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353 results
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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.
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
The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease.
Davignon L, Chauveau C, Julien C, Dill C, Duband-Goulet I, Cabet E, Buendia B, Lilienbaum A, Rendu J, Minot MC, Guichet A, Allamand V, Vadrot N, Fauré J, Odent S, Lazaro L, Leroy JP, Marcorelles P, Dubourg O, Ferreiro A. Davignon L, et al. Among authors: dubourg o. Hum Mol Genet. 2016 Apr 15;25(8):1559-73. doi: 10.1093/hmg/ddw033. Epub 2016 Feb 9. Hum Mol Genet. 2016. PMID: 27008887
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
The influence of the angiotensin I converting enzyme genotype in familial hypertrophic cardiomyopathy varies with the disease gene mutation.
Tesson F, Dufour C, Moolman JC, Carrier L, al-Mahdawi S, Chojnowska L, Dubourg O, Soubrier E, Brink P, Komajda M, Guicheney P, Schwartz K, Feingold J. Tesson F, et al. Among authors: dubourg o. J Mol Cell Cardiol. 1997 Feb;29(2):831-8. doi: 10.1006/jmcc.1996.0332. J Mol Cell Cardiol. 1997. PMID: 9140839
Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease.
Dubourg O, Azzedine H, Verny C, Durosier G, Birouk N, Gouider R, Salih M, Bouhouche A, Thiam A, Grid D, Mayer M, Ruberg M, Tazir M, Brice A, LeGuern E. Dubourg O, et al. Neuromolecular Med. 2006;8(1-2):75-86. doi: 10.1385/nmm:8:1-2:75. Neuromolecular Med. 2006. PMID: 16775368 Review.
Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10.
Bondurand N, Girard M, Pingault V, Lemort N, Dubourg O, Goossens M. Bondurand N, et al. Among authors: dubourg o. Hum Mol Genet. 2001 Nov 15;10(24):2783-95. doi: 10.1093/hmg/10.24.2783. Hum Mol Genet. 2001. PMID: 11734543
First description of germline mosaicism in familial hypertrophic cardiomyopathy.
Forissier JF, Richard P, Briault S, Ledeuil C, Dubourg O, Charbonnier B, Carrier L, Moraine C, Bonne G, Komajda M, Schwartz K, Hainque B. Forissier JF, et al. Among authors: dubourg o. J Med Genet. 2000 Feb;37(2):132-4. doi: 10.1136/jmg.37.2.132. J Med Genet. 2000. PMID: 10662815 Free PMC article.
Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy.
Richard P, Isnard R, Carrier L, Dubourg O, Donatien Y, Mathieu B, Bonne G, Gary F, Charron P, Hagege M, Komajda M, Schwartz K, Hainque B. Richard P, et al. Among authors: dubourg o. J Med Genet. 1999 Jul;36(7):542-5. J Med Genet. 1999. PMID: 10424815 Free PMC article.
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
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