Gaultier C - Search Results

1

Exclusion of RNX as a major gene in congenital central hypoventilation syndrome (CCHS, Ondine's curse).

Amiel J, Pelet A, Trang H, de Pontual L, Simonneau M, Munnich A, Gaultier C, Lyonnet S. Amiel J, et al. Among authors: gaultier c. Am J Med Genet A. 2003 Feb 15;117A(1):18-20. doi: 10.1002/ajmg.a.10934. Am J Med Genet A. 2003. PMID: 12548735

2

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

3

Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse).

de Pontual L, Népote V, Attié-Bitach T, Al Halabiah H, Trang H, Elghouzzi V, Levacher B, Benihoud K, Augé J, Faure C, Laudier B, Vekemans M, Munnich A, Perricaudet M, Guillemot F, Gaultier C, Lyonnet S, Simonneau M, Amiel J. de Pontual L, et al. Among authors: gaultier c. Hum Mol Genet. 2003 Dec 1;12(23):3173-80. doi: 10.1093/hmg/ddg339. Epub 2003 Oct 7. Hum Mol Genet. 2003. PMID: 14532329

4

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

5

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

6

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.

7

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

8

Genes modulating chemical breathing control: lessons from mutant animals.

Gaultier C, Dauger S, Simonneau M, Gallego J. Gaultier C, et al. Respir Physiol Neurobiol. 2003 Jul 16;136(2-3):105-14. doi: 10.1016/s1569-9048(03)00075-2. Respir Physiol Neurobiol. 2003. PMID: 12853003 Review.

9

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.

10

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.

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