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Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome.
Sanlaville D, Genevieve D, Bernardin C, Amiel J, Baumann C, de Blois MC, Cormier-Daire V, Gerard B, Gerard M, Le Merrer M, Parent P, Prieur F, Prieur M, Raoul O, Toutain A, Verloes A, Viot G, Romana S, Munnich A, Lyonnet S, Vekemans M, Turleau C. Sanlaville D, et al. Among authors: toutain a. Eur J Hum Genet. 2005 May;13(5):690-3. doi: 10.1038/sj.ejhg.5201383. Eur J Hum Genet. 2005. PMID: 15770228 Review.
A gene for hereditary multiple exostoses maps to chromosome 19p.
Le Merrer M, Legeai-Mallet L, Jeannin PM, Horsthemke B, Schinzel A, Plauchu H, Toutain A, Achard F, Munnich A, Maroteaux P. Le Merrer M, et al. Among authors: toutain a. Hum Mol Genet. 1994 May;3(5):717-22. doi: 10.1093/hmg/3.5.717. Hum Mol Genet. 1994. PMID: 8081357
Opitz GBBB syndrome: chromosomal evidence of an X-linked form.
Verloes A, David A, Odent S, Toutain A, André MJ, Lucas J, Le Marec B. Verloes A, et al. Among authors: toutain a. Am J Med Genet. 1995 Oct 23;59(1):123-8. doi: 10.1002/ajmg.1320590124. Am J Med Genet. 1995. PMID: 8849003
SHOX mutations in dyschondrosteosis (Leri-Weill syndrome).
Belin V, Cusin V, Viot G, Girlich D, Toutain A, Moncla A, Vekemans M, Le Merrer M, Munnich A, Cormier-Daire V. Belin V, et al. Among authors: toutain a. Nat Genet. 1998 May;19(1):67-9. doi: 10.1038/ng0198-67. Nat Genet. 1998. PMID: 9590292
SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome.
Cormier-Daire V, Belin V, Cusin V, Viot G, Girlich D, Toutain A, Moncla A, Vekemans M, Le Merrer M, Munnich A. Cormier-Daire V, et al. Among authors: toutain a. Acta Paediatr Suppl. 1999 Dec;88(433):55-9. doi: 10.1111/j.1651-2227.1999.tb14404.x. Acta Paediatr Suppl. 1999. PMID: 10626546
Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation.
Giraudeau F, Taine L, Biancalana V, Delobel B, Journel H, Missirian C, Lacombe D, Bonneau D, Parent P, Aubert D, Hauck Y, Croquette MF, Toutain A, Mattei MG, Loiseau HA, David A, Vergnaud G. Giraudeau F, et al. Among authors: toutain a. J Med Genet. 2001 Feb;38(2):121-5. doi: 10.1136/jmg.38.2.121. J Med Genet. 2001. PMID: 11288712 Free PMC article. No abstract available.
273 results