Houdayer C - Search Results

1

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

2

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

3

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

4

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

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

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

7

Clinical evaluation of the CF(12)m cystic fibrosis DNA diagnostic kit.

Houdayer C, Cazeneuve C, Cougoureux E, Magnier C, Tredano M, Aymard P, Goossens M, Feldmann D. Houdayer C, et al. Clin Chem. 1998 Jun;44(6 Pt 1):1346-8. Clin Chem. 1998. PMID: 9625066 No abstract available.

8

Improved fluorescent PCR-based assay for sizing CGG repeats at the FRAXA locus.

Houdayer C, Lemonnier A, Gerard M, Chauve C, Tredano M, de Villemeur TB, Aymard P, Bonnefont JP, Feldmann D. Houdayer C, et al. Clin Chem Lab Med. 1999 Apr;37(4):397-402. doi: 10.1515/CCLM.1999.065. Clin Chem Lab Med. 1999. PMID: 10369109

9

Simple fluorescent PCR assay for discriminating FRAXA fully mutated females from normal homozygotes.

Houdayer C, Lourdaux J, Billette de Villemeur T, Royer-Legrain G, Bahuau M, Bonnefont JP, Feldmann D, Couderc R. Houdayer C, et al. Genet Test. 2002 Summer;6(2):135-9. doi: 10.1089/10906570260199410. Genet Test. 2002. PMID: 12215255

10

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

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