Holt Oram Syndrome
Mostrando 1-11 de 11 artigos, teses e dissertações.
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1. Novel mutations in the TBX5 gene in patients with Holt-Oram Syndrome
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. Interactions between the TBX5, GATA4 and NKX2.5 proteins have been reported in humans. We screened the TBX5, GATA4, and NKX2.5 genes for
Genetics and Molecular Biology. Publicado em: 07/06/2010
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2. A síndrome de Holt-Oram revisitada: dois casos em uma mesma família / Holt-Oram syndrome revisited: two patients in the same family
Publicado em: 2010
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3. Dysrhythmias After Repair of Atrial Septal Defect
To determine the incidence of dysrhythmias following repair of isolated secundum atrial septal defect, postoperative electrocardiograms were reviewed in 292 patients. The PR interval was shortened by the 7th postoperative day (p < .05) as compared to the preoperative PR interval. Sinus rhythm only was observed in 228/292 (78%). Nine patients (3%) had a preop
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4. Familial skeletal cardiovascular syndrome (Holt-Oram) in a polygamous African family
A polygamous Nigerian family with inherited skeletal cardiovascular anomalies (Holt-Oram syndrome) is described. Common to the affected individuals in this family were pectus excavatum and abnormalities of the thumbs. Atrial septal defect was proven by angiocardiography in one and clinically diagnosed in another member of the family. The mode of inheritance
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5. The Holt-Oram syndrome.
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6. Holt-Oram syndrome: a clinical genetic study.
A clinical and genetic study of the Holt-Oram syndrome (HOS) has been carried out in the United Kingdom involving 55 cases designated Holt-Oram syndrome, together with their parents and sibs. Data from the clinical assessment of both familial and isolated cases were used to define the HOS phenotype and to outline the spectrum of abnormalities, especially fac
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7. Fracture of the Proximal Pole of the Bipartite Carpal Scaphoid: A Probable Holt–Oram-like Syndrome
Bipartite scaphoid has been debated, and is of a traumatic origin for some authors and congenital for others. The aim of study is to distinguish clinical, radiographic and MR criteria for the diagnosis of congenital bipartite scaphoid. I describe a case of a patient with bilateral bipartite scaphoid admitted at my clinic following a traumatic accident which
Springer-Verlag.
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8. Functional Role of Transcriptional Factor TBX5 in Pre-mRNA Splicing and Holt-Oram Syndrome via Association with SC35*
TBX5 is a T-box transcriptional factor required for cardiogenesis and limb development. TBX5 mutations cause Holt-Oram syndrome characterized by congenital heart defects and upper limb deformations. Here we establish a novel function for TBX5 in pre-mRNA splicing, and we show that this function is relevant to the pathogenesis of Holt-Oram syndrome, providing
American Society for Biochemistry and Molecular Biology.
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9. Different TBX5 interactions in heart and limb defined by Holt–Oram syndrome mutations
To better understand the role of TBX5, a T-box containing transcription factor in forelimb and heart development, we have studied the clinical features of Holt–Oram syndrome caused by 10 different TBX5 mutations. Defects predicted to create null alleles caused substantial abnormalities both in limb and heart. In contrast, missense mutations produced distin
The National Academy of Sciences.
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10. Muscular involvement in the Holt-Oram syndrome.
Holt-Oram syndrome is an autosomal dominant disorder characterised by radial ray and congenital heart defects. Recently, a gene for this disorder has been identified on chromosome 12q24.1, encoding a T box transcription factor. However, the functional role of the gene product is not completely understood. We present results of neurological, radiological, and
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11. Association of secundum atrial septal defect with abnormalities of atrioventricular conduction or left axis deviation. Genetic study of 10 families.
A genetic analysis was made of 10 families in which the propositi had a secundum atrial septal defect associated with abnormal atrioventricular conduction (first, second, or third degree heart block) or unexplained left axis deviation or a combination of these conduction disturbances. Diagnostic information was available on 51 (81%) of the first degree relat