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

374 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria.
Jaglin XH, Poirier K, Saillour Y, Buhler E, Tian G, Bahi-Buisson N, Fallet-Bianco C, Phan-Dinh-Tuy F, Kong XP, Bomont P, Castelnau-Ptakhine L, Odent S, Loget P, Kossorotoff M, Snoeck I, Plessis G, Parent P, Beldjord C, Cardoso C, Represa A, Flint J, Keays DA, Cowan NJ, Chelly J. Jaglin XH, et al. Among authors: odent s. Nat Genet. 2009 Jun;41(6):746-52. doi: 10.1038/ng.380. Epub 2009 May 24. Nat Genet. 2009. PMID: 19465910 Free PMC article.
Molecular analysis of 53 fragile X families with the probe StB12.3.
Puissant H, Malinge MC, Larget-Piet A, Martin D, Chauveau P, Odent S, Plessis G, Parent P, Lemarec B, Larget-Piet L. Puissant H, et al. Among authors: odent s. Am J Med Genet. 1994 Dec 1;53(4):370-3. doi: 10.1002/ajmg.1320530413. Am J Med Genet. 1994. PMID: 7864047
Perinatal-lethal Gaucher disease.
Mignot C, Gelot A, Bessières B, Daffos F, Voyer M, Menez F, Fallet Bianco C, Odent S, Le Duff D, Loget P, Fargier P, Costil J, Josset P, Roume J, Vanier MT, Maire I, Billette de Villemeur T. Mignot C, et al. Among authors: odent s. Am J Med Genet A. 2003 Jul 30;120A(3):338-44. doi: 10.1002/ajmg.a.20117. Am J Med Genet A. 2003. PMID: 12838552
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).
Poirier K, Keays DA, Francis F, Saillour Y, Bahi N, Manouvrier S, Fallet-Bianco C, Pasquier L, Toutain A, Tuy FP, Bienvenu T, Joriot S, Odent S, Ville D, Desguerre I, Goldenberg A, Moutard ML, Fryns JP, van Esch H, Harvey RJ, Siebold C, Flint J, Beldjord C, Chelly J. Poirier K, et al. Among authors: odent s. Hum Mutat. 2007 Nov;28(11):1055-64. doi: 10.1002/humu.20572. Hum Mutat. 2007. PMID: 17584854
Terminal 6.9 Mb deletion of chromosome 15q, associated with a structurally abnormal X chromosome in a patient with congenital diaphragmatic hernia and heart defect.
Jaillard S, Loget P, Lucas J, Dubourg C, Le Bouar G, Demurger F, Bertorello I, David V, Poulain P, Odent S, Belaud-Rotureau MA. Jaillard S, et al. Among authors: odent s. Eur J Med Genet. 2011 Mar-Apr;54(2):186-8. doi: 10.1016/j.ejmg.2010.11.001. Epub 2010 Nov 27. Eur J Med Genet. 2011. PMID: 21115145
374 results