Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation
Boulanger-Scemama, Elise, El Shamieh, Said, Démontant, Vanessa, Condroyer, Christel, Antonio, Aline, Michiels, Christelle, Boyard, Fiona, Saraiva, Jean-Paul, Letexier, Mélanie, Souied, Eric, Mohand-Saïd, Saddek, Sahel, José-Alain, Zeitz, Christina, Audo, Isabelle
Published in Orphanet journal of rare diseases (24.06.2015)
Published in Orphanet journal of rare diseases (24.06.2015)
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Journal Article
Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies
Boulanger-Scemama, Elise, Mohand-Saïd, Saddek, El Shamieh, Said, Démontant, Vanessa, Condroyer, Christel, Antonio, Aline, Michiels, Christelle, Boyard, Fiona, Saraiva, Jean-Paul, Letexier, Mélanie, Sahel, José-Alain, Zeitz, Christina, Audo, Isabelle
Published in International journal of molecular sciences (30.09.2019)
Published in International journal of molecular sciences (30.09.2019)
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Journal Article
Expanding the Mutation Spectrum in ABCA4 : Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort
Nassisi, Marco, Mohand-Saïd, Saddek, Dhaenens, Claire-Marie, Boyard, Fiona, Démontant, Vanessa, Andrieu, Camille, Antonio, Aline, Condroyer, Christel, Foussard, Marine, Méjécase, Cécile, Eandi, Chiara Maria, Sahel, José-Alain, Zeitz, Christina, Audo, Isabelle
Published in International journal of molecular sciences (27.07.2018)
Published in International journal of molecular sciences (27.07.2018)
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Journal Article
Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy
Méjécase, Cécile, Laurent-Coriat, Caroline, Mayer, Claudine, Poch, Olivier, Mohand-Saïd, Saddek, Prévot, Camille, Antonio, Aline, Boyard, Fiona, Condroyer, Christel, Michiels, Christelle, Blanchard, Steven, Letexier, Mélanie, Saraiva, Jean-Paul, Sahel, José-Alain, Audo, Isabelle, Zeitz, Christina
Published in PloS one (15.12.2016)
Published in PloS one (15.12.2016)
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MERTK mutation update in inherited retinal diseases
Audo, Isabelle, Mohand‐Said, Saddek, Boulanger‐Scemama, Elise, Zanlonghi, Xavier, Condroyer, Christel, Démontant, Vanessa, Boyard, Fiona, Antonio, Aline, Méjécase, Cécile, El Shamieh, Said, Sahel, José‐Alain, Zeitz, Christina
Published in Human mutation (01.07.2018)
Published in Human mutation (01.07.2018)
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Journal Article
Visual Acuity Loss and Associated Risk Factors in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 2)
Kong, Xiangrong, PhD, Strauss, Rupert W., MD, Michaelides, Michel, MD, Cideciyan, Artur V., PhD, Sahel, José-Alain, MD, Muñoz, Beatriz, MS, West, Sheila, PhD, Scholl, Hendrik P.N., MD, MA
Published in Ophthalmology (Rochester, Minn.) (01.09.2016)
Published in Ophthalmology (Rochester, Minn.) (01.09.2016)
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CHM mutation spectrum and disease: An update at the time of human therapeutic trials
Zeitz, Christina, Nassisi, Marco, Laurent‐Coriat, Caroline, Andrieu, Camille, Boyard, Fiona, Condroyer, Christel, Démontant, Vanessa, Antonio, Aline, Lancelot, Marie‐Elise, Frederiksen, Helen, Kloeckener‐Gruissem, Barbara, El‐Shamieh, Said, Zanlonghi, Xavier, Meunier, Isabelle, Roux, Anne‐Françoise, Mohand‐Saïd, Saddek, Sahel, José‐Alain, Audo, Isabelle
Published in Human mutation (01.04.2021)
Published in Human mutation (01.04.2021)
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Journal Article
Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non‐syndromic rod‐cone dystrophy
Méjécase, Cécile, Hummel, Aurélie, Mohand‐Saïd, Saddek, Andrieu, Camille, El Shamieh, Said, Antonio, Aline, Condroyer, Christel, Boyard, Fiona, Foussard, Marine, Blanchard, Steven, Letexier, Mélanie, Saraiva, Jean‐Paul, Sahel, José‐Alain, Zeitz, Christina, Audo, Isabelle
Published in Clinical genetics (01.02.2019)
Published in Clinical genetics (01.02.2019)
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Journal Article
Whole-Exome Sequencing Identifies KIZ as a Ciliary Gene Associated with Autosomal-Recessive Rod-Cone Dystrophy
El Shamieh, Said, Neuillé, Marion, Terray, Angélique, Orhan, Elise, Condroyer, Christel, Démontant, Vanessa, Michiels, Christelle, Antonio, Aline, Boyard, Fiona, Lancelot, Marie-Elise, Letexier, Mélanie, Saraiva, Jean-Paul, Léveillard, Thierry, Mohand-Saïd, Saddek, Goureau, Olivier, Sahel, José-Alain, Zeitz, Christina, Audo, Isabelle
Published in American journal of human genetics (03.04.2014)
Published in American journal of human genetics (03.04.2014)
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Journal Article
Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family
Dias, Miguel de Sousa, Hamel, Christian P, Meunier, Isabelle, Varin, Juliette, Blanchard, Steven, Boyard, Fiona, Sahel, José-Alain, Zeitz, Christina
Published in Molecular vision (2017)
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Published in Molecular vision (2017)
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