Édition française de la Déclaration officielle de politique clinique de l’American Thoracic Society (ATS) sur le syndrome d’hypoventilation alvéolaire centrale congénitale. Bases génétiques, diagnostic et prise en charge-Reference-Cited by-同舟云学术

Édition française de la Déclaration officielle de politique clinique de l’American Thoracic Society (ATS) sur le syndrome d’hypoventilation alvéolaire centrale congénitale. Bases génétiques, diagnostic et prise en charge

Published:2013-10 Issue:8 Volume:30 Page:706-733
ISSN:0761-8425
Container-title:Revue des Maladies Respiratoires
language:fr
Short-container-title:Revue des Maladies Respiratoires

Author:

Weese-Mayer D.E.,Berry-Kravis E.M.,Ceccherini I.,Keens T.G.,Loghmanee D.A.,Trang H.

Publisher

Elsevier BV

Subject

Pulmonary and Respiratory Medicine

Reference153 articles.

1. Idiopathic congenital central hypoventilation syndrome : diagnosis and management. American Thoracic Society;Weese-Mayer;Am J Respir Crit Care Med,1999

2. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome;Amiel;Nat Genet,2003

3. Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2B;Weese-Mayer;Am J Med Genet A,2003

4. Molecular analysis of congenital central hypoventilation syndrome;Sasaki;Hum Genet,2003

5. PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset central hypoventilation syndrome;Matera;J Med Genet,2004

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