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Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia
(2020)
Abstract
Background
The BRCA1 c.3331_3334delCAAG founder mutation has been reported in hereditary breast and ovarian cancer families from multiple Hispanic groups. We aimed to evaluate BRCA1 c.3331_3334delCAAG haplotype ...
Consanguinity and founder effect for Gaucher disease mutation G377S in a population from Tabuleiro do Norte, Northeastern Brazil
(John Wiley & Sons LtdMalden, 2014-11-08)
Gaucher’s disease (GD) is caused by a β-glucocerebrosidase deficiency,
leading to the accumulation of glucocerebroside in the reticuloendothelial
system. The prevalence of GD in Tabuleiro do Norte (TN) (1:4000) is ...
Prevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breast Cancer Patients
(Scientific Reports, 2017-07-05)
Pathogenic BRCA1/2 germline mutations confer high risks of breast and ovarian cancer to women of European ancestry. Characterization of BRCA1/2 mutations in other ethnic groups is also medically important. We comprehensively ...
GH-Releasing Hormone Receptor Gene: A Novel Splice-Disrupting Mutation and Study of Founder Effects
(KARGERBASEL, 2012)
Background: Mutations in GH-releasing hormone receptor gene (GHRHR) are emerging as the most common cause of autosomal recessive isolated GH deficiency (IGHD). Objective: To search for GHRHR mutations in patients with ...
Prevalence and impact of founder mutations in hereditary breast cancer in Latin America
(Sociedade Brasileira de Genética, 2015)
Mutational spectrum in breast cancer associated BRCA1 and BRCA2 genes in Colombia
(Colombia Médica, 2017-06-02)
Introduction: The risk of developing breast and ovarian cancer is higher in families that carry mutations in BRCA1 or BRCA2 genes, and timely mutation detection is critical.Objective: To identify the presence of ...
BRCA1 and BRCA2 mutations other than the founder alleles among Ashkenazi Jewish in the population of Argentina
(Frontiers Media SA, 2018-08)
In Ashkenazi Jewish (AJ) high risk families 3 mutations [2 in BRCA1 (c. 68_69del and c.5266dup) and 1 in BRCA2 (c.5946del)] account for the majority of high risk breast and ovarian cancer cases in that ethnic group. Few ...
Haplotype Study in Argentinean Variegate Porphyria Patients
(Karger, 2016-07)
Background/Aims: The porphyrias are genetically heterogeneous diseases, and each mutation is exclusive to one or two families. Among the mutations responsible for variegate porphyria in our country, c.1042-1043insT stands ...
Five new cases of 46, XX aromatase deficiency: Clinical follow-up from birth to puberty, a novel mutation, and a founder effect
(Endocrine Society, 2015-02)
Context: Aromatase is the key enzyme for estrogen biosynthesis and is encoded by the CYP19A1 gene. Since 1991, several molecular CYP19A1 gene alterations associated with aromatase deficiency have been described in both ...