Coupry I - Search Results

1

Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi syndrome patients.

Stef M, Simon D, Mardirossian B, Delrue MA, Burgelin I, Hubert C, Marche M, Bonnet F, Gorry P, Longy M, Lacombe D, Coupry I, Arveiler B. Stef M, et al. Among authors: coupry i. Eur J Hum Genet. 2007 Aug;15(8):843-7. doi: 10.1038/sj.ejhg.5201847. Epub 2007 May 2. Eur J Hum Genet. 2007. PMID: 17473832

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: coupry i. Hum Genet. 1998 Feb;102(2):178-81. doi: 10.1007/s004390050673. Hum Genet. 1998. PMID: 9521585

3

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. 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.

4

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. 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.

5

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: coupry i. Eur J Hum Genet. 2004 Mar;12(3):245-50. doi: 10.1038/sj.ejhg.5201128. Eur J Hum Genet. 2004. PMID: 14722582

6

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. Hum Mutat. 2004 Mar;23(3):278-84. doi: 10.1002/humu.20001. Hum Mutat. 2004. PMID: 14974086

7

Ancestral origins of the prion protein gene D178N mutation in the Basque Country.

Rodríguez-Martínez AB, Barreau C, Coupry I, Yagüe J, Sánchez-Valle R, Galdós-Alcelay L, Ibáñez A, Digón A, Fernández-Manchola I, Goizet C, Castro A, Cuevas N, Alvarez-Alvarez M, de Pancorbo MM, Arveiler B, Zarranz JJ. Rodríguez-Martínez AB, et al. Among authors: coupry i. Hum Genet. 2005 Jun;117(1):61-9. doi: 10.1007/s00439-005-1277-0. Epub 2005 Apr 2. Hum Genet. 2005. PMID: 15806397

8

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: coupry i. 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

9

COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.

Sibon I, Coupry I, Menegon P, Bouchet JP, Gorry P, Burgelin I, Calvas P, Orignac I, Dousset V, Lacombe D, Orgogozo JM, Arveiler B, Goizet C. Sibon I, et al. Among authors: coupry i. Ann Neurol. 2007 Aug;62(2):177-84. doi: 10.1002/ana.21191. Ann Neurol. 2007. PMID: 17696175

10

Detection of an intragenic deletion expands the spectrum of CTSC mutations in Papillon-Lefèvre syndrome.

Jouary T, Goizet C, Coupry I, Redonnet-Vernhet I, Levade T, Burgelin I, Toutain A, Delaporte E, Douillard C, Lacombe D, Taieb A, Arveiler B. Jouary T, et al. Among authors: coupry i. J Invest Dermatol. 2008 Feb;128(2):322-5. doi: 10.1038/sj.jid.5700987. Epub 2007 Oct 18. J Invest Dermatol. 2008. PMID: 17943190 Free article.

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