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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 novel TBX5 missense mutation (V263M) in a family with atrial septal defects and postaxial hexodactyly
(ELSEVIER IRELAND LTD, 2008)
Background: Congenital heart diseases are the most frequent birth defects and are commonly associated with skeletal malformations. Mutations in the TBX5 gene, a T-box transcription factor located on chromosome 12q24.1, ...
Holt-Oram syndrome: novel TBX5 mutation and associated anomalous right coronary artery
(CAMBRIDGE UNIV PRESS, 2011)
The Holt-Oram syndrome was confirmed in an asymptomatic 36-year-old man by a novel TBX5-gene mutation (exon 8 acceptor splicing site, c.663-1G greater than A). Computed tomography showed an atrial septal defect and an ...
A genome-wide association study identifies multiple loci for variation in human ear morphology
(Nature Publishing, 2015)
Here we report a genome-wide association study for non-pathological pinna morphology in over 5,000 Latin Americans. We find genome-wide significant association at seven genomic regions affecting: lobe size and attachment, ...
Esquizofrenia e síndrome da deleção 22q11.2: Caracterização de genes relevantes
(Universidade Federal de São Paulo (UNIFESP), 2011-02-22)
Introdução: A esquizofrenia é o transtorno mental mais grave e incapacitante entre os distúrbios psiquiátricos. Ela é uma doença complexa e com fenótipo heterogêneo. Dentre os fatores genéticos que parecem ter um papel na ...
Contribution of polymorphisms in genes associated with craniofacial development to the risk of nonsyndromic cleft lip and/or palate in the Brazilian population
(Medicina Oral S LValenciaEspanha, 2013)
Defects in protein folding in congenital hypothyroidism
(Elsevier Ireland, 2019-11-18)
Primary congenital hypothyroidism (CH) is the most commonendocrine disease in children and one of the most common preventablecauses of both cognitive and motor deficits. CH is a heterogeneous groupof thyroid disorders in ...
Germline variants in driver genes of breast cancer and their association with familial and early-onset breast cancer risk in a chilean population
(MDPI, 2020)
The genetic variations responsible for tumorigenesis are called driver mutations. In breast cancer (BC), two studies have demonstrated that germline mutations in driver genes linked to sporadic tumors may also influence ...
Heritable genomic diversity in breast cancer driver genes and associations with risk in a chilean population
(BMC, 2022)
Background Driver mutations are the genetic components responsible for tumor initiation and progression. These variants, which may be inherited, influence cancer risk and therefore underlie many familial cancers. The present ...