Incidence of cystic fibrosis in five different states of Brazil as determined by screening of p.F508del, mutation at the CFTR gene in newborns and patients

Salmo Raskin, Lilian Pereira‐Ferrari, F.C. Reis, +14

Journal of Cystic Fibrosis

FibrosisMendelian DisorderGenetic EpidemiologyPediatricsPathology +6

Diversity of the MBL2 Gene in Various Brazilian Populations and the Case of Selection at the Mannose-Binding Lectin Locus

Angelica Beate Winter Boldt, L. Culpi, Luiza Tamie Tsuneto, +3

Human Immunology

Allelic VariantMbl2 GeneMolecular EcologyGenome StudyComparative Genomics +12

HLA class I polymorphism, as characterised by PCR‐SSOP, in a Brazilian exogamic population

Karin Braun-Prado, A.L. Vieira Mion, Noemi F. Pereira, +2

Tissue Antigens

Geographic heterogeneity of 4 common worldwide cystic fibrosis non-DF508 mutations in Brazil.

Salmo Raskin, John A. Phillips, G Kaplan, +14

PubMed

Molecular Diagnostic TechniquesGenetic TestingMendelian DisorderGenetic DisorderCf Mutations +10

High Allelic Heterogeneity Between Afro-Brazilians and Euro-Brazilians Impacts Cystic Fibrosis Genetic Testing

Salmo Raskin, Lilian Pereira, Francisco J.C. Reis, +10

Genetic Testing

Genetic AnalysisAllelic VariantGenetic TestingMendelian DisorderGenetic Disorder +13

Cystic fibrosis in the Brazilian population: DF508 mutation and KM-19/XV-2C haplotype distribution.

Salmo Raskin, John A. Phillips, M.R.S. Krishnamani, +10

PubMed

GeneticsGenetic EpidemiologyPathologyGuthrie CardsGenomics +18

Cystic fibrosis in a southern Brazilian population: characteristics of 90% of the alleles

Juliette Gimenez, MD Ramos, Lilian Pereira‐Ferrari, +4

Clinical Genetics

Southern Brazilian PopulationMendelian DisorderGenetic DisorderMedicineGenetics +10

Regional distribution of cystic fibrosis-linked DNA haplotypes in Brazil: multicenter study.

Salmo Raskin, Jennifer A. Philips, M.R.S. Krishnamani, +12

PubMed

Genetic TestingGeneticsGenetic EpidemiologyHuman PolymorphismGenomics +15

Analysis of the CCR5 gene coding region diversity in five South American populations reveals two new non-synonymous alleles in Amerindians and high CCR5*D32 frequency in Euro-Brazilians

Angelica Beate Winter Boldt, L. Culpi, Luiza Tamie Tsuneto, +3

Genetics and Molecular Biology

New Non-synonymous AllelesRegion DiversityGeneticsGenetic EpidemiologyHuman Polymorphism +17

Frequencies of the butyrylcholinesterase K mutation in Brazilian populations of European and African origin.

Ricardo Lehtonen Rodrigues de Souza, Raul Manhães‐de‐Castro, Luciane Aparecida Pereira, +3

PubMed

BiologyButyrylcholinesterase K MutationAllelic VariantMolecular EcologyBrazilian Populations +13