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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Congenital heart malformations are the most common of all birth defects, affecting 0. Some of these malformations are due to genetic anomalies.

Patterns of autosomal dominant, autosomal recessive and X-linked inheritance have been described. Mitochondrial inheritance and chromosomal anomalies can also be responsible for congenital heart malformations. Several genes for congenital heart defects have been identified. We review current knowledge on the genetic etiology of congenital heart disease. Hospital 12 de Octubre. We review current knowledge on the genetic etiology of congenital heart disease.

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CARDIOPATIAS CONGENITAS EN PEDIATRIA EBOOK

Electrophysiologic characteristics of accesory atrioventricular connections in an inherited form of Wolff-Parkinson-White.

J Cardiovasc Electrophysiol, 10pp. J Med Genet, 33pp. Molecular genetics of congenital heart disease. Curr Op Cardiol, 12pp. Holt-Oram cohgenitas with associated postaxial and central polysyndactyly: Genet Counsel, 7pp. Mutations in the human Jagged 1 gene are responsible for Alagille syndrome. Nat Genet, 16pp.

Gastroenterology,pp. Jagged1 mutations in patients ascertained with isolated congenital cardiopatis defects. Am J Med Genet, 84pp.

Van der Burgt, A. Mapping a gene for Noonan syndrome to the long arm of chromosome Nat Genet, 8pp. Fibrillin-1 mutations in Marfan syn-drome and other cardiipatias fibrillinopathies. Hum Mutat, 10pp. A second e for Marfan syndrome maps to chromosome 3p The gene for Ellisvan Creveld syndrome is located on chromosome 4p Genomics, 35pp.

A population study of chromosome 22q11 deletions in infancy. Arch Dis Child, 79pp.

Results of chromosomal analysis in fetuses with cardiac anomalies as diagnosed by first and early second-trimester echocar-diography. Ultrasound Obstetr Gynecol, 10pp.

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Population-based study of congenital heart defects in Down syndrome.

Am J Med Genet, 80pp. Am J Med Genet, 43pp. Am J Hum Genet, 50pp. Prevalence of cardiovascular malformations and association with karyotypes in Turner’s syndrome.

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Cardiopatías Congénitas · CardioCongénitas

Alagille syndrome arteriohepatic dysplasia and del 20 p Am J Med Genet, 35pp. J Med Genet, 34pp. Mapping of microsatellite markers in the Alagille region and screening of microdeletions by genotyping 23 patients. Eur J Hum Genet, 2pp.

Deletions of 20p12 in Alagille syndrome: Am J Med Genet, 70pp.

Review of literature and three cases studies. J Am Pediatr Assoc, 88pp. Uniparental isodisomy for chromosome 16 in a growth-retarded infant with congenital heart disease. Prenat Diagn, 15pp. Clinical and molecular characterization of patients with distal 11q deletions. Am J Hum Genet, 56pp. The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis.

Cell, 73pp. Supravalvular aortic stenosis cosegregates with a familial 6;7 translocation which disrupts the elastin gene. Am J Med Genet, 46pp. GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p Am J Med Genet, 83pp.