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Gene Mutations in Esophageal Mucosa of Chagas Disease Patients
(Int Inst Anticancer Research, 2009-04-01)
Background: Chagas disease patients with longstanding megaesophagus have a significantly increased risk for esophageal carcinoma. Materials and Methods: PCR-SSCP analysis and DNA sequencing of esophageal mucosa from Chagas ...
Gene Mutations in Esophageal Mucosa of Chagas Disease Patients
(Int Inst Anticancer Research, 2014)
The frequency of 844ins68 mutation in the cystathionine β-synthase gene is not increased in patients with venous thrombosis
(1998-11-01)
Background and Objectives. A frequent mutation in the cystathionine β- synthase (CBS) gene (844ins68, a 68-bp insertion in the coding region of exon 8) was recently discovered. In the present study we investigated this ...
Molecular analysis of the eighteen most frequent mutations in the BRCA1 gene in 63 Chilean breast cancer families
(Sociedad de Biología de Chile, 2004)
Analysis of HFE and non-HFE gene mutations in Brazilian patients with hemochromatosis
(Faculdade de Medicina / USP, 2009)
BACKGROUND: Approximately one-half of Brazilian patients with hereditary hemochromatosis (HH) are neither homozygous for the C282Y mutation nor compound heterozygous for the H63D and C282Y mutations that are associated ...
Prevalence of the GJB2 mutations and the del(GJB6-D13S1830) mutation in Brazilian patients with deafness
(Elsevier Science BvAmsterdamHolanda, 2004)
Novel mutations in the TBX5 gene in patients with Holt-Oram Syndrome
(Sociedade Brasileira de Genética, 2010-01-01)
The Holt-Oram syndrome (HOS) is an autosomal dominant condition characterized by upper limb and cardiac malformations. Mutations in the TBX5 gene cause HOS and have also been associated with isolated heart and arm defects. ...
A new FOXL2 gene mutation in a woman with premature ovarian failure and sporadic blepharophimosis-ptosis-epicanthus inversus syndrome
(ELSEVIER SCIENCE INC, 2010)
Objective: To describe a new FOXL2 gene mutation in a woman with sporadic blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and hypergonadotropic hypogonadism. Design: Case report. Setting: University medical ...