Sergio D J Pena

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Sergio D J Pena

Publications by authors named "Sergio D J Pena"

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69Publications

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"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.

Eur J Med Genet 2018 02 20;61(2):106. Epub 2017 Feb 20.

Laboratório de Genômica Clínica, Faculdade de Medicina, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil; Departamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil; Laboratório Gene - Núcleo de Genética Médica, Belo Horizonte, Brazil. Electronic address:

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February 2018

Mendel,MD: A user-friendly open-source web tool for analyzing WES and WGS in the diagnosis of patients with Mendelian disorders.

PLoS Comput Biol 2017 Jun 8;13(6):e1005520. Epub 2017 Jun 8.

Laboratório de Genômica Clínica, Faculdade de Medicina da UFMG, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.

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June 2017

Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism.

Orphanet J Rare Dis 2016 06 10;11(1):76. Epub 2016 Jun 10.

Laboratório de Genômica Clínica da Faculdade de Medicina and Departamento de Bioquímica e Imunologia, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil.

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June 2016

Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.

Epilepsia 2016 Jan 9;57(1):e12-7. Epub 2015 Dec 9.

Department of Paediatric Neurology and Clinical Neurophysiology, Children's University Hospital, Dublin, Ireland.

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January 2016

Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis.

Eur J Med Genet 2014 Nov-Dec;57(11-12):643-8. Epub 2014 Sep 18.

Laboratório de Genômica Clínica, Faculdade de Medicina, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil; Departamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil; Laboratório Gene - Núcleo de Genética Médica, Belo Horizonte, Brazil. Electronic address:

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July 2015

Distribution of CYP2D6 alleles and phenotypes in the Brazilian population.

PLoS One 2014 20;9(10):e110691. Epub 2014 Oct 20.

Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.

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June 2015

Tracing the genomic ancestry of Peruvians reveals a major legacy of pre-Columbian ancestors.

J Hum Genet 2013 Sep 18;58(9):627-34. Epub 2013 Jul 18.

1] Laboratório de Biodiversidade e Evolução Molecular (LBEM), Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, Brazil [2] Centro de Genética y Biología Molecular (CGBM), Facultad de Medicina Humana, Universidad de San Martin de Porres (USPM), Lima, Peru.

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September 2013

Automated Genotyping of a Highly Informative Panel of 40 Short Insertion-Deletion Polymorphisms Resolved in Polyacrylamide Gels for Forensic Identification and Kinship Analysis.

Transfus Med Hemother 2012 Jun 11;39(3):211-216. Epub 2012 May 11.

GENE - Núcleo de Genética Médica, Belo Horizonte, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.

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June 2012

Application of the F(ST) statistics to explore pharmacogenomic diversity in the Brazilian population.

Pharmacogenomics 2012 May;13(7):771-7

Divisão de Bioquímica e Imunologia, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil.

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May 2012

Estimating the degree of identity by descent in consanguineous couples.

Hum Mutat 2011 Dec 23;32(12):1350-8. Epub 2011 Sep 23.

School of Medicine, University of Leeds, UK.

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December 2011

Differential tissue tropism of Trypanosoma cruzi strains: an in vitro study.

Mem Inst Oswaldo Cruz 2010 Sep;105(6):834-7

Departamento de Morfologia, Universidade Federal de Minas Gerais, Av. Antônio Carlos 6627, Belo Horizonte, MG, Brazil.

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September 2010

Molecular characterization of the Schistosoma mansoni zinc finger protein SmZF1 as a transcription factor.

PLoS Negl Trop Dis 2009 Nov 10;3(11):e547. Epub 2009 Nov 10.

Laboratório de Genética Bioquímica, Departamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil.

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November 2009

Virus-host coevolution: common patterns of nucleotide motif usage in Flaviviridae and their hosts.

PLoS One 2009 Jul 20;4(7):e6282. Epub 2009 Jul 20.

Departamento de Bioquímica e Imunologia, Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil.

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July 2009

Trypanosoma cruzi: ancestral genomes and population structure.

Mem Inst Oswaldo Cruz 2009 Jul;104 Suppl 1:108-14

Departamento de Bioquímica e Imunologia, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brasil.

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July 2009

The MHC gene region of murine hosts influences the differential tissue tropism of infecting Trypanosoma cruzi strains.

PLoS One 2009 1;4(4):e5113. Epub 2009 Apr 1.

Departamento de Bioquímica e Imunologia, Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil.

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June 2009

Mismatch repair in Trypanosoma brucei: heterologous expression of MSH2 from Trypanosoma cruzi provides new insights into the response to oxidative damage.

Gene 2008 Mar 2;411(1-2):19-26. Epub 2008 Jan 2.

Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Departamento de Bioquímica e Imunologia, Belo Horizonte, Brazil.

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March 2008

The phylogeography of African Brazilians.

Hum Hered 2008 25;65(1):23-32. Epub 2007 Jul 25.

Departamento de Bioquímica e Imunologia, Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil.

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November 2007

Impact of population admixture on the distribution of the CYP3A5*3 polymorphism.

Pharmacogenomics 2007 Oct;8(10):1299-306

Instituto Nacional de Câncer, Divisão de Farmacologia, Instituto Nacional de Câncer, Rua André Cavalcanti 37, Rio de Janeiro 21230-050, Brazil.

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October 2007

Self-reported skin color, genomic ancestry and the distribution of GST polymorphisms.

Pharmacogenet Genomics 2007 Sep;17(9):765-71

Pharmacology Division, Instituto Nacional de Câncer, Fundação Oswaldo Cruz, Rio de Janeiro, Brazil.

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September 2007

Schistosoma mansoni: Heterologous complementation of a yeast null mutant by SmRbx, a protein similar to a RING box protein involved in ubiquitination.

Exp Parasitol 2007 Aug 2;116(4):440-9. Epub 2007 Mar 2.

Departamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Av. Antônio Carlos 6627, Pampulha, Belo Horizonte, MG 31270-901, Brazil.

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August 2007

A worldwide phylogeography for the human X chromosome.

PLoS One 2007 Jun 27;2(6):e557. Epub 2007 Jun 27.

Departamento de Bioquímica e Imunologia, Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil.

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June 2007

Color and genomic ancestry in Brazilians: a study with forensic microsatellites.

Hum Hered 2006 10;62(4):190-5. Epub 2006 Nov 10.

GENE - Núcleo de Genética Médica, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.

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March 2007

The genetic structure of human populations studied through short insertion-deletion polymorphisms.

Ann Hum Genet 2006 Sep;70(Pt 5):658-65

Departamento de Bioquímica e Imunologia, Universidade Federal de Minas Gerais, 31270-910 Belo Horizonte, Brazil.

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September 2006

The Genetic Structure of Human Populations Studied Through Short Insertion-Deletion Polymorphisms.

Ann Hum Genet 2006 Sep 29;70(5):658-665. Epub 2006 Mar 29.

Departamento de Bioquímica e Imunologia, Universidade Federal de Minas Gerais, 31270-910 Belo Horizonte, BrazilGENE - Núcleo de Genética Médica, 30130-909 Belo Horizonte, MG.

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September 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.

Mem Inst Oswaldo Cruz 2006 Sep;101 Suppl 1:323-6

Laboratório de Genética Bioquímica, Departamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Av. Antônio Carlos 6627, 31270-901 Belo Horizonte, MG, Brazil.

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September 2006

[Reasons for banishing the concept of race from Brazilian medicine].

Authors:
Sérgio D J Pena

Hist Cienc Saude Manguinhos 2005 May-Aug;12(2):321-46

Departamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas Universidade Federal de Minas Gerais.

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August 2006

No association found between gr/gr deletions and infertility in Brazilian males.

Mol Hum Reprod 2006 Apr 5;12(4):269-73. Epub 2006 Apr 5.

Departamento de Bioquímica e Imunologia, Belo Horizonte, Minas Gerais, Brazil.

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April 2006

Y chromosome diversity in Brazilians: switching perspectives from slow to fast evolving markers.

Genetica 2006 Jan;126(1-2):251-60

Departamento de Bioquímica e Imunologia, Universidade Federal de Minas Gerais, Av. Afonso Pena 3111/9, 30130-909, Belo Horizonte, Brazil.

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January 2006

Swine and poultry pathogens: the complete genome sequences of two strains of Mycoplasma hyopneumoniae and a strain of Mycoplasma synoviae.

Authors:
Ana Tereza R Vasconcelos Henrique B Ferreira Cristiano V Bizarro Sandro L Bonatto Marcos O Carvalho Paulo M Pinto Darcy F Almeida Luiz G P Almeida Rosana Almeida Leonardo Alves-Filho Enedina N Assunção Vasco A C Azevedo Maurício R Bogo Marcelo M Brigido Marcelo Brocchi Helio A Burity Anamaria A Camargo Sandro S Camargo Marta S Carepo Dirce M Carraro Júlio C de Mattos Cascardo Luiza A Castro Gisele Cavalcanti Gustavo Chemale Rosane G Collevatti Cristina W Cunha Bruno Dallagiovanna Bibiana P Dambrós Odir A Dellagostin Clarissa Falcão Fabiana Fantinatti-Garboggini Maria S S Felipe Laurimar Fiorentin Gloria R Franco Nara S A Freitas Diego Frías Thalles B Grangeiro Edmundo C Grisard Claudia T Guimarães Mariangela Hungria Sílvia N Jardim Marco A Krieger Jomar P Laurino Lucymara F A Lima Maryellen I Lopes Elgion L S Loreto Humberto M F Madeira Gilson P Manfio Andrea Q Maranhão Christyanne T Martinkovics Sílvia R B Medeiros Miguel A M Moreira Márcia Neiva Cicero E Ramalho-Neto Marisa F Nicolás Sergio C Oliveira Roger F C Paixão Fábio O Pedrosa Sérgio D J Pena Maristela Pereira Lilian Pereira-Ferrari Itamar Piffer Luciano S Pinto Deise P Potrich Anna C M Salim Fabrício R Santos Renata Schmitt Maria P C Schneider Augusto Schrank Irene S Schrank Adriana F Schuck Hector N Seuanez Denise W Silva Rosane Silva Sérgio C Silva Célia M A Soares Kelly R L Souza Rangel C Souza Charley C Staats Maria B R Steffens Santuza M R Teixeira Turan P Urmenyi Marilene H Vainstein Luciana W Zuccherato Andrew J G Simpson Arnaldo Zaha

J Bacteriol 2005 Aug;187(16):5568-77

Centro de Biotecnologia, Universidade Federal do Rio Grande do Sul, Avenida Bento Gonçalves 9500, Prédio 43421, Porto Alegre, RS, Brazil.

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August 2005

Optimization of a multiplex minisequencing protocol for population studies and medical genetics.

Genet Mol Res 2005 Jun 30;4(2):115-25. Epub 2005 Jun 30.

Departamento de Bioquímica e Imunologia, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil.

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June 2005

Colorectal cancer "methylator phenotype": fact or artifact?

Neoplasia 2005 Apr;7(4):331-5

Departamento de Bioquímica e Imunologia, Universidade Federal de Minas Gerais, Belo Horizonte, MG, 31270-910 Brazil.

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April 2005

Genetic variation of the Y chromosome in Chibcha-speaking Amerindians of Costa Rica and Panama.

Hum Biol 2005 Feb;77(1):71-91

Instituto de Investigaciones en Salud (INISA) and Escuela de Biología, Universidad de Costa Rica, San José, Costa Rica.

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February 2005

Trypanosoma cruzi: genetic structure of populations and relevance of genetic variability to the pathogenesis of chagas disease.

Mem Inst Oswaldo Cruz 2004 Feb 31;99(1):1-12. Epub 2004 Mar 31.

Departamento de Bioquímica e Imunologia, Universidade Federal de Minas Gerais, Belo Horizonte, MG, 30161-970, Brasil.

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February 2004

A probability model for the meiosis I non-disjunction fraction in numerical chromosomal anomalies.

Stat Med 2003 Jun;22(12):2015-24

Departamento de Estatística, ICEx, UFMG, Caixa Postal 702, Belo Horizonte, MG 31.270-901, Brazil.

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June 2003

Single-nucleotide polymorphisms of the Trypanosoma cruzi MSH2 gene support the existence of three phylogenetic lineages presenting differences in mismatch-repair efficiency.

Genetics 2003 May;164(1):117-26

Department of Biochemistry and Immunology, Universidade Federal de Minas Gerais, Caixa Postal 486, Belo Horizonte, Brazil.

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May 2003

Clustering of Schistosoma mansoni mRNA sequences and analysis of the most transcribed genes: implications in metabolism and biology of different developmental stages.

Mem Inst Oswaldo Cruz 2002 ;97 Suppl 1:61-9

Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, MG, 31270-901, Brasil.

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February 2003

Cloning and molecular characterization of the Schistosoma mansoni genes RbAp48 and histone H4.

Mem Inst Oswaldo Cruz 2002 ;97 Suppl 1:77-84

Laboratório de Genética Bioquimica, Departamento de Bioquímica e Imunologia, ICB, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.

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February 2003

Low-stringency single specific primer PCR for identification of Leptospira.

J Med Microbiol 2003 Feb;52(Pt 2):127-35

Departamento de Microbiologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Av. Antônio Carlos, 6627, CP 486, CEP: 31270-901, Belo Horizonte, Minas Gerais, Brazil.

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February 2003

Lack of association between Y chromosome haplogroups and male infertility in Japanese men.

Am J Med Genet A 2003 Jan;116A(2):152-8

Departamento de Biologia Geral, Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil.

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January 2003

The mutational spectrum of human autosomal tetranucleotide microsatellites.

Hum Mutat 2003 Jan;21(1):71-9

Departamento de Bioquímica e Imunologia, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.

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January 2003

Color and genomic ancestry in Brazilians.

Proc Natl Acad Sci U S A 2003 Jan 30;100(1):177-82. Epub 2002 Dec 30.

Departamento de Bioquimica e Imunologia, Universidade Federal de Minas Gerais, 31270-901 Belo Horizonte, Brazil.

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January 2003

Trypanosoma cruzi: role of host genetic background in the differential tissue distribution of parasite clonal populations.

Exp Parasitol 2002 Apr;100(4):269-75

Departamento de Bioquìmica e Imunologia, Universidade Federal de Minas Gerais, Belo Horizonte 31270-901 MG, Brazil.

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April 2002

Bracken fern-induced malignant tumors in rats: absence of mutations in p53, H-ras and K-ras and no microsatellite instability.

Mutat Res 2002 Feb;499(2):189-96

Departamento de Nutrição Clínica e Social, ENUT/UFOP, Morro do Cruzeiro, MG 35400-000, Ouro Preto, Brazil.

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February 2002