Toutain A - Search Results

1

Twenty-five novel mutations including duplications in the ATP7A gene.

Moizard MP, Ronce N, Blesson S, Bieth E, Burglen L, Mignot C, Mortemousque I, Marmin N, Dessay B, Danesino C, Feillet F, Castelnau P, Toutain A, Moraine C, Raynaud M. Moizard MP, et al. Among authors: toutain a. Clin Genet. 2011 Mar;79(3):243-53. doi: 10.1111/j.1399-0004.2010.01461.x. Clin Genet. 2011. PMID: 21208200

2

[Menkes syndrome. An unusual pigmentation anomaly in a mother and three sisters].

Lorette G, Toutain A, Barthes M, Saliba E, Georgesco G, Moraine C. Lorette G, et al. Among authors: toutain a. Ann Pediatr (Paris). 1992 Sep;39(7):453-6. Ann Pediatr (Paris). 1992. PMID: 1416668 French.

3

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.

4

[Reinhardt-Pfeiffer mesomelic dysplasia or dyschondrosteosis? Is the distinction well-founded? Apropos of a familial case with variable expression].

Toutain A, Sirinelli D, Paillet C, Bonnard C, Body G, Maroteaux P, Moraine C. Toutain A, et al. Ann Pediatr (Paris). 1991 Jan;38(1):37-45. Ann Pediatr (Paris). 1991. PMID: 2006832 French.

5

Prenatal diagnosis of trisomy 8 mosaicism in CVS after abnormal ultrasound findings at 12 weeks.

Guichet A, Briault S, Toutain A, Paillet C, Descamps P, Pierre F, Body G, Moraine C. Guichet A, et al. Among authors: toutain a. Prenat Diagn. 1995 Aug;15(8):769-72. doi: 10.1002/pd.1970150815. Prenat Diagn. 1995. PMID: 7479598

6

X-linked mental retardation exhibiting linkage to DXS255 and PGKP1: a new MRX family (MRX14) with localization in the pericentromeric region.

Gendrot C, Ronce N, Toutain A, Moizard MP, Müh JP, Raynaud M, Dourlens J, Briault S, Moraine C. Gendrot C, et al. Among authors: toutain a. Clin Genet. 1994 Mar;45(3):145-53. doi: 10.1111/j.1399-0004.1994.tb04012.x. Clin Genet. 1994. PMID: 8026106

7

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. Among authors: toutain a. Ann Genet. 1993;36(4):194-9. Ann Genet. 1993. PMID: 8166423

8

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: toutain a. Ann Genet. 1993;36(4):200-5. Ann Genet. 1993. PMID: 8166424

9

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.

10

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

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