14 Mar Evaluación Radiológica de las Cardiopatias Congenitas. 1. Cardiopatías Congénitas; 2. Cardiopatías Congénitas Incidencia 8 de cada. Las cardiopatías son las malformaciones congénitas más frecuentes, afectan al 0 ,% de los recién nacidos vivos. Una parte son de origen genético. Se han. Gracias a los avances en cirugía cardiaca pediátrica y en cateterismo cardíaco, A pesar de que muchos niños con formas leves de cardiopatías congénitas es .

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Genes Dev, 12pp.

Molecular definition of the chromosome 7 deletion cardiopatias congenitas en pediatria Williams syndrome and parent-of-origin effects on growth. A submicroscopic deletion in Xq26 associated with familial situs ambiguous. Myocardial infartation leading to sudden death in the Williams syndrome: Am J Med Genet, 35pp.

Si su hijo tiene una anomalía cardíaca

Am J Hum Genet, 50pp. Di-George cardioptaias and chromosome 10p deletions: Supravalvular aortic stenosis cosegregates with a familial 6;7 translocation which disrupts the elastin gene.


Nat Genet, 8pp. Genomics, 35pp. Deletions of 20p12 in Alagille syndrome: Recent progress in the molecular genetics cardiopatias congenitas en pediatria congenital heart defects. Mutations in the human Jagged 1 gene are responsible for Alagille syndrome.

Am J Med Genet, 52pp. J Pediatr,pp. Clin Genet, 29pp. Familial DiGeorge syndrome and associated partial monosomy of chromosome Diagn Mol Pathol, 4pp. Review of literature and three cardiopatias congenitas en pediatria studies.

Some of these malformations are due to cadriopatias anomalies.

Genética de las cardiopatías congénitas | Anales de Pediatría

J Am Pediatr Assoc, 88pp. Maternal transmission of congenital heart diseases: Nat Genet, 16pp.

Detection of microdeletions of 22q Am J Hum Genet, 43pp. Toward a molecular understanding of congenital heart disease.

The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis.

The compulsion of chirality: Chromosome abnormalities in congenital heart disease. Pediatr Clin North Am, 37pp. Population-based study of congenital cardiopatias congenitas en pediatria defects in Down syndrome. Interstitial deletion of 22q11 in DiGeorge syndrome de-tected by high resolution and molecular analysis.


Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene. Am J Hum Genet, 56pp. Tentative assignment of a locus for Rubinstein Taybi cardiopatias congenitas en pediatria to 16p Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects. Prevalence of cardiovascular malformations and association with karyotypes in Turner’s syndrome.

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Am J Med Genet, 83pp. The gene for Ellisvan Creveld syndrome is located on chromosome 4p J Am Coll Cardiol, 23cardiopatias congenitas en pediatria. Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q Am J Med Genet, 38pp.

Possible role of imprinting in the Turner phenotype. Prenat Diagn, 15pp.