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Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.
Amiel J, Laudier B, Attié-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. Amiel J, et al. Among authors: gaultier c. Nat Genet. 2003 Apr;33(4):459-61. doi: 10.1038/ng1130. Epub 2003 Mar 17. Nat Genet. 2003. PMID: 12640453
Functional brain deficits in congenital central hypoventilation syndrome: commentary on the articles by Woo et al. on page 510 and Macey et al. on page 500.
Gaultier C. Gaultier C. Pediatr Res. 2005 Apr;57(4):471-2. doi: 10.1203/01.PDR.0000158667.41282.F1. Epub 2005 Feb 17. Pediatr Res. 2005. PMID: 15718351 No abstract available.
Abnormal esophageal motility in children with congenital central hypoventilation syndrome.
Faure C, Viarme F, Cargill G, Navarro J, Gaultier C, Trang H. Faure C, et al. Among authors: gaultier c. Gastroenterology. 2002 May;122(5):1258-63. doi: 10.1053/gast.2002.33062. Gastroenterology. 2002. PMID: 11984512
PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome.
Trochet D, de Pontual L, Straus C, Gozal D, Trang H, Landrieu P, Munnich A, Lyonnet S, Gaultier C, Amiel J. Trochet D, et al. Among authors: gaultier c. Am J Respir Crit Care Med. 2008 Apr 15;177(8):906-11. doi: 10.1164/rccm.200707-1079OC. Epub 2007 Dec 13. Am J Respir Crit Care Med. 2008. PMID: 18079495
Pediatric disorders with autonomic dysfunction: what role for PHOX2B?
Gaultier C, Trang H, Dauger S, Gallego J. Gaultier C, et al. Pediatr Res. 2005 Jul;58(1):1-6. doi: 10.1203/01.PDR.0000166755.29277.C4. Epub 2005 May 18. Pediatr Res. 2005. PMID: 15901893 Review.
Sleep-disordered breathing in newborn mice heterozygous for the transcription factor Phox2b.
Durand E, Dauger S, Pattyn A, Gaultier C, Goridis C, Gallego J. Durand E, et al. Among authors: gaultier c. Am J Respir Crit Care Med. 2005 Jul 15;172(2):238-43. doi: 10.1164/rccm.200411-1528OC. Epub 2005 Apr 28. Am J Respir Crit Care Med. 2005. PMID: 15860752
PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome.
Trochet D, O'Brien LM, Gozal D, Trang H, Nordenskjöld A, Laudier B, Svensson PJ, Uhrig S, Cole T, Niemann S, Munnich A, Gaultier C, Lyonnet S, Amiel J. Trochet D, et al. Among authors: gaultier c. Am J Hum Genet. 2005 Mar;76(3):421-6. doi: 10.1086/428366. Epub 2005 Jan 18. Am J Hum Genet. 2005. PMID: 15657873 Free PMC article.
The French Congenital Central Hypoventilation Syndrome Registry: general data, phenotype, and genotype.
Trang H, Dehan M, Beaufils F, Zaccaria I, Amiel J, Gaultier C; French CCHS Working Group. Trang H, et al. Among authors: gaultier c. Chest. 2005 Jan;127(1):72-9. doi: 10.1378/chest.127.1.72. Chest. 2005. PMID: 15653965
PHOX2B gene mutation in a patient with late-onset central hypoventilation.
Trang H, Laudier B, Trochet D, Munnich A, Lyonnet S, Gaultier C, Amiel J. Trang H, et al. Among authors: gaultier c. Pediatr Pulmonol. 2004 Oct;38(4):349-51. doi: 10.1002/ppul.20074. Pediatr Pulmonol. 2004. PMID: 15334515
Genetics and early disturbances of breathing control.
Gaultier C, Amiel J, Dauger S, Trang H, Lyonnet S, Gallego J, Simonneau M. Gaultier C, et al. Pediatr Res. 2004 May;55(5):729-33. doi: 10.1203/01.PDR.0000115677.78759.C5. Epub 2004 Jan 22. Pediatr Res. 2004. PMID: 14739359 Review.
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