Touraine R - Search Results

1

ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern.

Badens C, Martini N, Courrier S, DesPortes V, Touraine R, Levy N, Edery P. Badens C, et al. Among authors: touraine r. Am J Med Genet A. 2006 Oct 15;140(20):2212-5. doi: 10.1002/ajmg.a.31400. Am J Med Genet A. 2006. PMID: 16955409

2

Localization of a non-syndromic X-linked mental retardation gene (MRX80) to Xq22-q24.

Verot L, Alloisio N, Morlé L, Bozon M, Touraine R, Plauchu H, Edery P. Verot L, et al. Among authors: touraine r. Am J Med Genet A. 2003 Sep 15;122A(1):37-41. doi: 10.1002/ajmg.a.20221. Am J Med Genet A. 2003. PMID: 12949969

3

Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation.

Lesca G, Bernard V, Bozon M, Touraine R, Gérard D, Edery P, Calender A. Lesca G, et al. Among authors: touraine r. Eur J Med Genet. 2007 May-Jun;50(3):200-8. doi: 10.1016/j.ejmg.2007.02.001. Epub 2007 Feb 20. Eur J Med Genet. 2007. PMID: 17383248

4

A de novo SOX10 mutation causing severe type 4 Waardenburg syndrome without Hirschsprung disease.

Sznajer Y, Coldéa C, Meire F, Delpierre I, Sekhara T, Touraine RL. Sznajer Y, et al. Am J Med Genet A. 2008 Apr 15;146A(8):1038-41. doi: 10.1002/ajmg.a.32247. Am J Med Genet A. 2008. PMID: 18348267

5

Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects.

Vaurs-Barrière C, Deville M, Sarret C, Giraud G, Des Portes V, Prats-Viñas JM, De Michele G, Dan B, Brady AF, Boespflug-Tanguy O, Touraine R. Vaurs-Barrière C, et al. Among authors: touraine r. Ann Neurol. 2009 Jan;65(1):114-8. doi: 10.1002/ana.21579. Ann Neurol. 2009. PMID: 19194886 Free article.

6

17p13.1 microdeletion involving the TP53 gene in a boy presenting with mental retardation but no tumor.

Schluth-Bolard C, Sanlaville D, Labalme A, Till M, Morin I, Touraine R, Edery P. Schluth-Bolard C, et al. Among authors: touraine r. Am J Med Genet A. 2010 May;152A(5):1278-82. doi: 10.1002/ajmg.a.33316. Am J Med Genet A. 2010. PMID: 20425836

7

The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males.

Germanaud D, Rossi M, Bussy G, Gérard D, Hertz-Pannier L, Blanchet P, Dollfus H, Giuliano F, Bennouna-Greene V, Sarda P, Sigaudy S, Curie A, Vincent MC, Touraine R, des Portes V. Germanaud D, et al. Among authors: touraine r. Clin Genet. 2011 Mar;79(3):225-35. doi: 10.1111/j.1399-0004.2010.01551.x. Epub 2010 Oct 18. Clin Genet. 2011. PMID: 20950397

8

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.

Burglen L, Chantot-Bastaraud S, Garel C, Milh M, Touraine R, Zanni G, Petit F, Afenjar A, Goizet C, Barresi S, Coussement A, Ioos C, Lazaro L, Joriot S, Desguerre I, Lacombe D, des Portes V, Bertini E, Siffroi JP, de Villemeur TB, Rodriguez D. Burglen L, et al. Among authors: touraine r. Orphanet J Rare Dis. 2012 Mar 27;7:18. doi: 10.1186/1750-1172-7-18. Orphanet J Rare Dis. 2012. PMID: 22452838 Free PMC article.

9

Neuropathological features in a female fetus with OPHN1 deletion and cerebellar hypoplasia.

Rocas D, Alix E, Michel J, Cordier MP, Labalme A, Guilbert H, Till M, Schluth-Bolard C, de Haas P, Massardier J, Portes Vd, Edery P, Touraine R, Guibaud L, Vasiljevic A, Sanlaville D. Rocas D, et al. Among authors: touraine r. Eur J Med Genet. 2013 May;56(5):270-3. doi: 10.1016/j.ejmg.2013.01.014. Epub 2013 Feb 14. Eur J Med Genet. 2013. PMID: 23416624

10

Relevance of different cellular models in determining the effects of mutations on SLC16A2/MCT8 thyroid hormone transporter function and genotype-phenotype correlation.

Capri Y, Friesema EC, Kersseboom S, Touraine R, Monnier A, Eymard-Pierre E, Des Portes V, De Michele G, Brady AF, Boespflug-Tanguy O, Visser TJ, Vaurs-Barriere C. Capri Y, et al. Among authors: touraine r. Hum Mutat. 2013 Jul;34(7):1018-25. doi: 10.1002/humu.22331. Epub 2013 May 1. Hum Mutat. 2013. PMID: 23568789

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

620 results

Search Page

Filters