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Characterization of SSBP1-related optic atrophy and foveopathy
Author / Creator:Meunier, Isabelle ; Bocquet, Béatrice ; Defoort-Dhellemmes, Sabine ; Smirnov, Vasily ; Arndt, Carl ; Picot, Marie Christine ; Dollfus, Hélène ; Charif, Majida ; Audo, Isabelle ; Huguet, Hélèna ; Zanlonghi, Xavier ; Lenaers, Guy
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2021-09, Vol.11 (1), p.18703-18703, Article 18703
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Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa
Author / Creator:Olivier, Guillaume ; Corton, Marta ; Intartaglia, Daniela ; Verbakel, Sanne K ; Sergouniotis, Panagiotis I ; Le Meur, Guylène ; Dhaenens, Claire-Marie ; Naacke, Hélène ; Avila-Fernández, Almudena ; Hoyng, Carel B ; Klevering, Jeroen ; Bocquet, Béatrice ; Roubertie, Agathe ; Sénéchal, Audrey ; Banfi, Sandro ; Muller, Agnès ; Hamel, Christian L ; Black, Graeme C ; Conte, Ivan ; Roosing, Susanne ; Zanlonghi, Xavier ; Ayuso, Carmen ; Meunier, Isabelle ; Manes, Gaël
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2021-08, Vol.58 (8), p.570-578
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Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy
Author / Creator:Piro-Mégy, Camille ; Sarzi, Emmanuelle ; Tarrés-Solé, Aleix ; Péquignot, Marie ; Hensen, Fenna ; Quilès, Mélanie ; Manes, Gaël ; Chakraborty, Arka ; Sénéchal, Audrey ; Bocquet, Béatrice ; Cazevieille, Chantal ; Roubertie, Agathe ; Müller, Agnès ; Charif, Majida ; Goudenège, David ; Lenaers, Guy ; Wilhelm, Helmut ; Kellner, Ulrich ; Weisschuh, Nicole ; Wissinger, Bernd ; Zanlonghi, Xavier ; Hamel, Christian ; Spelbrink, Johannes N. ; Sola, Maria ; Delettre, Cécile
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2020-01, Vol.130 (1), p.143-156
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CRB1-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms
Author / Creator:Mairot, Kévin ; Smirnov, Vasily ; Bocquet, Béatrice ; Labesse, Gilles ; Arndt, Carl ; Defoort-Dhellemmes, Sabine ; Zanlonghi, Xavier ; Hamroun, Dalil ; Denis, Danièle ; Picot, Marie-Christine ; David, Thierry ; Grunewald, Olivier ; Pégart, Mako ; Huguet, Hélèna ; Roux, Anne-Françoise ; Kalatzis, Vasiliki ; Dhaenens, Claire-Marie ; Meunier, Isabelle
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2021-11, Vol.22 (23), p.12642
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Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration
Author / Creator:Sacristan-Reviriego, Almudena ; Le, Hoang Mai ; Georgiou, Michalis ; Meunier, Isabelle ; Bocquet, Beatrice ; Roux, Anne-Françoise ; Prodromou, Chrisostomos ; Bainbridge, James ; Michaelides, Michel ; van der Spuy, Jacqueline
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2020-10, Vol.10 (1), p.17520-17520, Article 17520
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A Truncated Form of Rod Photoreceptor PDE6 β-Subunit Causes Autosomal Dominant Congenital Stationary Night Blindness by Interfering with the Inhibitory Activity of the γ-Subunit
Author / Creator:Manes, Gaël ; Cheguru, Pallavi ; Majumder, Anurima ; Bocquet, Béatrice ; Sénéchal, Audrey ; Artemyev, Nikolai O. ; Hamel, Christian P. ; Brabet, Philippe
Publisher:United States: Public Library of Science
Journal title:PloS one, 2014-04, Vol.9 (4), p.e95768-e95768
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Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants
Author / Creator:Poncet, Anaïs F. ; Grunewald, Olivier ; Vaclavik, Veronika ; Meunier, Isabelle ; Drumare, Isabelle ; Pelletier, Valérie ; Bocquet, Béatrice ; Todorova, Margarita G. ; Le Moing, Anne-Gaëlle ; Devos, Aurore ; Schorderet, Daniel F. ; Jobic, Florence ; Defoort-Dhellemmes, Sabine ; Dollfus, Hélène ; Smirnov, Vasily M. ; Dhaenens, Claire-Marie
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2022-04, Vol.23 (8), p.4294
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Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy
Author / Creator:Smirnov, Vasily ; Grunewald, Olivier ; Muller, Jean ; Zeitz, Christina ; Obermaier, Carolin D. ; Devos, Aurore ; Pelletier, Valérie ; Bocquet, Béatrice ; Andrieu, Camille ; Bacquet, Jean-Louis ; Lebredonchel, Elodie ; Mohand-Saïd, Saddek ; Defoort-Dhellemmes, Sabine ; Sahel, José-Alain ; Dollfus, Hélène ; Zanlonghi, Xavier ; Audo, Isabelle ; Meunier, Isabelle ; Boulanger-Scemama, Elise ; Dhaenens, Claire-Marie
Publisher:Basel: MDPI AG
Journal title:International journal of molecular sciences, 2021-06, Vol.22 (12), p.6410
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Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort
Author / Creator:Perrault, Isabelle ; Hanein, Sylvain ; Gérard, Xavier ; Mounguengue, Nelson ; Bouyakoub, Ryme ; Zarhrate, Mohammed ; Fourrage, Cécile ; Jabot-Hanin, Fabienne ; Bocquet, Béatrice ; Meunier, Isabelle ; Zanlonghi, Xavier ; Kaplan, Josseline ; Rozet, Jean-Michel
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2021-02, Vol.12 (2), p.287
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A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene
Author / Creator:Meunier, Isabelle ; Bocquet, Béatrice ; Labesse, Gilles ; Zeitz, Christina ; Defoort-Dhellemmes, Sabine ; Lacroux, Annie ; Mauget-Faysse, Martine ; Drumare, Isabelle ; Gamez, Anne-Sophie ; Mathieu, Cyril ; Marquette, Virginie ; Sagot, Lola ; Dhaenens, Claire-Marie ; Arndt, Carl ; Carroll, Patrick ; Remy-Jardin, Martine ; Cohen, Salomon Yves ; Sahel, José-Alain ; Puech, Bernard ; Audo, Isabelle ; Mrejen, Sarah ; Hamel, Christian P.
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2016-09, Vol.6 (1), p.32544-32544, Article 32544
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Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia
Author / Creator:Chassine, Thomas ; Bocquet, Béatrice ; Daien, Vincent ; Avila-Fernandez, Almudena ; Ayuso, Carmen ; Collin, Rob WJ ; Corton, Marta ; Hejtmancik, J Fielding ; van den Born, L Ingeborgh ; Klevering, B Jeroen ; Riazuddin, S Amer ; Sendon, Nathacha ; Lacroux, Annie ; Meunier, Isabelle ; Hamel, Christian P
Publisher:England: BMJ Publishing Group LTD
Journal title:British journal of ophthalmology, 2015-10, Vol.99 (10), p.1360-1365
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Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes
Author / Creator:Astuti, Galuh ; Van den Born, L. ; Khan, M. ; Hamel, Christian ; Bocquet, Béatrice ; Manes, Gaël ; Quinodoz, Mathieu ; Ali, Manir ; Toomes, Carmel ; McKibbin, Martin ; El-Asrag, Mohammed ; Haer-Wigman, Lonneke ; Inglehearn, Chris ; Black, Graeme ; Hoyng, Carel ; Cremers, Frans ; Roosing, Susanne
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2018-01, Vol.9 (1), p.21
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Combining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa families
Author / Creator:Hebrard, Maxime ; Manes, Gaël ; Bocquet, Béatrice ; Meunier, Isabelle ; Coustes-Chazalette, Delphine ; Hérald, Emilie ; Sénéchal, Audrey ; Bolland-Augé, Anne ; Zelenika, Diana ; Hamel, Christian P
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2011-12, Vol.19 (12), p.1256-1263
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Genome Editing as a Treatment for the Most Prevalent Causative Genes of Autosomal Dominant Retinitis Pigmentosa
Author / Creator:Diakatou, Michalitsa ; Manes, Gaël ; Bocquet, Beatrice ; Meunier, Isabelle ; Kalatzis, Vasiliki
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2019-05, Vol.20 (10), p.2542
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A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1
Author / Creator:Manes, Gaël ; Hebrard, Maxime ; Bocquet, Béatrice ; Meunier, Isabelle ; Coustes-Chazalette, Delphine ; Sénéchal, Audrey ; Bolland-Augé, Anne ; Zelenika, Diana ; Hamel, Christian P
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genetics, 2011-04, Vol.12 (1), p.54-54, Article 54
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Screening for a Canine Model of Choroideremia Exclusively Identifies Nonpathogenic CHM Variants
Author / Creator:Robert, Lorenne ; Sénéchal, Audrey ; Bocquet, Béatrice ; Herbin, Laetitia ; Chaudieu, Gilles ; Kalatzis, Vasiliki ; André, Catherine ; Hamel, Christian P.
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Ophthalmic research, 2011-01, Vol.45 (3), p.155-163
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Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients
Author / Creator:Douillard, Aymeric ; Picot, Marie-Christine ; Delcourt, Cécile ; Defoort-Dhellemmes, Sabine ; Marzouka, Nour Al-Dain ; Lacroux, Annie ; Zanlonghi, Xavier ; Drumare, Isabelle ; Jozefowicz, Elsa ; Bocquet, Béatrice ; Baudoin, Corinne ; Perez-Roustit, Sarah ; Arsène, Sophie ; Gissot, Valérie ; Devin, François ; Arndt, Carl ; Wolff, Benjamin ; Mauget-Faÿsse, Martine ; Quaranta, Maddalena ; Mura, Thibault ; Deplanque, Dominique ; Oubraham, Hassiba ; Cohen, Salomon Yves ; Gastaud, Pierre ; Zambrowski, Olivia ; Creuzot-Garcher, Catherine ; Saïd, Saddek Mohand ; Sahel, José-Alain ; Souied, Eric ; Milazzo, Solange ; Garavito, Rocio Blanco ; Kalatzis, Vasiliki ; Puech, Bernard ; Hamel, Christian ; Audo, Isabelle ; Meunier, Isabelle
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2018-05, Vol.8 (1), p.6840-10, Article 6840
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Combining gene mapping and phenotype assessment for fast mutation finding in non consanguineous autosomal recessive retinitis pigmentosa: mutation finding in non consanguineous families
Author / Creator:Hébrard, Maxime ; Bocquet, Béatrice ; Meunier, Isabelle ; Coustes-Chazalette, Delphine ; Hérald, Emilie ; Sénéchal, Audrey ; Bolland Augé, Anne ; Zelenika, Diana ; Manès, Gaël ; Hamel, Christian P
Publisher:Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2011-07
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A novel locus
Author / Creator:Manes, Gaël ; Hebrard, Maxime ; Bocquet, Béatrice ; Meunier, Isabelle ; Coustes-Chazalette, Delphine ; Sénéchal, Audrey ; Bolland-Augé, Anne ; Zelenika, Diana ; Hamel, Christian P
Publisher:BioMed Central Ltd
Journal title:BMC medical genetics, 2011-04, Vol.12, p.54
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The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management
Author / Creator:Tranebjærg, Lisbeth ; Strenzke, Nicola ; Lindholm, Sture ; Rendtorff, Nanna D. ; Poulsen, Hanne ; Khandelia, Himanshu ; Kopec, Wojciech ; Lyngbye, Troels J. Brünnich ; Hamel, Christian ; Delettre, Cecile ; Bocquet, Beatrice ; Bille, Michael ; Owen, Hanne H. ; Bek, Toke ; Jensen, Hanne ; Østergaard, Karen ; Möller, Claes ; Luxon, Linda ; Carr, Lucinda ; Wilson, Louise ; Rajput, Kaukab ; Sirimanna, Tony ; Harrop-Griffiths, Katherine ; Rahman, Shamima ; Vona, Barbara ; Doll, Julia ; Haaf, Thomas ; Bartsch, Oliver ; Rosewich, Hendrik ; Moser, Tobias ; Bitner-Glindzicz, Maria
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2018-02, Vol.137 (2), p.111-127
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Showing 1 to 20 of 23 results

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Characterization of SSBP1-related optic atrophy and foveopathy

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Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa

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Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy

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CRB1-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms

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

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A Truncated Form of Rod Photoreceptor PDE6 β-Subunit Causes Autosomal Dominant Congenital Stationary Night Blindness by Interfering with the Inhibitory Activity of the γ-Subunit

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Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants

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Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy

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Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort

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A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene

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Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia

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Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes

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Combining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa families

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Genome Editing as a Treatment for the Most Prevalent Causative Genes of Autosomal Dominant Retinitis Pigmentosa

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A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1

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Screening for a Canine Model of Choroideremia Exclusively Identifies Nonpathogenic CHM Variants

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Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients

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Combining gene mapping and phenotype assessment for fast mutation finding in non consanguineous autosomal recessive retinitis pigmentosa: mutation finding in non consanguineous families

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A novel locus

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The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management

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