Dastot-Le Moal F - Search Results

1

Review and update of mutations causing Waardenburg syndrome.

Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N. Pingault V, et al. Hum Mutat. 2010 Apr;31(4):391-406. doi: 10.1002/humu.21211. Hum Mutat. 2010. PMID: 20127975 Free article. Review.

2

Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease.

Cacheux V, Dastot-Le Moal F, Kääriäinen H, Bondurand N, Rintala R, Boissier B, Wilson M, Mowat D, Goossens M. Cacheux V, et al. Hum Mol Genet. 2001 Jul 1;10(14):1503-10. doi: 10.1093/hmg/10.14.1503. Hum Mol Genet. 2001. PMID: 11448942

3

Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B.

Wilson M, Mowat D, Dastot-Le Moal F, Cacheux V, Kääriäinen H, Cass D, Donnai D, Clayton-Smith J, Townshend S, Curry C, Gattas M, Braddock S, Kerr B, Aftimos S, Zehnwirth H, Barrey C, Goossens M. Wilson M, et al. Am J Med Genet A. 2003 Jun 15;119A(3):257-65. doi: 10.1002/ajmg.a.20053. Am J Med Genet A. 2003. PMID: 12784289

4

Pleiotropic and diverse expression of ZFHX1B gene transcripts during mouse and human development supports the various clinical manifestations of the "Mowat-Wilson" syndrome.

Bassez G, Camand OJ, Cacheux V, Kobetz A, Dastot-Le Moal F, Marchant D, Catala M, Abitbol M, Goossens M. Bassez G, et al. Neurobiol Dis. 2004 Mar;15(2):240-50. doi: 10.1016/j.nbd.2003.10.004. Neurobiol Dis. 2004. PMID: 15006694

5

Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis.

Niel F, Martin J, Dastot-Le Moal F, Costes B, Boissier B, Delattre V, Goossens M, Girodon E. Niel F, et al. J Med Genet. 2004 Nov;41(11):e118. doi: 10.1136/jmg.2004.022400. J Med Genet. 2004. PMID: 15520400 Free PMC article. No abstract available.

6

Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation.

McGaughran J, Sinnott S, Dastot-Le Moal F, Wilson M, Mowat D, Sutton B, Goossens M. McGaughran J, et al. Am J Med Genet A. 2005 Sep 1;137A(3):302-4. doi: 10.1002/ajmg.a.30896. Am J Med Genet A. 2005. PMID: 16088920

7

Pure direct duplication (12)(q24.1-->q24.2) in a child with Marcus Gunn phenomenon and multiple congenital anomalies.

Doco-Fenzy M, Mauran P, Lebrun JM, Bock S, Bednarek N, Struski S, Albuisson J, Ardalan A, Collot N, Schneider A, Dastot-Le Moal F, Gaillard D, Goossens M. Doco-Fenzy M, et al. Am J Med Genet A. 2006 Feb 1;140(3):212-21. doi: 10.1002/ajmg.a.31057. Am J Med Genet A. 2006. PMID: 16411218

8

ZFHX1B mutations in patients with Mowat-Wilson syndrome.

Dastot-Le Moal F, Wilson M, Mowat D, Collot N, Niel F, Goossens M. Dastot-Le Moal F, et al. Hum Mutat. 2007 Apr;28(4):313-21. doi: 10.1002/humu.20452. Hum Mutat. 2007. PMID: 17203459

9

Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease.

de Pontual L, Pelet A, Clement-Ziza M, Trochet D, Antonarakis SE, Attie-Bitach T, Beales PL, Blouin JL, Dastot-Le Moal F, Dollfus H, Goossens M, Katsanis N, Touraine R, Feingold J, Munnich A, Lyonnet S, Amiel J. de Pontual L, et al. Hum Mutat. 2007 Aug;28(8):790-6. doi: 10.1002/humu.20517. Hum Mutat. 2007. PMID: 17397038

10

Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.

Bondurand N, Dastot-Le Moal F, Stanchina L, Collot N, Baral V, Marlin S, Attie-Bitach T, Giurgea I, Skopinski L, Reardon W, Toutain A, Sarda P, Echaieb A, Lackmy-Port-Lis M, Touraine R, Amiel J, Goossens M, Pingault V. Bondurand N, et al. Am J Hum Genet. 2007 Dec;81(6):1169-85. doi: 10.1086/522090. Epub 2007 Oct 22. Am J Hum Genet. 2007. PMID: 17999358 Free PMC article.

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