Publications by authors named "Sergio D J Pena"

73Publications

Genetic admixture in Brazil.

Am J Med Genet C Semin Med Genet 2020 Nov 18. Epub 2020 Nov 18.

Departamento de Genética, Ecologia e Evolução, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.

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http://dx.doi.org/10.1002/ajmg.c.31853DOI Listing
November 2020

Nephrotic syndrome and adrenal insufficiency caused by a variant in .

Clin Kidney J 2018 Aug 13;11(4):462-467. Epub 2017 Nov 13.

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

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http://dx.doi.org/10.1093/ckj/sfx130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6070023PMC
August 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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http://dx.doi.org/10.1371/journal.pcbi.1005520DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5464533PMC
June 2017

"Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis (Linhares et al., 2014)" turns out to be EBV+ leiomyomatosis caused by CARMIL2 mutations.

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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http://dx.doi.org/10.1016/j.ejmg.2017.02.002DOI Listing
February 2018

Effect of ionizing radiation exposure on Trypanosoma cruzi ubiquitin-proteasome system.

Mol Biochem Parasitol 2017 03 27;212:55-67. Epub 2017 Jan 27.

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

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http://dx.doi.org/10.1016/j.molbiopara.2017.01.005DOI Listing
March 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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http://dx.doi.org/10.1186/s13023-016-0458-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4901491PMC
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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http://dx.doi.org/10.1111/epi.13250DOI Listing
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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http://dx.doi.org/10.1016/j.ejmg.2014.08.010DOI Listing
July 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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http://dx.doi.org/10.1038/jhg.2013.73DOI Listing
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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http://dx.doi.org/10.1159/000338854DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3375136PMC
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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http://dx.doi.org/10.2217/pgs.12.39DOI Listing
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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http://dx.doi.org/10.1002/humu.21584DOI Listing
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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http://dx.doi.org/10.1590/s0074-02762010000600018DOI Listing
September 2010

Color, race, and genomic ancestry in Brazil: dialogues between anthropology and genetics.

Curr Anthropol 2009 Dec;50(6):787-819

National Museum, Federal University of Rio de Janeiro, Brazil.

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http://dx.doi.org/10.1086/644532DOI Listing
December 2009

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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http://dx.doi.org/10.1371/journal.pntd.0000547DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2770324PMC
November 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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http://dx.doi.org/10.1590/s0074-02762009000900016DOI Listing
July 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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http://dx.doi.org/10.1016/j.gene.2007.12.021DOI Listing
March 2008

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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http://dx.doi.org/10.2217/14622416.8.10.1299DOI Listing
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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http://dx.doi.org/10.1097/FPC.0b013e3281c10e52DOI Listing
September 2007

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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https://www.karger.com/Article/FullText/106059
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http://dx.doi.org/10.1159/000106059DOI Listing
November 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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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0000557PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1891433PMC
June 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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http://dx.doi.org/10.1016/j.exppara.2007.02.012DOI Listing
August 2007

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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http://dx.doi.org/10.1590/s0074-02762006000900051DOI Listing
September 2006

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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https://www.karger.com/Article/FullText/96872
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http://dx.doi.org/10.1159/000096872DOI Listing
March 2007

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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http://dx.doi.org/10.1111/j.1469-1809.2006.00287.xDOI Listing
September 2006

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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http://dx.doi.org/10.1111/j.1469-1809.2006.00287.xDOI Listing
September 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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http://dx.doi.org/10.1007/s10709-005-1454-zDOI Listing
January 2006

Phylogeography of haplotypes of five microsatellites located in a low-recombination region of the X chromosome: studies worldwide and in Brazilian populations.

Genetica 2006 Jan;126(1-2):243-50

Laboratório de Genética Bioquímica, ICB, UFMG, Belo Horizonte, MG, Brazil.

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http://dx.doi.org/10.1007/s10709-005-1453-0DOI Listing
January 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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http://dx.doi.org/10.1590/s0104-59702005000200006DOI Listing
August 2006

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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http://dx.doi.org/10.1353/hub.2005.0032DOI Listing
February 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

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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http://dx.doi.org/10.1128/JB.187.16.5568-5577.2005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1196056PMC
August 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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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1501152PMC
http://dx.doi.org/10.1593/neo.04502DOI Listing
April 2005

Development and application of a multiplex PCR procedure for the detection of DNA methylation in colorectal cancer.

Oncol Rep 2005 Feb;13(2):325-8

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

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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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http://dx.doi.org/10.1590/s0074-02762004000100001DOI Listing
February 2004

Fetal diagnosis of monosomy X (Turner syndrome) with methylation-specific PCR.

Prenat Diagn 2003 Sep;23(9):769-70

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http://dx.doi.org/10.1002/pd.675DOI Listing
September 2003

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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http://dx.doi.org/10.1002/sim.1387DOI Listing
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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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1462559PMC
May 2003

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

J Med Microbiol 2003 Feb;52(Pt 2):127-135

Departamento de Microbiologia1, Departamento de Morfologia2 and Departamento de Bioquímica e Imunologia3, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Av. Antônio Carlos, 6627, CP 486, CEP: 31270-901, Belo Horizonte, Minas Gerais, Brazil 4Laboratory of Cancer Genetics, Ludwig Institute for Cancer Research, São Paulo, Brazil 5Department of Biomedical Research, Royal Tropical Institute, Amsterdam, The Netherlands 6Centro de Pesquisas 'René Rachou' - FIOCRUZ, Belo Horizonte, Minas Gerais, Brazil.

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http://dx.doi.org/10.1099/jmm.0.04923-0DOI Listing
February 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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http://www.pnas.org/cgi/doi/10.1073/pnas.0126614100
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http://dx.doi.org/10.1073/pnas.0126614100DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC140919PMC
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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http://dx.doi.org/10.1002/humu.10153DOI Listing
January 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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http://doi.wiley.com/10.1002/ajmg.a.10827
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http://dx.doi.org/10.1002/ajmg.a.10827DOI Listing
January 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

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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http://dx.doi.org/10.1590/s0074-02762002000900014DOI Listing
February 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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http://dx.doi.org/10.1016/s0014-4894(02)00024-3DOI Listing
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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http://dx.doi.org/10.1016/s0027-5107(01)00275-5DOI Listing
February 2002