Bonneau D - Search Results

1

Mutations of the human PTEN gene.

Bonneau D, Longy M. Bonneau D, et al. Hum Mutat. 2000;16(2):109-22. doi: 10.1002/1098-1004(200008)16:2<109::AID-HUMU3>3.0.CO;2-0. Hum Mutat. 2000. PMID: 10923032 Review.

2

W syndrome: report of three cases and review.

Goizet C, Bonneau D, Lacombe D. Goizet C, et al. Among authors: bonneau d. Am J Med Genet. 1999 Dec 22;87(5):446-9. Am J Med Genet. 1999. PMID: 10594887 Review.

3

Splenogonadal fusion limb defect syndrome: report of five new cases and review.

Bonneau D, Roume J, Gonzalez M, Toutain A, Carles D, Maréchaud M, Biran-Mucignat V, Amati P, Moraine C. Bonneau D, et al. Am J Med Genet. 1999 Oct 8;86(4):347-58. doi: 10.1002/(sici)1096-8628(19991008)86:4<347::aid-ajmg9>3.0.co;2-a. Am J Med Genet. 1999. PMID: 10494091 Review.

4

Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.

Longy M, Coulon V, Duboué B, David A, Larrègue M, Eng C, Amati P, Kraimps JL, Bottani A, Lacombe D, Bonneau D. Longy M, et al. Among authors: bonneau d. J Med Genet. 1998 Nov;35(11):886-9. doi: 10.1136/jmg.35.11.886. J Med Genet. 1998. PMID: 9832032 Free PMC article.

5

Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.

Muller J, Stoetzel C, Vincent MC, Leitch CC, Laurier V, Danse JM, Hellé S, Marion V, Bennouna-Greene V, Vicaire S, Megarbane A, Kaplan J, Drouin-Garraud V, Hamdani M, Sigaudy S, Francannet C, Roume J, Bitoun P, Goldenberg A, Philip N, Odent S, Green J, Cossée M, Davis EE, Katsanis N, Bonneau D, Verloes A, Poch O, Mandel JL, Dollfus H. Muller J, et al. Among authors: bonneau d. Hum Genet. 2010 Mar;127(5):583-93. doi: 10.1007/s00439-010-0804-9. Epub 2010 Feb 23. Hum Genet. 2010. PMID: 20177705 Free PMC article.

6

Molecular heterogeneity in fetal forms of type II lissencephaly.

Bouchet C, Gonzales M, Vuillaumier-Barrot S, Devisme L, Lebizec C, Alanio E, Bazin A, Bessières-Grattagliano B, Bigi N, Blanchet P, Bonneau D, Bonnières M, Carles D, Delahaye S, Fallet-Bianco C, Figarella-Branger D, Gaillard D, Gasser B, Guimiot F, Joubert M, Laurent N, Liprandi A, Loget P, Marcorelles P, Martinovic J, Menez F, Patrier S, Pelluard-Nehmé F, Perez MJ, Rouleau-Dubois C, Triau S, Laquerrière A, Encha-Razavi F, Seta N. Bouchet C, et al. Among authors: bonneau d. Hum Mutat. 2007 Oct;28(10):1020-7. doi: 10.1002/humu.20561. Hum Mutat. 2007. PMID: 17559086

7

Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa.

Souied E, Gerber S, Rozet JM, Bonneau D, Dufier JL, Ghazi I, Philip N, Soubrane G, Coscas G, Munnich A, et al. Souied E, et al. Among authors: bonneau d. Hum Mol Genet. 1994 Aug;3(8):1433-4. doi: 10.1093/hmg/3.8.1433. Hum Mol Genet. 1994. PMID: 7987331 No abstract available.

8

A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23.

Amati P, Chomel JC, Nivelon-Chevalier A, Gilgenkrantz S, Kitzis A, Kaplan J, Bonneau D. Amati P, et al. Among authors: bonneau d. Hum Genet. 1995 Aug;96(2):213-5. doi: 10.1007/BF00207381. Hum Genet. 1995. PMID: 7635472

9

[Cowden's disease in an adolescent].

Mcheik JN, Vabres P, Bonneau D, Longy M, Levard G. Mcheik JN, et al. Among authors: bonneau d. Ann Chir. 2002 Feb;127(2):138-41. doi: 10.1016/s0003-3944(01)00690-3. Ann Chir. 2002. PMID: 11885374 French.

10

A gene predisposing to familial thyroid tumors with cell oxyphilia maps to chromosome 19p13.2.

Canzian F, Amati P, Harach HR, Kraimps JL, Lesueur F, Barbier J, Levillain P, Romeo G, Bonneau D. Canzian F, et al. Among authors: bonneau d. Am J Hum Genet. 1998 Dec;63(6):1743-8. doi: 10.1086/302164. Am J Hum Genet. 1998. PMID: 9837827 Free PMC article.

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