Now showing items 31-40 of 252
Estudo de pacientes com fissuras lábio-palatinas com pais consanguíneosStudy of patients with cleft lip and palate with consanguineous parents
(Associação Brasileira de Otorrinolaringologia e Cirurgia Cervicofacial, 2011)
A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family a rural isolate
Complete achromatopsia is genetically heterogeneous and segregates with mutations in CNGA3 or CNGB3 genes, which respectively encode for α- and β-subunits of the cyclic-nucleotide-gated (CNG) cation channel expressed in ...
Consanguineous unions and the burden of disability: A population-based study in communities of Northeastern Brazil
Objectives: The aim of this study was to identify communities at high risk of transmitting recessive genetic disorders by measuring levels of endogamy and offspring's rate of disabilities. Methods: In a house-to-house ...
Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes
(BMJ Publishing Group, 2012)
OBJECTIVE: To investigate the utility of autozygome analysis and exome sequencing in a cohort of patients with suspected or confirmed mitochondrial encephalomyopathy. METHODS: Autozygome was used to highlight candidate ...
Random inbreeding, isonymy, and population isolates in Argentina
(Springer Verlag Berlín, 2014-02)
Population isolates are an important tool in identi-fying and mapping genes of Mendelian diseases and complextraits. The geographical identification of isolates represents apriority from a genetic and health care standpoint. ...
Gillespie syndrome: Additional findings and parental consanguinity
(Taylor & Francis IncPhiladelphiaEUA, 2007)
Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness
(NATURE PUBLISHING GROUP, 2008)
Nonsyndromic autosomal recessive deafness accounts for 80% of hereditary deafness. To date, 52 loci responsible for autosomal recessive deafness have been mapped and 24 genes identified. Here, we report a large inbred ...
APOA5 Q97X Mutation Identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family
Abstract Background Severe hypertriglyceridemia (HTG) has been linked to defects in LPL, APOC2, APOA5, LMF1 and GBIHBP1 genes. However, a number of severe HTG cases are probably ...