Arveiler B - Search Results

1

Deletion in 2q35 excluding the IHH gene leads to fetal severe limb anomalies and suggests a disruption of chromatin architecture.

Trimouille A, Tingaud-Sequeira A, Pennamen P, André G, Bouron J, Boucher C, Fergelot P, Lacombe D, Arveiler B, Rooryck C. Trimouille A, et al. Among authors: arveiler b. Eur J Hum Genet. 2019 Mar;27(3):384-388. doi: 10.1038/s41431-018-0290-4. Epub 2018 Oct 29. Eur J Hum Genet. 2019. PMID: 30374058 Free PMC article.

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

[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.

7

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.

8

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

9

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

10

X-linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia.

Chassaing N, Siani V, Carles D, Delezoide AL, Alberti EM, Battin J, Chateil JF, Gilbert-Dussardier B, Coupry I, Arveiler B, Saura R, Lacombe D. Chassaing N, et al. Among authors: arveiler b. Am J Med Genet A. 2005 Aug 1;136A(4):307-12. doi: 10.1002/ajmg.a.30570. Am J Med Genet A. 2005. PMID: 16001442

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