Houdayer C - Search Results

1

Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome.

Bahuau M, Houdayer C, Assouline B, Blanchet-Bardon C, Le Merrer M, Lyonnet S, Giraud S, Récan D, Lakhdar H, Vidaud M, Vidaud D. Bahuau M, et al. Among authors: houdayer c. Am J Med Genet. 1998 Jan 23;75(3):265-72. Am J Med Genet. 1998. PMID: 9475595

2

Pierre Robin sequence and interstitial deletion 2q32.3-q33.2.

Houdayer C, Portnoï MF, Vialard F, Soupre V, Crumière C, Taillemite JL, Couderc R, Vazquez MP, Bahuau M. Houdayer C, et al. Am J Med Genet. 2001 Aug 15;102(3):219-26. doi: 10.1002/ajmg.1448. Am J Med Genet. 2001. PMID: 11484197

3

FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate.

Bahuau M, Houdayer C, Tredano M, Soupre V, Couderc R, Vazquez MP. Bahuau M, et al. Among authors: houdayer c. Clin Genet. 2002 Dec;62(6):470-3. doi: 10.1034/j.1399-0004.2002.620608.x. Clin Genet. 2002. PMID: 12485195

4

Possible relationship between the van der Woude syndrome (vWS) locus and nonsyndromic cleft lip with or without cleft palate (NSCL/P).

Houdayer C, Bonaïti-Pellié C, Erguy C, Soupre V, Dondon MG, Bürglen L, Cougoureux E, Couderc R, Vazquez MP, Bahuau M. Houdayer C, et al. Am J Med Genet. 2001 Nov 15;104(1):86-92. doi: 10.1002/1096-8628(20011115)104:1<86::aid-ajmg10053>3.0.co;2-e. Am J Med Genet. 2001. PMID: 11746036

5

Orofacial cleft defects: inference from nature and nurture.

Houdayer C, Bahuau M. Houdayer C, et al. Ann Genet. 1998;41(2):89-117. Ann Genet. 1998. PMID: 9706339 Review.

6

Analysis of 40 sporadic or familial neonatal and pediatric cases with severe unexplained respiratory distress: relationship to SFTPB.

Tredano M, Griese M, de Blic J, Lorant T, Houdayer C, Schumacher S, Cartault F, Capron F, Boccon-Gibod L, Lacaze-Masmonteil T, Renolleau S, Delaisi B, Elion J, Couderc R, Bahuau M. Tredano M, et al. Among authors: houdayer c. Am J Med Genet A. 2003 Jun 15;119A(3):324-39. doi: 10.1002/ajmg.a.20058. Am J Med Genet A. 2003. PMID: 12784301

7

Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease.

Tredano M, Griese M, Brasch F, Schumacher S, de Blic J, Marque S, Houdayer C, Elion J, Couderc R, Bahuau M. Tredano M, et al. Among authors: houdayer c. Am J Med Genet A. 2004 Apr 1;126A(1):18-26. doi: 10.1002/ajmg.a.20670. Am J Med Genet A. 2004. PMID: 15039969

8

1q32-q41 microdeletion with reference to Van der Woude syndrome and allied clefting entities.

Houdayer C, Soupre V, Karcenty B, Vazquez MP, Odent S, Lacombe D, Le Bouc Y, Munnich A, Bahuau M. Houdayer C, et al. Am J Med Genet. 2000 Mar 13;91(2):161-3. doi: 10.1002/(sici)1096-8628(20000313)91:2<161::aid-ajmg18>3.0.co;2-q. Am J Med Genet. 2000. PMID: 10748420 No abstract available.

9

Compound SFTPB 1549C-->GAA (121ins2) and 457delC heterozygosity in severe congenital lung disease and surfactant protein B (SP-B) deficiency.

Tredano M, van Elburg RM, Kaspers AG, Zimmermann LJ, Houdayer C, Aymard P, Hull WM, Whitsett JA, Elion J, Griese M, Bahuau M. Tredano M, et al. Among authors: houdayer c. Hum Mutat. 1999;14(6):502-9. doi: 10.1002/(SICI)1098-1004(199912)14:6<502::AID-HUMU9>3.0.CO;2-C. Hum Mutat. 1999. PMID: 10571948

10

Linkage analysis of 5 novel van der Woude syndrome kindreds to 1q32-q41 markers further supports locus homogeneity of the disease trait.

Houdayer C, Soupre V, Rosenberg-Bourgin M, Martinez H, Tredano M, Feldmann D, Feingold J, Aymard P, Munnich A, Le Bouc Y, Vazquez MP, Bahuau M. Houdayer C, et al. Ann Genet. 1999;42(2):69-74. Ann Genet. 1999. PMID: 10434119

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