Bourdon V - Search Results

1

MECP2 mutations or polymorphisms in mentally retarded boys: diagnostic implications.

Bourdon V, Philippe C, Martin D, Verloès A, Grandemenge A, Jonveaux P. Bourdon V, et al. Mol Diagn. 2003;7(1):3-7. doi: 10.1007/BF03260014. Mol Diagn. 2003. PMID: 14529314

2

Deletion screening by fluorescence in situ hybridization in Rett syndrome patients.

Bourdon V, Philippe C, Grandemenge A, Reichwald K, Jonveaux P. Bourdon V, et al. Ann Genet. 2001 Oct-Dec;44(4):191-4. doi: 10.1016/s0003-3995(01)01088-7. Ann Genet. 2001. PMID: 11755104

3

Spectrum of MECP2 mutations in Rett syndrome.

Bienvenu T, Villard L, De Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J; French Consortium for MECP2 Gene Analysis. Bienvenu T, et al. Among authors: bourdon v. Genet Test. 2002 Spring;6(1):1-6. doi: 10.1089/109065702760093843. Genet Test. 2002. PMID: 12180070

4

A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients.

Bourdon V, Philippe C, Labrune O, Amsallem D, Arnould C, Jonveaux P. Bourdon V, et al. Hum Genet. 2001 Jan;108(1):43-50. doi: 10.1007/s004390000422. Hum Genet. 2001. PMID: 11214906

5

The signal transducer and activator of transcription STAT5b gene is a new partner of retinoic acid receptor alpha in acute promyelocytic-like leukaemia.

Arnould C, Philippe C, Bourdon V, Gr goire MJ, Berger R, Jonveaux P. Arnould C, et al. Among authors: bourdon v. Hum Mol Genet. 1999 Sep;8(9):1741-9. doi: 10.1093/hmg/8.9.1741. Hum Mol Genet. 1999. PMID: 10441338

6

Evidence of somatic mosaicism for a MECP2 mutation in females with Rett syndrome: diagnostic implications.

Bourdon V, Philippe C, Bienvenu T, Koenig B, Tardieu M, Chelly J, Jonveaux P. Bourdon V, et al. J Med Genet. 2001 Dec;38(12):867-71. doi: 10.1136/jmg.38.12.867. J Med Genet. 2001. PMID: 11768391 Free PMC article. No abstract available.

7

Chromosome imbalances in oligodendroglial tumors detected by comparative genomic hybridization.

Bourdon V, Plessis G, Chapon F, Guarnieri J, Derlon JM, Jonveaux P. Bourdon V, et al. Ann Genet. 2004 Apr-Jun;47(2):105-11. doi: 10.1016/j.anngen.2003.10.002. Ann Genet. 2004. PMID: 15183742

8

T-cell immune constitution after peripheral blood mononuclear cell transplantation in complete DiGeorge syndrome.

Bensoussan D, Le Deist F, Latger-Cannard V, Grégoire MJ, Avinens O, Feugier P, Bourdon V, André-Botté C, Schmitt C, Jonveaux P, Eliaou JF, Stoltz JF, Bordigoni P. Bensoussan D, et al. Among authors: bourdon v. Br J Haematol. 2002 Jun;117(4):899-906. doi: 10.1046/j.1365-2141.2002.03496.x. Br J Haematol. 2002. PMID: 12060129 Free article.

9

BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.

Spurdle AB, Whiley PJ, Thompson B, Feng B, Healey S, Brown MA, Pettigrew C; kConFab; Van Asperen CJ, Ausems MG, Kattentidt-Mouravieva AA, van den Ouweland AM; Dutch Belgium UV Consortium; Lindblom A, Pigg MH, Schmutzler RK, Engel C, Meindl A; German Consortium of Hereditary Breast and Ovarian Cancer; Caputo S, Sinilnikova OM, Lidereau R; French COVAR group collaborators; Couch FJ, Guidugli L, Hansen Tv, Thomassen M, Eccles DM, Tucker K, Benitez J, Domchek SM, Toland AE, Van Rensburg EJ, Wappenschmidt B, Borg Å, Vreeswijk MP, Goldgar DE; ENIGMA Consortium. Spurdle AB, et al. J Med Genet. 2012 Aug;49(8):525-32. doi: 10.1136/jmedgenet-2012-101037. J Med Genet. 2012. PMID: 22889855 Free PMC article.

10

The contribution of germline rearrangements to the spectrum of BRCA2 mutations.

Casilli F, Tournier I, Sinilnikova OM, Coulet F, Soubrier F, Houdayer C, Hardouin A, Berthet P, Sobol H, Bourdon V, Muller D, Fricker JP, Capoulade-Metay C, Chompret A, Nogues C, Mazoyer S, Chappuis P, Maillet P, Philippe C, Lortholary A, Gesta P, Bézieau S, Toulas C, Gladieff L, Maugard CM, Provencher DM, Dugast C, Delvincourt C, Nguyen TD, Faivre L, Bonadona V, Frébourg T, Lidereau R, Stoppa-Lyonnet D, Tosi M. Casilli F, et al. Among authors: bourdon v. J Med Genet. 2006 Sep;43(9):e49. doi: 10.1136/jmg.2005.040212. J Med Genet. 2006. PMID: 16950820 Free PMC article.

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