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Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients.

• Authors : Gomes ME; Laboratório de Biologia Molecular/Medicina Genômica, Centro de Genética Médica Dr. José Carlos Cabral de Almeida & Serviço de Referência para Doenças Raras - Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF) - FIOCRUZ, Rio de Janeiro, Brazil. .; Kehdy F

Subjects: Founder Effect* ; Hirschsprung Disease*/Hirschsprung Disease*/Hirschsprung Disease*/genetics ; Osteochondrodysplasias*/Osteochondrodysplasias*/Osteochondrodysplasias*/genetics Cartilage-hair hypoplasia

• Source: Scientific reports [Sci Rep] 2024 Jun 11; Vol. 14 (1), pp. 13436. Date of Electronic Publication: 2024 Jun 11.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Founder effect of the 669insA mutation in BSCL2 gene causing Berardinelli-Seip congenital lipodystrophy in a cluster from Brazil.

• Authors : Gomes KB; Faculdade de Farmácia, Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil.; Pardini VC

Subjects: Founder Effect* ; Mutation*; GTP-Binding Protein gamma Subunits/GTP-Binding Protein gamma Subunits/GTP-Binding Protein gamma Subunits/*genetics

• Source: Annals of human genetics [Ann Hum Genet] 2007 Nov; Vol. 71 (Pt 6), pp. 729-34. Date of Electronic Publication: 2007 May 29.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0416661 Publication Model: Print-Electronic Cited Medium: Print ISSN:

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HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report.

• Authors : de Aguiar Coelho Silva Madeiro B; Oswaldo Cruz University Hospital, Universidade de Pernambuco, Recife, Brazil.; Peeters K

Subjects: Founder Effect* ; Mutation*; Isaacs Syndrome/Isaacs Syndrome/Isaacs Syndrome/*diagnosis

• Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Oct; Vol. 9 (10), pp. e1783. Date of Electronic Publication: 2021 Sep 25.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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So Close, So Far Away: Analysis of Surnames in a Town of Twins (Cândido Godói, Brazil).

• Authors : De Oliveira, Marcelo Zagonel^1,2; Schüler‐Faccini, Lavínia^1,2; Demarchi, Dario A.³

• Source: Annals of Human Genetics. Mar2013, Vol. 77 Issue 2, p125-136. 12p.

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Ancestry of the Brazilian TP53 c.1010G>A (p.Arg337His, R337H) Founder Mutation: Clues from Haplotyping of Short Tandem Repeats on Chromosome 17p.

• Authors : Paskulin DD; Post-Graduate Program, Genetics and Molecular Biology, Federal University of Rio Grande do Sul, Porto Alegre, Brazil.; Genomic Medicine Laboratory, Experimental Research Center, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil.

Subjects: Founder Effect* ; Microsatellite Repeats* ; Mutation, Missense*

• Source: PloS one [PLoS One] 2015 Nov 30; Vol. 10 (11), pp. e0143262. Date of Electronic Publication: 2015 Nov 30 (Print Publication: 2015).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet

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Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10).

• Authors : Almeida T; UnIGENe, Instituto de Biologia Molecular e Celular, Universidade do Porto, Porto, Portugal.; Alonso I

Subjects: DNA Repeat Expansion* ; Founder Effect*; Nerve Tissue Proteins/Nerve Tissue Proteins/Nerve Tissue Proteins/*genetics

• Source: PloS one [PLoS One] 2009; Vol. 4 (2), pp. e4553. Date of Electronic Publication: 2009 Feb 23.Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: Print-Electronic Cited Medium: Internet

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Genetic relatedness of Plasmodium falciparum isolates and the origin of allelic diversity at the merozoite surface protein-1 (MSP-1) locus in Brazil and Vietnam.

• Authors : Hoffmann EH; Departamento de Parasitologia, Instituto de Ciências Biomédicas da Universidade de São Paulo, Brazil. ; Ribolla PE

Subjects: Alleles* ; Founder Effect* ; Genetic Markers*

• Source: Malaria journal [Malar J] 2003 Jul 23; Vol. 2, pp. 24. Date of Electronic Publication: 2003 Jul 23.Publisher: BioMed Central Country of Publication: England NLM ID: 101139802 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Is Hepatitis Delta infections important in Brazil?

• Authors : Ferreira Cicero, Maira¹; Mantovani Pena, Nathalia¹; Santana, Luiz Claudio¹

• Source: BMC Infectious Diseases. 9/29/2016, Vol. 16, p1-10. 10p. 1 Diagram, 3 Charts, 2 Graphs.

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The Brazilian TP53 mutation (R337H) and sarcomas.

• Authors : Volc SM; Oncogenetics Department, Barretos Cancer Hospital, Barretos, São Paulo, Brazil.; Ramos CRN

Subjects: Genetic Predisposition to Disease*; Li-Fraumeni Syndrome/Li-Fraumeni Syndrome/Li-Fraumeni Syndrome/*genetics ; Sarcoma/Sarcoma/Sarcoma/*genetics

• Source: PloS one [PLoS One] 2020 Jan 24; Vol. 15 (1), pp. e0227260. Date of Electronic Publication: 2020 Jan 24 (Print Publication: 2020).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet

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Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil.

• Authors : Manzoli GN; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, 33136, USA.; Gonçalo Moniz Research Center (CPqGM), Oswaldo Cruz Foundation (FIOCRUZ), Salvador, Bahia, Brazil.

Subjects: Hearing Loss/Hearing Loss/Hearing Loss/*genetics ; Myosins/Myosins/Myosins/*genetics; Brazil

• Source: Annals of human genetics [Ann Hum Genet] 2016 Nov; Vol. 80 (6), pp. 327-331.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0416661 Publication Model: Print Cited Medium: Internet ISSN: 1469-1809

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