Health-related quality of life in young adults with congenital central hypoventilation syndrome due to PHOX2B mutations: a cross-sectional study-Reference-Cited by-同舟云学术

Health-related quality of life in young adults with congenital central hypoventilation syndrome due to PHOX2B mutations: a cross-sectional study

Published:2015-06-30 Issue:1 Volume:16 Page:
ISSN:1465-993X
Container-title:Respiratory Research
language:en
Short-container-title:Respir Res

Author:

Verkaeren Emilienne,Brion Agnès,Hurbault Amélie,Chenivesse Cécile,Morelot-Panzini Capucine,Gonzalez-Bermejo Jésus,Attali Valérie,Similowski Thomas^ORCID,Straus Christian

Publisher

Springer Science and Business Media LLC

Link

http://link.springer.com/article/10.1186/s12931-015-0241-3/fulltext.html

Reference41 articles.

1. Trang H, Dehan M, Beaufils F, Zaccaria I, Amiel J, Gaultier C. The French Congenital Central Hypoventilation Syndrome Registry: general data, phenotype, and genotype. Chest. 2005;127:72–9.

2. Amiel J, Laudier B, Attie-Bitach T, Trang H, de Pontual L, Gener B, et al. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet. 2003;33:459–61.

3. Weese-Mayer DE, Berry-Kravis EM, Zhou L, Maher BS, Silvestri JM, Curran ME, et al. 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 Part A. 2003;123A:267–78.

4. Sasaki A, Kanai M, Kijima K, Akaba K, Hashimoto M, Hasegawa H, et al. Molecular analysis of congenital central hypoventilation syndrome. Hum Genet. 2003;114:22–6.

5. Matera I, Bachetti T, Puppo F, Di Duca M, Morandi F, Casiraghi GM, et al. 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. J Med Genet. 2004;41:373–80.

Cited by 13 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Characteristics and outcomes in children with congenital central hypoventilation syndrome on long-term mechanical ventilation in the Netherlands;European Journal of Pediatrics;2023-11-25

2. Chronic Noninvasive Ventilatory Support in Various Chronic Respiratory Conditions Including Protocols;Sleep Medicine;2023

3. Valuing the “Burden” and Impact of Rare Diseases: A Scoping Review;Frontiers in Pharmacology;2022-06-08

4. Rare cause of neonatal apnea from congenital central hypoventilation syndrome;BMC Pediatrics;2022-02-24

5. It Takes a Village: The Importance of Neuropsychological Findings in a Collaborative Approach for a Patient with Congenital Central Hypoventilation Syndrome and Specific Phobia;Case Reports in Psychiatry;2021-10-31