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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A 30 kb deletion whiting the elastin gene results in familial supra valvular aortic stenosis. ADN fluorescent probes for diagnosis of velocardiofacial and related syndromes.

Genética de las cardiopatías congénitas | Anales de Pediatría

Confirmation of assignment of a locus for Rubinstein-Taybi syndrome gene to 16p Genomics, 35pp. Arch Dis Child, 71pp. Cell, 73pp.

Detection of microdeletions of 22q Biochem Mol Biol Int, 40pp. Population-based study of congenital heart defects in Down syndrome.

We review current knowledge on the genetic etiology of congenital heart disease.

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Low penetrance in the long-QT syndrome: SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field.

J Clin Invest,pp.

Genetic study of congenital heart defects in Northern Ireland Velo-cardio-facial and partial DiGeorge phenotype in a child with interstitial deletion at 10p Ann Med, 27cardiopatias congenitas en pediatria. Chromosome abnormalities in congenital heart disease.

A submicroscopic deletion in Xq26 associated with familial situs ambiguous. The magazine, referring to the Spanish-speaking pediatric, indexed in major international databases: Am J Med Genet, 70pp. A second-generation study of probands with congenital heart defect and their children. Nat Genet, 16pp. Microdeletions of chromosome 22 in patients with conotruncal cardiac defects.

Tentative assignment of a locus for Rubinstein Taybi syndrome to 16p Three decades of follow-up of aortic and pulmonary vascular lesions in the Williams-Beuren syndrome. J Med Genet, 33pp.

Am J Med Genet, 46pp. Supravalvular aortic stenosis cosegregates with a familial 6;7 translocation which disrupts the elastin gene.

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Cardiopatias congenitas en pediatria J Med Genet, 46pp.

Aspects of the aetiology of congenital heart disease. 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. Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome. Eur J Hum Genet, 2pp. J Cardiovasc Electrophysiol, 10pp. Nat Genet, 8pp. Incidence and evolution of congenital heart disease in Velo-cardio-facial and partial DiGeorge phenotype in a child with interstitial deletion at 10p Alagille syndrome arteriohepatic dysplasia and del 20 p