Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

487 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype.
Micol R, Ben Slama L, Suarez F, Le Mignot L, Beauté J, Mahlaoui N, Dubois d'Enghien C, Laugé A, Hall J, Couturier J, Vallée L, Delobel B, Rivier F, Nguyen K, Billette de Villemeur T, Stephan JL, Bordigoni P, Bertrand Y, Aladjidi N, Pedespan JM, Thomas C, Pellier I, Koenig M, Hermine O, Picard C, Moshous D, Neven B, Lanternier F, Blanche S, Tardieu M, Debré M, Fischer A, Stoppa-Lyonnet D; CEREDIH Network Investigators. Micol R, et al. Among authors: couturier j. J Allergy Clin Immunol. 2011 Aug;128(2):382-9.e1. doi: 10.1016/j.jaci.2011.03.052. Epub 2011 Jun 12. J Allergy Clin Immunol. 2011. PMID: 21665257
Three new BLM gene mutations associated with Bloom syndrome.
Amor-Guéret M, Dubois-d'Enghien C, Laugé A, Onclercq-Delic R, Barakat A, Chadli E, Bousfiha AA, Benjelloun M, Flori E, Doray B, Laugel V, Lourenço MT, Gonçalves R, Sousa S, Couturier J, Stoppa-Lyonnet D. Amor-Guéret M, et al. Among authors: couturier j. Genet Test. 2008 Jun;12(2):257-61. doi: 10.1089/gte.2007.0119. Genet Test. 2008. PMID: 18471088
Genotype-phenotype correlations in hereditary familial retinoblastoma.
Taylor M, Dehainault C, Desjardins L, Doz F, Levy C, Sastre X, Couturier J, Stoppa-Lyonnet D, Houdayer C, Gauthier-Villars M. Taylor M, et al. Among authors: couturier j. Hum Mutat. 2007 Mar;28(3):284-93. doi: 10.1002/humu.20443. Hum Mutat. 2007. PMID: 17096365
MDM2 as a modifier gene in retinoblastoma.
Castéra L, Sabbagh A, Dehainault C, Michaux D, Mansuet-Lupo A, Patillon B, Lamar E, Aerts I, Lumbroso-Le Rouic L, Couturier J, Stoppa-Lyonnet D, Gauthier-Villars M, Houdayer C. Castéra L, et al. Among authors: couturier j. J Natl Cancer Inst. 2010 Dec 1;102(23):1805-8. doi: 10.1093/jnci/djq416. Epub 2010 Nov 4. J Natl Cancer Inst. 2010. PMID: 21051655
A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation.
Dehainault C, Michaux D, Pagès-Berhouet S, Caux-Moncoutier V, Doz F, Desjardins L, Couturier J, Parent P, Stoppa-Lyonnet D, Gauthier-Villars M, Houdayer C. Dehainault C, et al. Among authors: couturier j. Eur J Hum Genet. 2007 Apr;15(4):473-7. doi: 10.1038/sj.ejhg.5201787. Epub 2007 Feb 14. Eur J Hum Genet. 2007. PMID: 17299438
Fine mapping of whole RB1 gene deletions in retinoblastoma patients confirms PCDH8 as a candidate gene for psychomotor delay.
Castéra L, Dehainault C, Michaux D, Lumbroso-Le Rouic L, Aerts I, Doz F, Pelet A, Couturier J, Stoppa-Lyonnet D, Gauthier-Villars M, Houdayer C. Castéra L, et al. Among authors: couturier j. Eur J Hum Genet. 2013 Apr;21(4):460-4. doi: 10.1038/ejhg.2012.186. Epub 2012 Aug 22. Eur J Hum Genet. 2013. PMID: 22909775 Free PMC article.
Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF.
Houdayer C, Gauthier-Villars M, Laugé A, Pagès-Berhouet S, Dehainault C, Caux-Moncoutier V, Karczynski P, Tosi M, Doz F, Desjardins L, Couturier J, Stoppa-Lyonnet D. Houdayer C, et al. Among authors: couturier j. Hum Mutat. 2004 Feb;23(2):193-202. doi: 10.1002/humu.10303. Hum Mutat. 2004. PMID: 14722923
487 results