Dubourg O - Search Results

1

The gene for spinal cerebellar ataxia 3 (SCA3) is located in a region of approximately 3 cM on chromosome 14q24.3-q32.2.

Stevanin G, Cancel G, Dürr A, Chneiweiss H, Dubourg O, Weissenbach J, Cann HM, Agid Y, Brice A. Stevanin G, et al. Among authors: dubourg o. Am J Hum Genet. 1995 Jan;56(1):193-201. Am J Hum Genet. 1995. PMID: 7825578 Free PMC article.

2

Analysis of the SCA1 CAG repeat in a large number of families with dominant ataxia: clinical and molecular correlations.

Dubourg O, Dürr A, Cancel G, Stevanin G, Chneiweiss H, Penet C, Agid Y, Brice A. Dubourg O, et al. Ann Neurol. 1995 Feb;37(2):176-80. doi: 10.1002/ana.410370207. Ann Neurol. 1995. PMID: 7847859

3

The gene for Machado-Joseph disease maps to the same 3-cM interval as the spinal cerebellar ataxia 3 gene on chromosome 14q.

Stevanin G, Sousa PS, Cancel G, Dürr A, Dubourg O, Nicholson GA, Weissenbach J, Jardim E, Agid Y, Cassa E, et al. Stevanin G, et al. Among authors: dubourg o. Neurobiol Dis. 1994 Nov;1(1-2):79-82. doi: 10.1006/nbdi.1994.0010. Neurobiol Dis. 1994. PMID: 9216989

4

A second locus for Marfan syndrome maps to chromosome 3p24.2-p25.

Collod G, Babron MC, Jondeau G, Coulon M, Weissenbach J, Dubourg O, Bourdarias JP, Bonaïti-Pellié C, Junien C, Boileau C. Collod G, et al. Among authors: dubourg o. Nat Genet. 1994 Nov;8(3):264-8. doi: 10.1038/ng1194-264. Nat Genet. 1994. PMID: 7632217 Free PMC article.

5

[Does the ataxo-choreic form of DRPLA exist in Europe? Search of mutation in 120 families].

Dubourg O, Dürr A, Chneiweiss H, Stevanin G, Cancel G, Penet C, Agid Y, Brice A. Dubourg O, et al. Rev Neurol (Paris). 1995 Nov;151(11):657-60. Rev Neurol (Paris). 1995. PMID: 8745629 French.

6

Exclusion of genes coding for proteins of the cytoskeleton and the extracellular matrix in familial hypertrophic cardiomyopathy using a candidate gene approach.

Dufour C, Carrier L, Hengstenberg C, Bercovici J, Dausse E, Weissenbach J, Dubourg O, Komajda M, Schwartz K, Beckmann JS. Dufour C, et al. Among authors: dubourg o. C R Acad Sci III. 1993;316(5):474-81. C R Acad Sci III. 1993. PMID: 8221230

7

Rapid detection of 17p11.2 rearrangements by FISH without cell culture (direct FISH, DFISH): a prospective study of 130 patients with inherited peripheral neuropathies.

Ravisé N, Dubourg O, Tardieu S, Aurias F, Mercadiel M, Coullin P, Ruberg M, Catala M, Lesourd S, Brice A, LeGuern E. Ravisé N, et al. Among authors: dubourg o. Am J Med Genet A. 2003 Apr 1;118A(1):43-8. doi: 10.1002/ajmg.a.10190. Am J Med Genet A. 2003. PMID: 12605439

8

Detection of genomic rearrangements by DHPLC: a prospective study of 90 patients with inherited peripheral neuropathies associated with 17p11.2 rearrangements.

Naïmi M, Tardieu S, Depienne C, Ruberg M, Brice A, Dubourg O, Leguern E. Naïmi M, et al. Among authors: dubourg o. Am J Med Genet A. 2005 Jul 15;136(2):136-9. doi: 10.1002/ajmg.a.30790. Am J Med Genet A. 2005. PMID: 15940694

9

Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes.

Boileau C, Jondeau G, Babron MC, Coulon M, Alexandre JA, Sakai L, Melki J, Delorme G, Dubourg O, Bonaïti-Pellié C, et al. Boileau C, et al. Among authors: dubourg o. Am J Hum Genet. 1993 Jul;53(1):46-54. Am J Hum Genet. 1993. PMID: 8317497 Free PMC article.

10

Phenotypic and genetic study of a family with hereditary sensory neuropathy and prominent weakness.

Dubourg O, Barhoumi C, Azzedine H, Birouk N, Brice A, Bouche P, Leguern E. Dubourg O, et al. Muscle Nerve. 2000 Oct;23(10):1508-14. doi: 10.1002/1097-4598(200010)23:10<1508::aid-mus6>3.0.co;2-d. Muscle Nerve. 2000. PMID: 11003785

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