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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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J Med Genet, 31pp. Arch Dis Child, 79pp. Am J Med Genet, 80pp.

Genética de las cardiopatías congénitas | Anales de Pediatría

Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects. Microdeletions whitin 22q11 associated with sporadic and familial DiGeorge syndrome.

Am J Hum Genet, 57pp. J Mol Cell Cardiol, 29pp.

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Confirmation that the velo-cardio-facial syndrome is associated with haploinsufficiency of genes at chromosome Genomics, 35pp. Clinical and molecular characterization of patients with distal 11q deletions. Cardiopatias congenitas en pediatria syndrome cardiopatkas dysplasia and del 20 p Pediatr Clin North Am, 37pp. Prevalence of 22q11 microdeletions in Di-George and velocardiofacial syndromes: J Cardiovasc Electrophysiol, 10pp.


Population-based study of congenital cardiopatias congenitas en pediatria defects in Down syndrome.

Three decades of follow-up of aortic and pulmonary vascular lesions in the Williams-Beuren syndrome. A second-generation study of probands with congenital heart defect and their children.

Am J Med Genet, 83pp.

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Mapping cardoopatias gene for Noonan syndrome to the long arm of chromosome Eur Heart J, 16pp. ADN fluorescent probes for diagnosis of velocardiofacial and related syndromes. Genetic study of congenital heart defects in Northern Ireland The DiGeorge anomaly comgenitas renal agenesis in infants of mothers with diabetes.

Jagged1 mutations in patients ascertained with isolated congenital heart defects. Interstitial deletion of 22q11 in DiGeorge syndrome de-tected by high resolution and molecular analysis.

Hypoparathyroidism as the major manifestation in two patients with 22q11 deletions.

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

Low penetrance in the long-QT syndrome: Di-George anomaly and chromosome 10p deletions: Cardiopatias congenitas en pediatria J Med Genet, 46pp. Curr Cardiopatias congenitas en pediatria Cardiol, 12pp.


Familial dilated cardiomyopathy locus maps to chromosome 2q Am J Hum Genet, 59pp. Recent progress in the molecular genetics of congenital heart defects. Holt-Oram syndrome with associated postaxial and central polysyndactyly: Alphacardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy.

J Med Genet, 34pp. J Am Coll Cardiol, 23pp. Detection of microdeletions of 22q.