Arveiler B - Search Results

1

Dysmorphic features in subtelomeric 20p13 deletion excluding JAG1: a recognizable microdeletion phenotype?

Moutton S, Rooryck C, Toutain J, Cailley D, Bouron J, Villega F, Taupiac E, Lacombe D, Arveiler B, Goizet C. Moutton S, et al. Among authors: arveiler b. Eur J Med Genet. 2012 Feb;55(2):151-5. doi: 10.1016/j.ejmg.2011.12.009. Epub 2012 Jan 5. Eur J Med Genet. 2012. PMID: 22274139

2

Refined localisation of the voltage-gated chloride channel, CLCN3, to 4q33.

Taine L, Coupry I, Boisseau P, Saura R, Lacombe D, Arveiler B. Taine L, et al. Among authors: arveiler b. Hum Genet. 1998 Feb;102(2):178-81. doi: 10.1007/s004390050673. Hum Genet. 1998. PMID: 9521585

3

Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome.

Taine L, Goizet C, Wen ZQ, Petrij F, Breuning MH, Aymé S, Saura R, Arveiler B, Lacombe D. Taine L, et al. Among authors: arveiler b. Am J Med Genet. 1998 Jul 7;78(3):267-70. Am J Med Genet. 1998. PMID: 9677064

4

Case with autistic syndrome and chromosome 22q13.3 deletion detected by FISH.

Goizet C, Excoffier E, Taine L, Taupiac E, El Moneim AA, Arveiler B, Bouvard M, Lacombe D. Goizet C, et al. Among authors: arveiler b. Am J Med Genet. 2000 Dec 4;96(6):839-44. Am J Med Genet. 2000. PMID: 11121193 Review.

5

Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion.

Coupry I, Taine L, Goizet C, Soriano C, Mortemousque B, Arveiler B, Lacombe D. Coupry I, et al. Among authors: arveiler b. J Med Genet. 2001 Jan;38(1):35-8. doi: 10.1136/jmg.38.1.35. J Med Genet. 2001. PMID: 11134238 Free PMC article.

6

Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome.

Coupry I, Roudaut C, Stef M, Delrue MA, Marche M, Burgelin I, Taine L, Cruaud C, Lacombe D, Arveiler B. Coupry I, et al. Among authors: arveiler b. J Med Genet. 2002 Jun;39(6):415-21. doi: 10.1136/jmg.39.6.415. J Med Genet. 2002. PMID: 12070251 Free PMC article. No abstract available.

7

[Costello syndrome: clinical aspects and tumor risk].

Delrue MA, Arveiler B, Lacombe D. Delrue MA, et al. Among authors: arveiler b. Arch Pediatr. 2002 Oct;9(10):1059-63. doi: 10.1016/s0929-693x(02)00058-1. Arch Pediatr. 2002. PMID: 12462839 Review. French.

8

Costello syndrome and neurological abnormalities.

Delrue MA, Chateil JF, Arveiler B, Lacombe D. Delrue MA, et al. Among authors: arveiler b. Am J Med Genet A. 2003 Dec 15;123A(3):301-5. doi: 10.1002/ajmg.a.20330. Am J Med Genet A. 2003. PMID: 14608654 Review.

9

Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophy.

Goizet C, Coupry I, Rooryck C, Taine L, Dormoy V, Lacombe D, Arveiler B. Goizet C, et al. Among authors: arveiler b. Eur J Hum Genet. 2004 Mar;12(3):245-50. doi: 10.1038/sj.ejhg.5201128. Eur J Hum Genet. 2004. PMID: 14722582

10

Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR.

Coupry I, Monnet L, Attia AA, Taine L, Lacombe D, Arveiler B. Coupry I, et al. Among authors: arveiler b. Hum Mutat. 2004 Mar;23(3):278-84. doi: 10.1002/humu.20001. Hum Mutat. 2004. PMID: 14974086

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