Revista USP, 34: 44-57.

B113. Fuzikawa, A.K., Haddad, L.A., Cunha-Melo, J.R., Brasileiro Filho, G., Pena, S.D.J. (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, V.F., Castro, A.K.F., Oliveira, C.L., Souza, K.T., Pena, S.D.J. (1997) Extraction of DNA from human skeletal remains: practical application in forensic sciences. B Genetic Analysis (Biomolecular Engineering). 14: 41-44..

B115. Haddad, L.A., Pena, S.D.J. (1993) EST00444 (D13S308E) maps to 13q12.1. Cytogenetics and Cell Genetics, 78: 20.

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

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

B118. Macedo, A.M., Pena, S.D.J. (1998) Genetic variability of Trypanosoma Cruzi: Implications for the pathogenesis of Chagas’ disease. Parasitology Today, 14: 119-124.

B119. Oliveira, R.P. Broude, N.E. Macedo, A.M., Cantor, C.R., Smith, C.L., Pena, S.D.J. (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, M.L., Macedo, A.M., Vago, A.M., Pena, S.D.J., Galvão, L.M.C., Chiari, E. (1998) Trypanosoma cruzi: optimization of polymerase chain reaction for detection in human blood. Experimental Parasitology, 88: 28-33.

B121. Sturzeneker, R., Haddad, L.A, Bevilacqua, R.A.U., Simpson, A.J.G. and Pena, S. D. J. (1998) Polarity of mutations in tumor-associated microsatellite instability. Human Genetics, 102: 231-235.

B122. Gomes, M.L., Macedo, A.M., Pena, S.D.J., 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, G.R., Pena, S.D.J., 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, E.M.L., Hobaika, A.B.S., Coelho, P.M.Z., Pena, S.D.J. (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, W.S.F., Franco, G.R., Rabelo, E.M.L., Pena, S.D.J. (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, S.D.J. (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, A.J.G., Pena, S.D.J. (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, L.A., Parra, F.C., Pena, S.D.J. (1998) Characterization and mapping of four novel human expressed polymorphic trinucleotide microsatellites. GENE, 223, 369-374.

B129. Zouain, C.S., Azevedo, V.A., Franco, G.R., Pena, S.D.J., 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, S.D.J. (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, P.B.M., Rocha, J.M., Pena, S.D.J. and Prado, V.F. (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, F.R., Pandya, A., Tyler-Smith, C., Pena, S.D.J., Schanfield, M., Leonard, W.R., Osipova, L., Crawford, M.H., Mitchell, R.J. (1999) The central Siberian origin for Native American chromosomes. American Journal of Human Genetics 64: 619-628.

B133. Gomes, M.L., Galvão, L.M.C., Macedo, A.M., Pena, S.D.J., 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, M.S., Pena, S.D.J. and Prado, V.F. (1999) High frequency of the 9-bp mtDNA deletion among Brazilian Caucasians. Human Biology, 71: 245-259.

B136. Haddad, L.A., Aguiar, M.J.B., Costa, S.S., Mingroni-Neto, R.C., Vianna-Morgante, A.M., Pena, S.D.J. (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, M.R., Aguiar, M.J.B., Pena, S.D.J. (1999) Prevalence of Prader-Willi and Angelman syndromes among mentally retarded boys in Brazil. Journal of Medical Genetics, 36: 498-499.

B138. Andrade, L.O., Machado, C.R.S., Chiari, E., Pena, S.D.J., Macedo, A.M. (1999) Differential tissue distribution of diverse clones of Trypanosoma cruzi in infected mice. Molecular Biochemical Parasitology, 100: 163-172.

B139. Pena, S.D.J., 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, D.R., Santos, F.R., Hutz, M.H., Salzano, F.M., Pena, S.D.J. (1999) Divergent human Y chromosome microsatellite evolution rates. Journal of Molecular Evolution, 49:204-214.

B141. Oliveira, R.P., Melo, A.I.R., Macedo, A.M., Chiari, E., Pena, S.D.J. (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, T.M., Johnston, D.A., Azevedo, A., Ridgers, I.L., Fernandez, M., Marotta, G.B., Santos, R.L., Fonseca, S.J., Ortega, J.M., Rabelo, E.M.L., Saber, M., Abdel-Hamid, H., Franco, G.R., Rollinson, D., Pena, S.D.J. (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, S.D.J. (1999) Clonagem humana: aspectos científicos e éticos. Biotecnologia Ciência & Desenvolvimento. II (11 - Encarte Especial): 113-122.

B144. Sturzeneker, R., Bevilacqua, R.A.U., Haddad, L.A., Simpson, A.J.G., Pena, S.D.J. (2000) Microsatellite instability in tumors as a model to study the process of microsatellite mutations. Human Molecular Genetics, 9: 347-352.

B145. Pereira, R.W., Sturzeneker, R., Pena, S.D.J. (2000) Screening fetal losses for monosomy X with a simple PCR-based procedure. Genetics and Molecular Biology 23: 11-14.

B146. Vago, A.M., Andrade, L.O., Leite, A.A., Reis, D.d'A., Macedo, A.M., Adad, S.J., Tostes, S., Moreira, M.C.V, Brasileiro Filho, G., Pena, S.D.J. (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.

B147. Carvalho-Silva, D.R., Pena, S.D.J. (2000) Molecular characterization and population study of an X chromosome homologue of the Y-linked microsatellite DYS391. Gene, 247: 233-240.

B148. Pena, S.D.J. (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.

B149. Pena, S.D.J., Carvalho-Silva, D.R., Alves-Silva, J., Prado, V.F., Santos, F.R. (2000) Retrato molecular do Brasil. Ciência Hoje 27 (159): 16-25.

B150. Pena, S.D.J., Santos, F.R. (2000) Origen de los Amerindios. Investigacion y Ciência, 287: 48-54.

B151. Alves-Silva, J., Santos, M.S., Guimarães, P.E.M., Ferreira, A.C.S., Bandelt, H.-J., Pena, S.D.J., Prado, V.F., Santos, F.R. (2000) The ancestry of Brazilian mtDNA lineages. American Journal of Human Genetics, 67: 444-461.

B152. Pena, S.D., Santos, F.R. (2000) L'origine des Amérindiens. Pour la Science, 227: 82-85.

B153. Pereira, R.W., Pires, E.R., Duarte, A.P.M., de Moura, R.P., Monteiro, E., Torloni, H., Proietti, A.B., Simpson, A.J.G., Pena, S.D.J. (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, E.M., Coelho, P.M., Pena, S.D. (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, F.R., Rocha, J., Pena, S.D.J. (2001) The phylogeography of Brazilian Y chromosome lineages. American Journal of Human Genetics, 68: 281-286.

B156. Simpson, A.J.G., Caballero, O.L., Pena, S.D.J. (2001) Microsatellite instability as a tool for the classification of gastric cancer. Trends in Molecular Medicine, 2: 76-80.

B157. Macedo, A.M., Pimenta, J.R., Aguiar, R.S., Chiari, E., Zingales, B., Pena, S.D., Oliveira, R.P. (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, D.R., Pettener, D., Luiselli, D., DeStefano, G.F., Labarga, C.M., Rickards, O., Tyler-Smith, C., Pena, S.D.J., Santos, F.R. (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, D.C., Teixeira, S.M.R., Pena, S.D.J., Machado, C.R. (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, D.R., Pettener, D., Luiselli, D., DeStefano, G.F., Labarga, C.M., Rickards, O., Tyler-Smith, C., Pena, S.D.J., Santos, F.R. (2001) Reply to Rothhammer and Moraga. American Journal of Human Genetics, 69: 904-906.

B161. Silva, E.L., Crema, E., Ramirez, L.E., Macedo, A.M., Pena, S.D.J., 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, A.M., Oliveira, R.P., Pena, S.D.J. (2002) Chagas disease: role of parasite variation in pathogenesis. Expert Reviews in Molecular Medicine, 5 March 2002,


B164. Freitas, R.N., Brasileiro-Filho, G., Silva, M.E., Pena, S.D.J. (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, A.F., Fantappie, M.R., LoVerde, P.T., Pena, S.D.J., Rumjanek, F.D. Franco, G.R. (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, T.M., Machado, C.R., Franco, G.R., Pena, S.D.J. (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, A.M., Pena, S.D.J. (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, F.C, Amado, R.C. Lambertucci, J.R., Rocha, J., Antunes, C.M., Pena, S.D.J. (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, S.M.R., Pena, SDJ., Machado, C.R. (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.

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.

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.

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. B(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 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. B Oncogene, [Epub ahead of print] 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. 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, no prelo.

B222. 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, no prelo.

B223. 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, No prelo.

B224. Marrero AR, Bravi CM , Stuart S, Long JC, Leite FPN, Kommers TC, Carvalho C, Pena SDJ, Ruiz-Linares A, Salzano FM1, Bortolini MC (2007) The Gaucho genetic history – gene dynamics in southern Brazil. Human Heredity, No prelo

B225. 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

B226. Linhares ND, Freire MC, Cardenas RG, Pena HB, Bahia M, Pena SD. (2014) Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis. Eur J Med Genet. 2014 Sep 18. pii: S1769-7212(14)00171-2. doi: 10.1016/j.ejmg.2014.08.010.

B227. Nicholas M. Allen,  Judith Conroy, Amre Shahwan, Bryan Lynch, Raony G. Correa, Sergio D. J. Pena, Dara McCreary, Tiago R. Magalhaes, Sean Ennis, Sally A. Lynch, and Mary D. King. (2015) Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.

B228. Cardenas RGCCL, Linhares ND, Pena SDJ, Mendel MD (2015) A user-friendly online program for clinical exome analysis. Bmc bioinformatics16, p. A2.

B229. 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, 36.

B230. 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.

B231 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 (2016) A genetic cluster of Xeroderma pigmentosum variant patients with two different founder mutations. British journal of dermatology (1951 Print), 176, p Eprint.

B232. 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.

B233. 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.

B234. 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. New native south american y chromosome lineages. Journal of human genetics (print), 61.

B235. 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), 13, p. E1005520.

B236. 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.

B237. 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.

B238. 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 l (2017) Catalase expression impairs oxidative stress-mediated signalling in Trypanosoma cruzi. Parasitology (Cambridge. Online), 145, p. 1-13.

B239. 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.

B240. 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 RS7, Gomes DA, Pires DEV8, Ascher DB, Yu H, Pena SDJ.Familial STAG2 germline mutation defines a new human cohesinopathy. NPJ Genomic Medicine, 2, p.7.

B241. 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 (Linhares et al., 2014)" turns out to be EBV+ leiomyomatosis caused by CARMIL2 mutations (2017) European journal of medical genetics, 60, p. 1, 2017.

B242. 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.

B243. 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.

B244. 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 (print), 212, p. Epub.


Capítulos de Livros

C1. Hughes, R.C., Pena, S.D.J., Vischer, P. (1980) 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, R.C., Pena, S.D.J. (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, S.D.J. (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, S.D.J., 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, S.D.J. (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, S.D.J. (1987) Aspectos Genéticos das Doenças Depressivas Em: Depressão na Infância. (J.R.S.Lippi, ed.) São Paulo, Ciba-Geigy, pp. 19-24.

C7. Salzano, F.J., Pena, S.D.J. (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, S.D.J., Aguiar, M.J.B. (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.

C9. Pena, S.D.J. (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.

C10. Aguiar, M.J.B., Pena, S.D.J. (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.

C11. Pena, S.D.J. (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, S.D.J. (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, S.D.J. (1990) Retinopathy-Hypotrichosis Syndrome. BEm: Birth Defects Enclyclopedia, (M.L.Buyse, ed.) Dover, Mass., EUA, Center for Birth Defects Information Services. pp. 1490-1491.

B14. Epplen, J.T., 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, S.D.J., 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, pg. 50-69.

C15. Pena, S.D.J., 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, S.D.J. (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, A.J., Pena, S.D.J. (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, pg. 1-20.

C18. Pena, S.D.J., Santos, P.C., Campos, M.C.B.N. and Macedo, A.M. (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, pg 237-248..

C19. Santos, F.R., Epplen, J.T., Pena, S.D.J. 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, pg 261-266..

C20. Macedo, A.M., Vallejo, G.A., Pena, S.D.J. (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, pg 321-330.

C21. Dias Neto, E., Steindel, M., Passos, L.K.F., Souza, C.P., Rollinson, D., Katz, N., Romanha, A.J, Pena, S.D.J. and Simpson, A.J.G. (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, pg 331-338.

C246. Simpson, A.J.G., Dias Neto, E., Steindel, M., Caballero, O.L.S.D., Passos, L.K.J., Pena, S.D.J. (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, pg 339-346.

C247. Pena, S.D.J., Barreto, G., Vago, A.R., Fuzikawa, A., Simpson, A.J.G. 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, pg 82, 1994

C22. Pena, S.D.J., Barreto, G., Ginther, C.L., Simpson, A.J.G. (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.

C23. Fuzikawa, A.K., Pena, S.D.J. (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.

C24. Pena, S.D.J. and Simpson, A.J.G. (1996) LSSP-PCR: Multiplex mutation detection using sequence-specific gene signatures. Laboratory Protocols for Mutation Detection: (U. Landegren, ed) Oxford, Oxford University Press, pp. 42-49.

C25. Simpson, A.J.G. and Pena, S.D.J. (1997) Sequence-specific gene signatures produced by LSSP-PCR. In The Detection of DNA Sequence Polymorphisms and Mutations: Methods and Applications (G.R.Taylor, ed.) CRC Press, pp. 132-148.

C26. Pena, S.D.J., Azevêdo, E.S. (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, pg. 139-156.

C27. Pena, S.D.J. (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., pg. 343-352.

C28. Santos, F.R., Carvalho-Silva , D.R., Pena, S.D.J. (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.

C29. Pena, S.D.J., Carakushansky, G. (1999) A hora e vez da pediatria molecular. Temas de Pediatria Nestlê, 71: 1-15.

C30. Machado, C.R., Prado, V.F., Pena, S.D.J. (1999) Aspectos genéticos do envelhecimento. Em: Clínica e Cirurgia Geriátrica (A. Petroianu e L. G. Pimenta, eds), Rio de Janeiro, Guanabara-Koogan, pg. 42-47.

C31. Pena, S.D.J. (2000) Brief review of human genome diversity. Em: Current Options for the Human Genome Project. (S. Grisolia, ed.) Valencia, Fundacion BBV, pp. 183-190.

C32. Pena, H.B., Pereira, R.W., Pena, S.D.J. (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.

C33. Pena, S.D. (2000) Aspectos bioéticos do projeto genoma humano e da medicina preditiva. Em: Direito e Medicina (S.F. Teixeira, ed.) Del Rey, Belo Horizonte, pp. 31-55.

C34. Pena, S.D.J. (2001) Diagnóstico molecular em pediatria. Em: Doenças Genéticas em Pediatria. (G. Carakushansky, ed.) Rio de Janeiro, Ed. Guanabara Koogan, pp. 87-93.

C35. Vercesi, A.M.L., Pena, S.D.J. (2001) Síndromes de microdeleções cromossômicas. Em: Doenças Genéticas em Pediatria. (G. Carakushansky, ed.) Rio de Janeiro, Ed. Guanabara Koogan, pp. 145-151.

C36. Haddad, L.A., Pena, S.D.J. (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.

C37. Pena, S.D.J. (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.

C38. Caballero, O.L., Pena, S.D.J., Simpson, A.J.G. (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.

C39. Pena, S.D.J., Carvalho-Silva, D.R., Alves-Silva, J., Prado, V.F., Santos, F.R. (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.

C40. 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, pg. 35-54.

C41. Pena SDJ (2005) Medicina Genômica. Em: Genômica. (L. Mir, Ed.) São Paulo, Editora Atheneu, pp. 185-192.

C42. 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.

C43. 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.

C44. 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, pg. 122-128.

C45. 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, pg 110-121.

C46. Suarez-Kurtz G, Pena SDJ (2006) Pharmacogenetic Studies in the Brazilian Population. Em : Pharmacogenomics in Admixed Populations (G. Suarez-Kurtz. ed.). Austin, Landes Bioscience, https://eurekah.com/, No prelo.

C47. Pena SDJ (2006) The evolution and structure of human genetic diversity. Em : Pharmacogenomics in Admixed Populations (G. Suarez-Kurtz. ed.). Austin, Landes Bioscience, https://eurekah.com/, No prelo.

C48. 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, No prelo.

C49. Pena SDJ, Martins da Costa HBBL, Carvalho HF, Sturzeneker R (2007) Investigação genética das perdas gestacionais e dos casais com perdas repetidas. Em: Medicina Fetal (E Isfer, ed.). Rio de Janeiro, MEDSI Editora Médica, Científica Ltda. No prelo.


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