Proceedings of the fourth international conference on central hypoventilation-Reference-Cited by-同舟云学术

Proceedings of the fourth international conference on central hypoventilation

Published:2014-12 Issue:1 Volume:9 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Trang Ha, ,Brunet Jean-François,Rohrer Hermann,Gallego Jorge,Amiel Jeanne,Bachetti Tiziana,Fischbeck Kenneth H,Similowski Thomas,Straus Christian,Ceccherini Isabella,Weese-Mayer Debra E,Frerick Matthias,Bieganowska Katarzyna,Middleton Linda,Morandi Francesco,Ottonello Giancarlo

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-014-0194-5.pdf

Reference133 articles.

1. Fleming PJ, Cade D, Bryan MH, Bryan AC: Congenital central hypoventilation and sleep state. Pediatrics. 1980, 66 (3): 425-428.

2. Huang J, Colrain IM, Panitch HB, Tapia IE, Schwartz MS, Samuel J, Pepe M, Bandla P, Bradford R, Mosse YP, Maris JM, Marcus CL: Effect of sleep stage on breathing in children with central hypoventilation. J Appl Physiol. 2008, 105 (1): 44-53.

3. Weese-Mayer DE, Silvestri JM, Menzies LJ, Morrow-Kenny AS, Hunt CE, Hauptman SA: Congenital central hypoventilation syndrome: diagnosis, management, and long-term outcome in thirty-two children. J Pediatr. 1992, 120 (3): 381-387.

4. Weese-Mayer DE, Berry-Kravis EM, Zhou L, Maher BS, Silvestri JM, Curran ME, Marazita ML: Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b. Am J Med Genet A. 2003, 123A (3): 267-278.

5. Amiel J, Laudier B, Attie-Bitach T, Trang H, de Pontual L, Gener B, Trochet D, Etchevers H, Ray P, Simonneau M, Vekemans M, Munnich A, Gaultier C, Lyonnet S: Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet. 2003, 33 (4): 459-461.

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