Molecular Screening for 22Q11.2 Deletion Syndrome in Patients With Congenital Heart Disease-Reference-Cited by-同舟云学术

Molecular Screening for 22Q11.2 Deletion Syndrome in Patients With Congenital Heart Disease

Published:2014-06-01 Issue:8 Volume:35 Page:1356-1362
ISSN:0172-0643
Container-title:Pediatric Cardiology
language:en
Short-container-title:Pediatr Cardiol

Author:

Huber Janaína,Peres Vivian Catarino,de Castro Alexandre Luz,dos Santos Tiago Jeronimo,da Fontoura Beltrão Lauro,de Baumont Angélica Cerveira,Cossio Silvia Liliana,Dalberto Tiago Pires,Riegel Mariluce,Cañedo Andrés Delgado,Schaan Beatriz D’Agord,Pellanda Lucia Campos

Publisher

Springer Science and Business Media LLC

Subject

Cardiology and Cardiovascular Medicine,Pediatrics, Perinatology, and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s00246-014-0936-0.pdf

Reference38 articles.

1. Amati F, Conti E, Novelli A et al (1999) Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome. Eur J Hum Genet 7:903–909

2. Botto LD, May K, Fernhoff PM et al (2003) A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics 112:101–107

3. Brauner R, Le Harivel de Gonneville A, Kindermans C et al (2003) Parathyroid function and growth in 22q11.2 deletion syndrome. J Pediatr 142:504–508

4. Chegar BE, Tatum SA, Marrinan E, Shprintzen RJ (2006) Upper airway asymmetry in velo-cardio-facial syndrome. Int J Pediatr Otorhinolaryngol 70:1375–1381

5. Chen YF, Kou PL, Tsai SJ et al (2006) Computational analysis and refinement of sequence structure on chromosome 22q11.2 region: application to the development of quantitative real-time PCR assay for clinical diagnosis. Genomics 87:290–297

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