Toutain A - Search Results

1

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.

Goldenberg A, Riccardi F, Tessier A, Pfundt R, Busa T, Cacciagli P, Capri Y, Coutton C, Delahaye-Duriez A, Frebourg T, Gatinois V, Guerrot AM, Genevieve D, Lecoquierre F, Jacquette A, Khau Van Kien P, Leheup B, Marlin S, Verloes A, Michaud V, Nadeau G, Mignot C, Parent P, Rossi M, Toutain A, Schaefer E, Thauvin-Robinet C, Van Maldergem L, Thevenon J, Satre V, Perrin L, Vincent-Delorme C, Sorlin A, Missirian C, Villard L, Mancini J, Saugier-Veber P, Philip N. Goldenberg A, et al. Among authors: toutain a. Am J Med Genet A. 2016 Nov;170(11):2847-2859. doi: 10.1002/ajmg.a.37878. Epub 2016 Sep 8. Am J Med Genet A. 2016. PMID: 27605097

2

Monosomy 6q: report on four new cases.

Valtat C, Galliano D, Mettey R, Toutain A, Moraine C. Valtat C, et al. Among authors: toutain a. Clin Genet. 1992 Mar;41(3):159-66. doi: 10.1111/j.1399-0004.1992.tb03655.x. Clin Genet. 1992. PMID: 1563091 Review.

3

Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome?

Saugier-Veber P, Munnich A, Lyonnet S, Toutain A, Moraine C, Piussan C, Mathieu M, Gibbons RJ. Saugier-Veber P, et al. Among authors: toutain a. Am J Med Genet. 1995 Jan 30;55(3):300-1. doi: 10.1002/ajmg.1320550310. Am J Med Genet. 1995. PMID: 7726226 No abstract available.

4

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. Among authors: toutain a. Am J Hum Genet. 1996 Mar;58(3):499-505. Am J Hum Genet. 1996. PMID: 8644709 Free PMC article.

5

X-linked mental retardation with neonatal hypotonia in a French family (MRX15): gene assignment to Xp11.22-Xp21.1.

Raynaud M, Gendrot C, Dessay B, Moncla A, Ayrault AD, Moizard MP, Toutain A, Briault S, Villard L, Ronce N, Moraine C. Raynaud M, et al. Among authors: toutain a. Am J Med Genet. 1996 Jul 12;64(1):97-106. doi: 10.1002/(SICI)1096-8628(19960712)64:1<97::AID-AJMG17>3.0.CO;2-N. Am J Med Genet. 1996. PMID: 8826458

6

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

7

Nance-Horan syndrome: linkage analysis in 4 families refines localization in Xp22.31-p22.13 region.

Toutain A, Ronce N, Dessay B, Robb L, Francannet C, Le Merrer M, Briard ML, Kaplan J, Moraine C. Toutain A, et al. Hum Genet. 1997 Feb;99(2):256-61. doi: 10.1007/s004390050349. Hum Genet. 1997. PMID: 9048931

8

Mental retardation in Nance-Horan syndrome: clinical and neuropsychological assessment in four families.

Toutain A, Ayrault AD, Moraine C. Toutain A, et al. Am J Med Genet. 1997 Aug 22;71(3):305-14. doi: 10.1002/(sici)1096-8628(19970822)71:3<305::aid-ajmg11>3.0.co;2-o. Am J Med Genet. 1997. PMID: 9268101 Review.

9

Central nervous system malformations and early end-stage renal disease in oro-facio-digital syndrome type I: a review.

Odent S, Le Marec B, Toutain A, David A, Vigneron J, Tréguier C, Jouan H, Milon J, Fryns JP, Verloes A. Odent S, et al. Among authors: toutain a. Am J Med Genet. 1998 Feb 3;75(4):389-94. Am J Med Genet. 1998. PMID: 9482645 Review.

10

Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature.

Sigaudy S, Toutain A, Moncla A, Fredouille C, Bourlière B, Ayme S, Philip N. Sigaudy S, et al. Among authors: toutain a. Am J Med Genet. 1998 Oct 30;80(1):16-24. Am J Med Genet. 1998. PMID: 9800907 Review.

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