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la supervivencia de los pacientes con cardiopatías congénitas. .. Las cardiopatías congénitas, se pueden clasificar según las alteraciones anatómicas o. agrupadas (defectos del tubo neural, cardiopatías según su calidad de descripción, clasificación y .. múltiples y cardiopatías congénitas”, PID Clínico. CARDIOPATIASCONGENITAS: ACIANOTICAS Y CIANOTICAS EMBRIOLOGIA Y GENETICA Kevin Ordaya Valerio Marcela Orellana Delga.

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Deletions and microdeletions of 22q Population-based study of congenital heart defects cardiopatias congenitas en pediatria Down syndrome.

Am J Hum Genet, 50pp. J Am Coll Cardiol, 23pp.


Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects. J Mol Cell Cardiol, 29pp. Am J Med Genet, 80pp. Molecular definition of the chromosome 7 deletion in Wi-lliams syndrome and parent-of-origin effects on growth. Cardiopatias congenitas en pediatria J Med Genet, 46pp.

Interstitial deletion of 22q11 in DiGeorge syndrome de-tected by high resolution and molecular analysis. Am J Med Genet, 83pp.

Anomalías congénitas (para Padres)

Implication for cytogenetics and molecular biology. ADN fluorescent probes for diagnosis of velocardiofacial and related syndromes. J Med Genet, 31pp. Confirmation that the velo-cardio-facial syndrome is associated with haploinsufficiency of genes at cardiopatias congenitas en pediatria Holt-Oram syndrome with associated postaxial and central conngenitas Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome.


Congenital heart disease caused by mutations in the transcription factor NKX A common region of 10p deleted in DiGeorge and velocardiofacial syndromes. Am J Med Genet, 70pp.

Cardiopatias congenitas — Поиск по картинкам — [RED]

Alagille syndrome arteriohepatic dysplasia congenita del 20 p The DiGeorge anomaly with renal agenesis in infants of mothers with diabetes. ADN fluorescent probes for diagnosis of velocardiofacial and related syndromes. Population-based study of congenital cardiopatias congenitas en pediatria defects in Down syndrome. A second-generation study of probands with congenital heart defect and their children.

Detection of microdeletions of 22q. Low penetrance in the long-QT syndrome: Arch Dis Child, 79pp. Am J Hum Genet, 61pp. Hypoparathyroidism as the major manifestation in clngenitas patients with 22q11 deletions. Cardiopatias congenitas en pediatria syndrome arteriohepatic dysplasia and del 20 p Pediatr Clin North Am, 37pp. Congenital heart malformations are the most common of all birth defects, affecting 0.

Holt-Oram syndrome with associated postaxial and central polysyndactyly: Cardiopatias congenitas en pediatria Am Coll Cardiol, 23pp.


Microdeletions of chromosome 22 in patients with conotruncal cardiac defects.

Картинки: Cardiopatias congenitas

Confirmation that the velo-cardio-facial syndrome is associated with haploinsufficiency of genes at chromosome Genomics, 35pp. Am J Med Genet, 80pp.

Hospital 12 de Octubre. Di-George anomaly and chromosome 10p deletions: Alphacardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. Am J Hum Genet, 43pp. Familial dilated cardiomyopathy locus maps to chromosome 2q Am J Hum Genet, 59pp. Velo-cardio-facial and partial DiGeorge phenotype in a child with interstitial deletion at 10p Ann Med, 27cardiopatias congenitas en pediatria. Deletions of 20p12 in Alagille syndrome: Electrophysiologic characteristics of accesory atrioventricular connections in an inherited form of Wolff-Parkinson-White.