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Xavier Zanlonghi

Showing results (21-30 of 58) with videos related to

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European Journal of Human Genetics : EJHG|December 1, 2011
Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?Nathalie Delphin, Sylvain Hanein, Lucas Fares Taie, et al.
Orphanet Journal of Rare Diseases|September 11, 2019
OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome databaseBastien Le Roux, Guy Lenaers, Xavier Zanlonghi, et al.
Investigative Ophthalmology & Visual Science|February 19, 2010
Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patientsIsabelle Audo, Gaël Manes, Saddek Mohand-Saïd, et al.
Genes|April 28, 2023
Mutational Spectrum, Ocular and Olfactory Phenotypes of <i>CNGB1</i>-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic CohortSara Geada, Francisco Teixeira-Marques, Bruno Teixeira, et al.
Journal of Medical Genetics|December 30, 2016
Compound heterozygosity for severe and hypomorphic <i>NDUFS2</i> mutations cause non-syndromic LHON-like optic neuropathySylvie Gerber, Martina G Ding, Xavier Gérard, et al.
Human Mutation|March 26, 2009
Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutationsMarc Ferré, Dominique Bonneau, Dan Milea, et al.
American Journal of Medical Genetics. Part A|June 11, 2015
Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variantMajida Charif, Salah Mohamed Cherif Titah, Agathe Roubertie, et al.
Ophthalmology Science|October 17, 2022
Retinitis Punctata Albescens and <i>RLBP1</i>-Allied Phenotypes: Phenotype-Genotype Correlation and Natural History in the Aim of Gene TherapyBéatrice Bocquet, Hicham El Alami Trebki, Anne Françoise Roux, et al.
Research Square|February 26, 2024
Coding and non-coding variants in the ciliopathy gene <i>CFAP410</i> cause early-onset non-syndromic retinal degenerationRiccardo Sangermano, Priya Gupta, Cherrell Price, et al.
International Journal of Molecular Sciences|December 10, 2021
<i>CRB1</i>-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor <i>CRB1</i> IsoformsKévin Mairot, Vasily Smirnov, Béatrice Bocquet, et al.
Pageof 6

Showing results (21-30 of 58) with videos related to

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Pageof 6
European Journal of Human Genetics : EJHG|December 1, 2011
Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?Nathalie Delphin, Sylvain Hanein, Lucas Fares Taie, et al.
Orphanet Journal of Rare Diseases|September 11, 2019
OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome databaseBastien Le Roux, Guy Lenaers, Xavier Zanlonghi, et al.
Investigative Ophthalmology & Visual Science|February 19, 2010
Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patientsIsabelle Audo, Gaël Manes, Saddek Mohand-Saïd, et al.
Genes|April 28, 2023
Mutational Spectrum, Ocular and Olfactory Phenotypes of <i>CNGB1</i>-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic CohortSara Geada, Francisco Teixeira-Marques, Bruno Teixeira, et al.
Journal of Medical Genetics|December 30, 2016
Compound heterozygosity for severe and hypomorphic <i>NDUFS2</i> mutations cause non-syndromic LHON-like optic neuropathySylvie Gerber, Martina G Ding, Xavier Gérard, et al.
Human Mutation|March 26, 2009
Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutationsMarc Ferré, Dominique Bonneau, Dan Milea, et al.
American Journal of Medical Genetics. Part A|June 11, 2015
Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variantMajida Charif, Salah Mohamed Cherif Titah, Agathe Roubertie, et al.
Ophthalmology Science|October 17, 2022
Retinitis Punctata Albescens and <i>RLBP1</i>-Allied Phenotypes: Phenotype-Genotype Correlation and Natural History in the Aim of Gene TherapyBéatrice Bocquet, Hicham El Alami Trebki, Anne Françoise Roux, et al.
Research Square|February 26, 2024
Coding and non-coding variants in the ciliopathy gene <i>CFAP410</i> cause early-onset non-syndromic retinal degenerationRiccardo Sangermano, Priya Gupta, Cherrell Price, et al.
International Journal of Molecular Sciences|December 10, 2021
<i>CRB1</i>-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor <i>CRB1</i> IsoformsKévin Mairot, Vasily Smirnov, Béatrice Bocquet, et al.
Pageof 6