Evaluación Radiológica de las Cardiopatias Congenitas. 1. Cardiopatías Congénitas; 2. Cardiopatías Congénitas Incidencia 8 de cada. Primer sitio Web en Argentina sobre cardiopatías congénitas.

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Am J Med Genet, 37pp. Supravalvular aortic stenosis cosegregates with a familial 6;7 translocation which disrupts the elastin gene.

The Spanish Association of Pediatrics has as one of its main objectives the dissemination of rigorous and updated scientific information on the different areas of pediatrics. Adv Pediatr, 45pp.


SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field. Cardiovasc Res, 31pp.

Tentative assignment of a locus for Rubinstein Taybi syndrome to 16p Confirmation of assignment of a locus for Rubinsten-Taybi syndrome gene to 16p Nat Genet, 10pp. Interstitial deletion pediatriq 22q11 in DiGeorge syndrome de-tected by high resolution cardioaptias molecular analysis. Molecular genetics of congenital heart disease. Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome. Confirmation that the velo-cardio-facial syndrome is associated pediatroa haploinsufficiency of genes at chromosome Lancet,pp.


Specific mitochondrial ADN deletions in idiopathic dilated cardiomyopathy. Am J Med Genet, 70pp. Congenital heart malformations are the most common of all birth defects, affecting 0. Heart murmur in children less than 2 years-old: J Cardiovasc Electrophysiol, 10pp. Am J Med Genet, 47 Suplpp.

Genética de las cardiopatías congénitas | Anales de Pediatría (English Edition)

The genetic basis of paediatric cardiovascular disease. Nat Genet, 13pp. Arch Dis Child, 63pp. Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias. Previous article Next article.

Nat Genet, 10pp. Van der Hagen, A. Congenital heart disease caused by mutations in the transcription factor NKX A common region of 10p deleted in DiGeorge and velocardiofacial syndromes.

Eur Heart J, 16pp. Results of chromosomal analysis in fetuses with cardiac anomalies as diagnosed by first and early second-trimester echocar-diography. Curr Op Cardiol, 12pp. Patterns of autosomal dominant, autosomal recessive and X-linked inheritance have been described.

Cardiopstias Med Genet, 31pp. A 30 kb deletion whitin the elastin gene results in familial supravalvular aortic stenosis. Circulation, 90pp. Alphacardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy.

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Pediatrics, 86pp. Molecular definition of the chromosome 7 deletion in Wi-lliams syndrome and parent-of-origin effects on growth. Clin Genet, 54pp. Mapping a gene for Noonan syndrome to the long arm of chromosome Three decades of follow-up of aortic and pulmonary vascular lesions in the Williams-Beuren syndrome. Chromosome abnormalities in congenital heart disease.

Genetic study of congenital heart defects in Northern Ireland Familial DiGeorge syndrome and associated partial monosomy of chromosome Mapping of microsatellite markers in the Alagille region and screening of microdeletions by genotyping 23 patients. Cardiol Clin,pp.

Am J Hum Genet, 59pp.