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Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.
Baux D, Vaché C, Blanchet C, Willems M, Baudoin C, Moclyn M, Faugère V, Touraine R, Isidor B, Dupin-Deguine D, Nizon M, Vincent M, Mercier S, Calais C, García-García G, Azher Z, Lambert L, Perdomo-Trujillo Y, Giuliano F, Claustres M, Koenig M, Mondain M, Roux AF. Baux D, et al. Among authors: roux af. Sci Rep. 2017 Dec 1;7(1):16783. doi: 10.1038/s41598-017-16846-9. Sci Rep. 2017. PMID: 29196752 Free PMC article.
Audiological findings in 100 USH2 patients.
Abadie C, Blanchet C, Baux D, Larrieu L, Besnard T, Ravel P, Biboulet R, Hamel C, Malcolm S, Mondain M, Claustres M, Roux AF. Abadie C, et al. Among authors: roux af. Clin Genet. 2012 Nov;82(5):433-8. doi: 10.1111/j.1399-0004.2011.01772.x. Epub 2011 Sep 30. Clin Genet. 2012. PMID: 21895633
Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach.
Liautard-Haag C, Durif G, VanGoethem C, Baux D, Louis A, Cayrefourcq L, Lamairia M, Willems M, Zordan C, Dorian V, Rooryck C, Goizet C, Chaussenot A, Monteil L, Calvas P, Miry C, Favre R, Le Boette E, Fradin M, Roux AF, Cossée M, Koenig M, Alix-Panabière C, Guissart C, Vincent MC. Liautard-Haag C, et al. Among authors: roux af. Sci Rep. 2022 Jul 6;12(1):11423. doi: 10.1038/s41598-022-15307-2. Sci Rep. 2022. PMID: 35794169 Free PMC article.
[Genetic mutation databases: stakes and perspectives for orphan genetic diseases].
Humbertclaude V, Tuffery-Giraud S, Bareil C, Thèze C, Paulet D, Desmet FO, Hamroun D, Baux D, Girardet A, Collod-Béroud G, Khau Van Kien P, Roux AF, des Georges M, Béroud C, Claustres M. Humbertclaude V, et al. Among authors: roux af. Pathol Biol (Paris). 2010 Oct;58(5):387-95. doi: 10.1016/j.patbio.2009.09.008. Epub 2009 Dec 1. Pathol Biol (Paris). 2010. PMID: 19954899 Free article. Review. French.
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.
Roux AF, Faugère V, Le Guédard S, Pallares-Ruiz N, Vielle A, Chambert S, Marlin S, Hamel C, Gilbert B, Malcolm S, Claustres M; French Usher Syndrome Collaboration. Roux AF, et al. J Med Genet. 2006 Sep;43(9):763-8. doi: 10.1136/jmg.2006.041954. Epub 2006 May 5. J Med Genet. 2006. PMID: 16679490 Free PMC article.
[Molecular updates on Usher syndrome].
Roux AF. Roux AF. J Fr Ophtalmol. 2005 Jan;28(1):93-7. doi: 10.1016/s0181-5512(05)81030-7. J Fr Ophtalmol. 2005. PMID: 15767904 Review. French.
Loss of function of Ywhah in mice induces deafness and cochlear outer hair cells' degeneration.
Buret L, Rebillard G, Brun E, Angebault C, Pequignot M, Lenoir M, Do-Cruzeiro M, Tournier E, Cornille K, Saleur A, Gueguen N, Reynier P, Amati-Bonneau P, Barakat A, Blanchet C, Chinnery P, Yu-Wai-Man P, Kaplan J, Roux AF, Van Camp G, Wissinger B, Boespflug-Tanguy O, Giraudet F, Puel JL, Lenaers G, Hamel C, Delprat B, Delettre C. Buret L, et al. Among authors: roux af. Cell Death Discov. 2016 Mar 7;2:16017. doi: 10.1038/cddiscovery.2016.17. Cell Death Discov. 2016. PMID: 27275396 Free PMC article.
The phenotypic spectrum of CEP250 gene variants.
Courdier C, Dhaenens CM, Grunewald O, Guerrot AM, Audo I, Lecleire-Collet A, Amstutz-Montadert I, Gad S, Lapeyre G, Zanlonghi X, Bonneau D, Fradin M, Le Meur G, Marlin S, Blanc P, Roux AF, Meunier I, Michaud V. Courdier C, et al. Among authors: roux af. Ophthalmic Genet. 2024 Nov 28:1-8. doi: 10.1080/13816810.2024.2434045. Online ahead of print. Ophthalmic Genet. 2024. PMID: 39610034
97 results