Roux AF - Search Results

1

Mairot K, Smirnov V, Bocquet B, Labesse G, Arndt C, Defoort-Dhellemmes S, Zanlonghi X, Hamroun D, Denis D, Picot MC, David T, Grunewald O, Pégart M, Huguet H, Roux AF, Kalatzis V, Dhaenens CM, Meunier I. Mairot K, et al. Among authors: roux af. Int J Mol Sci. 2021 Nov 23;22(23):12642. doi: 10.3390/ijms222312642. Int J Mol Sci. 2021. PMID: 34884448 Free PMC article.

2

UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes.

Baux D, Faugère V, Larrieu L, Le Guédard-Méreuze S, Hamroun D, Béroud C, Malcolm S, Claustres M, Roux AF. Baux D, et al. Among authors: roux af. Hum Mutat. 2008 Aug;29(8):E76-87. doi: 10.1002/humu.20780. Hum Mutat. 2008. PMID: 18484607

3

Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.

Bocquet B, Lacroux A, Surget MO, Baudoin C, Marquette V, Manes G, Hebrard M, Sénéchal A, Delettre C, Roux AF, Claustres M, Dhaenens CM, Rozet JM, Perrault I, Bonnefont JP, Kaplan J, Dollfus H, Amati-Bonneau P, Bonneau D, Reynier P, Audo I, Zeitz C, Sahel JA, Paquis-Flucklinger V, Calvas P, Arveiler B, Kohl S, Wissinger B, Blanchet C, Meunier I, Hamel CP. Bocquet B, et al. Among authors: roux af. Ophthalmic Epidemiol. 2013;20(1):13-25. doi: 10.3109/09286586.2012.737890. Ophthalmic Epidemiol. 2013. PMID: 23350551

4

Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots.

Baux D, Blanchet C, Hamel C, Meunier I, Larrieu L, Faugère V, Vaché C, Castorina P, Puech B, Bonneau D, Malcolm S, Claustres M, Roux AF. Baux D, et al. Among authors: roux af. Hum Mutat. 2014 Oct;35(10):1179-86. doi: 10.1002/humu.22608. Epub 2014 Jul 15. Hum Mutat. 2014. PMID: 24944099

5

Clinical Evaluation and Cone Alterations in Choroideremia.

Nabholz N, Lorenzini MC, Bocquet B, Lacroux A, Faugère V, Roux AF, Kalatzis V, Meunier I, Hamel CP. Nabholz N, et al. Among authors: roux af. Ophthalmology. 2016 Aug;123(8):1830-1832. doi: 10.1016/j.ophtha.2016.02.025. Epub 2016 Mar 15. Ophthalmology. 2016. PMID: 26992839 No abstract available.

6

Pathogenicity of a novel missense variant associated with choroideremia and its impact on gene replacement therapy.

Torriano S, Erkilic N, Faugère V, Damodar K, Hamel CP, Roux AF, Kalatzis V. Torriano S, et al. Among authors: roux af. Hum Mol Genet. 2017 Sep 15;26(18):3573-3584. doi: 10.1093/hmg/ddx244. Hum Mol Genet. 2017. PMID: 28911202

7

The effect of PTC124 on choroideremia fibroblasts and iPSC-derived RPE raises considerations for therapy.

Torriano S, Erkilic N, Baux D, Cereso N, De Luca V, Meunier I, Moosajee M, Roux AF, Hamel CP, Kalatzis V. Torriano S, et al. Among authors: roux af. Sci Rep. 2018 May 29;8(1):8234. doi: 10.1038/s41598-018-26481-7. Sci Rep. 2018. PMID: 29844446 Free PMC article.

8

Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses.

Vaché C, Torriano S, Faugère V, Erkilic N, Baux D, Garcia-Garcia G, Hamel CP, Meunier I, Zanlonghi X, Koenig M, Kalatzis V, Roux AF. Vaché C, et al. Among authors: roux af. Hum Mutat. 2019 Jan;40(1):31-35. doi: 10.1002/humu.23671. Epub 2018 Nov 8. Hum Mutat. 2019. PMID: 30341801

9

Genome Editing in Patient iPSCs Corrects the Most Prevalent USH2A Mutations and Reveals Intriguing Mutant mRNA Expression Profiles.

Sanjurjo-Soriano C, Erkilic N, Baux D, Mamaeva D, Hamel CP, Meunier I, Roux AF, Kalatzis V. Sanjurjo-Soriano C, et al. Among authors: roux af. Mol Ther Methods Clin Dev. 2019 Nov 27;17:156-173. doi: 10.1016/j.omtm.2019.11.016. eCollection 2020 Jun 12. Mol Ther Methods Clin Dev. 2019. PMID: 31909088 Free PMC article.

10

Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration.

Sacristan-Reviriego A, Le HM, Georgiou M, Meunier I, Bocquet B, Roux AF, Prodromou C, Bainbridge J, Michaelides M, van der Spuy J. Sacristan-Reviriego A, et al. Among authors: roux af. Sci Rep. 2020 Oct 16;10(1):17520. doi: 10.1038/s41598-020-74516-9. Sci Rep. 2020. PMID: 33067476 Free PMC article.

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