Houdayer CI - Search Results

1

X-linked alpha-thalassemia/mental retardation syndrome. Linkage analysis in a new family further supports localization in proximal Xq.

Houdayer CI, Toutain A, Ronce N, Lefort G, Sarda P, Taib J, Briault S, Lambert JC, Moraine CI. Houdayer CI, et al. Ann Genet. 1993;36(4):194-9. Ann Genet. 1993. PMID: 8166423

2

X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome. Report of three male patients in a large French family.

Lefort G, Taib J, Toutain A, Houdayer C, Moraine CI, Humeau C, Sarda P. Lefort G, et al. Among authors: houdayer c. Ann Genet. 1993;36(4):200-5. Ann Genet. 1993. PMID: 8166424

3

Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia.

Villard L, Toutain A, Lossi AM, Gecz J, Houdayer C, Moraine C, Fontès M. Villard L, et al. Am J Hum Genet. 1996 Mar;58(3):499-505. Am J Hum Genet. 1996. PMID: 8644709 Free PMC article.

4

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

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

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. Am J Med Genet. 1998 Jan 23;75(3):265-72. Am J Med Genet. 1998. PMID: 9475595

7

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

8

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

9

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.

10

[Genetic testing for cystic fibrosis: evaluation of the Elucigene CF20 kit in blood and buccal cells].

Feldmann D, Guittard C, Georges MD, Houdayer C, Magnier C, Claustres M, Couderc R. Feldmann D, et al. Ann Biol Clin (Paris). 2001 May-Jun;59(3):277-83. Ann Biol Clin (Paris). 2001. PMID: 11397675 Free article. French.

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