Publications
Found 11 results
Filters: Author is S.D.J. Pena [Clear All Filters]
“A multiplex panel of short-amplicon insertion-deletion DNA polymorphisms for forensic analysis”, vol. 14, pp. 2947-2952, 2015.
, “Modulation of expressivity in PDGFRB-related infantile myofibromatosis: a role for PTPRG?”, vol. 13. pp. 6287-6292, 2014.
, “MULTINDELS-BOV: Zebu traceback method based on DNA insertion-deletion polymorphisms”, vol. 13, pp. 9171-9186, 2014.
, “Pharmacogenomics: accessing important alleles by imputation from commercial genome-wide SNP arrays”, vol. 13, pp. 5713-5721, 2014.
, “Efficient human paternity testing with a panel of 40 short insertion-deletion polymorphisms”, vol. 9, pp. 601-607, 2010.
, American Association of Blood Banks (AABB) (2006). Annual Report Summary for Testing in 2006. Available at [http://www.gep-isfg.org/documentos/AABB%202006.pdf]. Accessed March 1, 2010.
Ayres KL (2005). The expected performance of single nucleotide polymorphism loci in paternity testing. Forensic Sci. Int. 154: 167-172.
http://dx.doi.org/10.1016/j.forsciint.2004.10.004
PMid:16182962
Bastos-Rodrigues L, Pimenta JR and Pena SD (2006). The genetic structure of human populations studied through short insertion-deletion polymorphisms. Ann. Hum. Genet. 70: 658-665.
http://dx.doi.org/10.1111/j.1469-1809.2006.00287.x
PMid:16907710
Børsting C, Rockenbauer E and Morling N (2009). Validation of a single nucleotide polymorphism (SNP) typing assay with 49 SNPs for forensic genetic testing in a laboratory accredited according to the ISO 17025 standard. Forensic Sci. Int. Genet. 4: 34-42.
http://dx.doi.org/10.1016/j.fsigen.2009.04.004
PMid:19948332
Budowle B, Moretti TR, Baumstark AL, Defenbaugh DA, et al. (1999). Population data on the thirteen CODIS core short tandem repeat loci in African Americans, U.S. Caucasians, Hispanics, Bahamians, Jamaicans, and Trinidadians. J. Forensic Sci. 44: 1277-1286.
PMid:10582369
Butler JM (2005). Forensic DNA Typing: Biology, Technology and Genetics of STR Markers. 2nd edn. Elsevier Academic Press, Amsterdam.
Cifuentes LO, Martinez EH, Acuna MP and Jonquera HG (2006). Probability of exclusion in paternity testing: time to reassess. J. Forensic Sci. 51: 349-350.
http://dx.doi.org/10.1111/j.1556-4029.2006.00064.x
PMid:16566769
Gjertson DW, Brenner CH, Baur MP, Carracedo A, et al. (2007). ISFG: Recommendations on biostatistics in paternity testing. Forensic Sci. Int. Genet. 1: 223-231.
http://dx.doi.org/10.1016/j.fsigen.2007.06.006
PMid:19083766
Guo SW and Thompson EA (1992). Performing the exact test of Hardy-Weinberg proportion for multiple alleles. Biometrics 48: 361-372.
http://dx.doi.org/10.2307/2532296
PMid:1637966
Inagaki S, Yamamoto Y, Doi Y, Takata T, et al. (2004). A new 39-plex analysis method for SNPs including 15 blood group loci. Forensic Sci. Int. 144: 45-57.
http://dx.doi.org/10.1016/j.forsciint.2004.03.005
PMid:15240020
Jeffreys AJ and Pena SDJ (1993). A Brief Introduction to Human DNA Fingerprinting. In: DNA Fingerprinting: State of the Science (Pena SDJ, Chakraborty R, Epplen JT and Jeffreys AJ, eds.). Birkhãuser Verlag, Basel, 1-20.
http://dx.doi.org/10.1007/978-3-0348-8583-6_1
Klintschar M and Neuhuber F (1998). A study on the short tandem repeat system ACTBP2 (SE33) in an Austrian population sample. Int. J. Legal Med. 111: 46-48.
http://dx.doi.org/10.1007/s004140050111
PMid:9457540
Krawczak M (1999). Informativity assessment for biallelic single nucleotide polymorphisms. Electrophoresis 20: 1676-1681.
http://dx.doi.org/10.1002/(SICI)1522-2683(19990101)20:8<1676::AID-ELPS1676>3.0.CO;2-D
Leopoldino AM and Pena SD (2003). The mutational spectrum of human autosomal tetranucleotide microsatellites. Hum. Mutat. 21: 71-79.
http://dx.doi.org/10.1002/humu.10153
PMid:12497633
Mansfield ES, Robertson JM, Vainer M, Isenberg AR, et al. (1998). Analysis of multiplexed short tandem repeat (STR) systems using capillary array electrophoresis. Electrophoresis 19: 101-107.
http://dx.doi.org/10.1002/elps.1150190118
PMid:9511870
Nachman MW and Crowell SL (2000). Estimate of the mutation rate per nucleotide in humans. Genetics 156: 297-304.
PMid:10978293 PMCid:1461236
Pena SDJ (1999). Single-tube single-colour multiplex PCR amplification of ten polymorphic microsatellites (ALF10): a new powerful tool for DNA profiling. Pure Appl. Chem. 71: 1683-1690.
http://dx.doi.org/10.1351/pac199971091683
Pena SD, Bastos-Rodrigues L, Pimenta JR and Bydlowski SP (2009). DNA tests probe the genomic ancestry of Brazilians. Braz. J. Med. Biol. Res. 42: 870-876.
http://dx.doi.org/10.1590/S0100-879X2009005000026
PMid:19738982
Phillips C, Fondevila M, Garcia-Magarinos M, Rodriguez A, et al. (2008). Resolving relationship tests that show ambiguous STR results using autosomal SNPs as supplementary markers. Forensic Sci. Int. Genet. 2: 198-204.
http://dx.doi.org/10.1016/j.fsigen.2008.02.002
PMid:19083821
Saitou N and Ueda S (1994). Evolutionary rates of insertion and deletion in noncoding nucleotide sequences of primates. Mol. Biol. Evol. 11: 504-512.
PMid:8015443
Weber JL, David D, Heil J, Fan Y, et al. (2002). Human diallelic insertion/deletion polymorphisms. Am. J. Hum. Genet. 71: 854-862.
http://dx.doi.org/10.1086/342727
PMid:12205564 PMCid:378541
“Worldwide diversity of the Y-chromosome tetra-local microsatellite DYS464”, vol. 9, pp. 1525-1534, 2010.
, Berger B, Niederstatter H, Brandstatter A and Parson W (2003). Molecular characterization and Austrian Caucasian population data of the multi-copy Y-chromosomal STR DYS464. Forensic Sci. Int. 137: 221-230.
http://dx.doi.org/10.1016/j.forsciint.2003.07.002
PMid:14609661
Butler JM and Schoske R (2005). U.S. population data for the multi-copy Y-STR locus DYS464. J. Forensic Sci. 50: 975-977.
http://dx.doi.org/10.1520/JFS2005100
PMid:16078519
Cann HM, de Toma C, Cazes L, Legrand MF, et al. (2002). A human genome diversity cell line panel. Science 296: 261-262.
http://dx.doi.org/10.1126/science.296.5566.261b
PMid:11954565
Carvalho-Silva DR, Santos FR, Rocha J and Pena SD (2001). The phylogeography of Brazilian Y-chromosome lineages. Am. J. Hum. Genet. 68: 281-286.
http://dx.doi.org/10.1086/316931
PMid:11090340 PMCid:1234928
Carvalho-Silva DR, Tarazona-Santos E, Rocha J, Pena SD, et al. (2006). Y-chromosome diversity in Brazilians: switching perspectives from slow to fast evolving markers. Genetica 126: 251-260.
http://dx.doi.org/10.1007/s10709-005-1454-z
PMid:16502101
Chiaroni J, Underhill PA and Cavalli-Sforza LL (2009). Y-chromosome diversity, human expansion, drift, and cultural evolution. Proc. Natl. Acad. Sci. U. S. A. 106: 20174-20179.
http://dx.doi.org/10.1073/pnas.0910803106
PMid:19920170 PMCid:2787129
Gusmão L, Butler JM, Carracedo A, Gill P, et al. (2006). DNA Commission of the International Society of Forensic Genetics (ISFG): an update of the recommendations on the use of Y-STRs in forensic analysis. Int. J. Legal Med. 120: 191-200.
http://dx.doi.org/10.1007/s00414-005-0026-1
PMid:16998969
Hanson EK and Ballantyne J (2006). Comprehensive annotated STR physical map of the human Y-chromosome: Forensic implications. Leg. Med. 8: 110-120.
http://dx.doi.org/10.1016/j.legalmed.2005.10.001
PMid:16337821
Jobling MA and Tyler-Smith C (2003). The human Y-chromosome: an evolutionary marker comes of age. Nat. Rev. Genet. 4: 598-612.
http://dx.doi.org/10.1038/nrg1124
PMid:12897772
Kayser M, Krawczak M, Excoffier L, Dieltjes P, et al. (2001). An extensive analysis of Y-chromosomal microsatellite haplotypes in globally dispersed human populations. Am. J. Hum. Genet. 68: 990-1018.
http://dx.doi.org/10.1086/319510
PMid:11254455 PMCid:1275652
Khar'kov VN, Stepanov VA, Medvedev OF, Spiridonova MG, et al. (2008). The origin of Yakuts: analysis of Y-chromosome haplotypes. Mol. Biol. 42: 226-237.
Kuroda-Kawaguchi T, Skaletsky H, Brown LG, Minx PJ, et al. (2001). The AZFc region of the Y-chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat. Genet. 29: 279-286.
http://dx.doi.org/10.1038/ng757
PMid:11687796
Pakendorf B, Morar B, Tarskaia LA, Kayser M, et al. (2002). Y-chromosomal evidence for a strong reduction in male population size of Yakuts. Hum. Genet. 110: 198-200.
http://dx.doi.org/10.1007/s00439-001-0664-4
PMid:11935328
Pena SDJ (2007). The Evolution and Structure of Human Genetic Diversity. In: Pharmacogenomics in Admixed Populations (Suarez-Kurtz G, ed.). Landes Bioscience, Austin, 1-11. Available at [http://www.eurekah.com/chapter/3190]. Accessed… Perez-Lezaun A, Calafell F, Mateu E, Comas D, et al. (1997). Microsatellite variation and the differentiation of modern humans. Hum. Genet. 99: 1-7.
Redd AJ, Agellon AB, Kearney VA, Contreras VA, et al. (2002). Forensic value of 14 novel STRs on the human Y-chromosome. Forensic Sci. Int. 130: 97-111.
http://dx.doi.org/10.1016/S0379-0738(02)00347-X
Rozen S, Skaletsky H, Marszalek JD, Minx PJ, et al. (2003). Abundant gene conversion between arms of palindromes in human and ape Y-chromosomes. Nature 423: 873-876.
http://dx.doi.org/10.1038/nature01723
PMid:12815433
Santos FR, Epplen JT and Pena SDJ (2003). Testing Deficiency Paternity Cases With an Y-linked Tetranucleotide Repeat Polymorphism. In: DNA Fingerprinting: State of the Science (Pena SDJ, Chakraborty R, Epplen JT and Jeffreys AJ, eds.). Birkhäuser Verlag, Basel, 261-266.
PMid:12740014
Schneider S, Roessli D and Excoffier L (2000). Arlequin Ver 2.000: A Software for Population Genetics Data Analysis. Genetics and Biometry Laboratory, University of Geneva, Switzerland.
Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, et al. (2003). The male-specific region of the human Y-chromosome is a mosaic of discrete sequence classes. Nature 423: 825-837.
http://dx.doi.org/10.1038/nature01722
PMid:12815422
Torroni A, Achilli A, Macaulay V, Richards M, et al. (2006). Harvesting the fruit of the human mtDNA tree. Trends Genet. 22: 339-345.
http://dx.doi.org/10.1016/j.tig.2006.04.001
PMid:16678300
Wilder JA, Kingan SB, Mobasher Z, Pilkington MM, et al. (2004). Global patterns of human mitochondrial DNA and Y-chromosome structure are not influenced by higher migration rates of females versus males. Nat. Genet. 36: 1122-1125.
http://dx.doi.org/10.1038/ng1428
PMid:15378061
Yu N, Chen FC, Ota S, Jorde LB, et al. (2002). Larger genetic differences within Africans than between Africans and Eurasians. Genetics 161: 269-274.
PMid:12019240 PMCid:1462113
“Isolation and characterization of HC1: a novel human DNA repair gene”, vol. 8, pp. 247-260, 2009.
, “PedExpert: a computer program for the application of Bayesian networks to human paternity testing”, vol. 8, pp. 273-283, 2009.
, “Analysis of DNA polymerase activity in vitro using non-radioactive primer extension assay in an automated DNA sequencer”, vol. 6, pp. 250-255, 2007.
, “Sex-biased gene flow in African Americans but not in American Caucasians”, vol. 6, pp. 256-261, 2007.
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