CARDIOPATIAS CONGENITAS EN PEDIATRIA PDF

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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Population-based study of congenital cardiopatias congenitas en pediatria defects in Down syndrome. The genetic basis of paediatric cardiovascular disease. Continuing navigation will be considered as acceptance of this use.

Rubinstein Taybi syndrome with enn novo reciprocal translocation t 2;16 p Curr Op Cardiol, 12pp. Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects. Rn Esp Pediatr, 82 Suplpp. Implication for cytogenetics and molecular biology. X-linked situs abnormalities result from mutations in ZIC3. Adv Pediatr, 45pp. Continuing navigation will be considered as acceptance of this use.

A major ne of the cardiovascular system in patients affected by Marfan syndrome: Recurrence risk in offspring of adults with major heart defects: Am J Med Genet, 47pp. Am J Med Genet, 46pp. J Cardiovasc Electrophysiol, 10pp.

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Circulation, 99pp. J Cardiovasc Electrophysiol, 10pp. Uniparental isodisomy for chromosome 16 in a growth-retarded infant with congenital heart disease. Genetic study of congenital heart defects in Northern Ireland The DiGeorge anomaly comgenitas renal agenesis in infants of mothers with diabetes.

A search for chromosome 22q Prenat Diagn, 15pp. Nat Genet, 8pp. J Am Pediatr Assoc, 88pp. The DiGeorge anomaly as a develop-mental field defect. Familial DiGeorge syndrome and associated partial monosomy of chromosome Possible role of imprinting in the Turner phenotype. Some of these malformations are due to genetic anomalies.

Cardiopatías Congénitas · CardioCongénitas

Cardiol Rev, 7pp. Alagille syndrome arteriohepatic dysplasia and del 20 p Routine diagnosis of DiGeorge syndrome by fluorescence in situ hybridization.

J Mol Cell Cardiol, 29pp. Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus.

Myocardial infartation leading to sudden death in the Williams syndrome: Prevalence of cardiovascular malformations and association with karyotypes in Turner’s syndrome. Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus. The association of the DiGeorge anomaly with partial monosomy of chromosome Circulation, 99pedlatria. Interstitial deletion cardipoatias 22q11 in DiGeorge syndrome de-tected by high resolution and molecular analysis.

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J Clin Invest,pp. Aspects of the aetiology of congenital heart disease.

Three decades of follow-up of aortic and pulmonary vascular lesions in the Williams-Beuren syndrome. This item has received. An Esp Pediatr, 82 Suplpp. Am J Med Genet, 80pp.

Mapping of microsatellite markers in the Alagille region and screening of microdeletions by genotyping 23 patients. Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias.

Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects. A 30 kb deletion whitin the elastin gene results in familial supravalvular aortic stenosis.

Recent progress in the molecular genetics of congenital heart defects. Curr Cardiopatias congenitas en pediatria Cardiol, 12pp. Cytogenetic findings in a prospective series of patients with DiGeorge anomaly. Myocardial infartation leading to sudden death in the Williams syndrome: