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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Fibrillin-1 mutations in Marfan syn-drome and other type-1 fibrillinopathies. Patterns of autosomal dominant, autosomal recessive and X-linked inheritance have been described. A prospective cytogenetic congenita of 36 cases of DiGeorge syndrome.

Alagille syndrome arteriohepatic dysplasia and del 20 p Am J Med Genet, pediagria. Am J Med Genet, 84pp.

Velo-cardio-facial and partial DiGeorge phenotype in a child with interstitial deletion at 10p A 30 kb deletion whiting the elastin gene results in familial supra valvular aortic stenosis. A 30 kb deletion whitin the elastin gene results in familial supravalvular aortic stenosis. Familial DiGeorge syndrome pediayria associated partial monosomy of chromosome Prevalence of cardiovascular malformations and association with karyotypes in Turner’s syndrome. GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p Eur Heart J, 16pp.

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CARDIOPATIAS CONGENITAS EN PEDIATRIA EBOOK

Several genes for congenital heart defects have been identified. A population study of chromosome 22q11 deletions congentas infancy. The Impact Factor measures the average number of citations received in a particular year by papers published in the journal during the two receding years.

Congenital heart malformations are the most common of all birth defects, affecting 0. A common region of 10p deleted in DiGeorge and velocardiofacial syndromes.

Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus. Cell, 73pp.

Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome. J Am Coll Cardiol, 23pp. Detection of microdeletions of 22q.

Hum Genet, 65pp. Circulation, 91pp. The DiGeorge anomaly as a develop-mental field defect. Am J Med Genet, 80pp. Am J Med Genet, 38pp. Adv Pediatr, 45pp.

Genética de las cardiopatías congénitas | Anales de Pediatría

Genetics of congenital heart disease: Nat Genet, 16pp. Fibrillin-1 mutations in Marfan syn-drome and other type-1 fibrillinopathies. Am J Cardiol, 59pp. Cardiovasc Res, 31pp. Hum Mutat, 13pp. Nat Genet, 17pp. Cloning a balanced translocation associated with Cardiipatias syndrome and identification of a disrupted candidate gene. The gene for Ellisvan Creveld syndrome is located on chromosome 4p Di-George anomaly and chromosome 10p deletions: Science,pp. A major involvement of the cardiovascular system in patients affected by Marfan syndrome: Interstitial deletion of 22q11 in DiGeorge syndrome de-tected by high resolution and molecular analysis.

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Genetic study of congenital heart defects in Northern Ireland The DiGeorge anomaly comgenitas renal agenesis in infants of mothers with diabetes. Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects.

Arch Dis Child, 63pp.