Hasil Pencarian - Christel Condroyer

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  1. 1
    Generation of gene corrected human isogenic iPSC lines (IDVi003-A_CR13, IDVi003-A_CR21, IDVi003-A_CR24) from an inherited retinal dystrophy patient-derived IPSC line ITM2B-5286-3 (IDVi003-A) carrying the ITM2B c.782A > C variant using CRISPR/Cas9

    Generation of gene corrected human isogenic iPSC lines (IDVi003-A_CR13, IDVi003-A_CR21, IDVi003-A_CR24) from an inherited retinal dystrophy patient-derived IPSC line ITM2B-5286-3 (... oleh Tasnim Ben yacoub, Camille Letellier, Juliette Wohlschlegel, Christel Condroyer, Amélie Slembrouck-Brec, Olivier Goureau, Christina Zeitz, Isabelle Audo

    Diterbitkan 2023-09-01
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  2. 2
    A New Mouse Model for Complete Congenital Stationary Night Blindness Due to <i>Gpr179</i> Deficiency

    A New Mouse Model for Complete Congenital Stationary Night Blindness Due to <i>Gpr179</i> Deficiency oleh Elise Orhan, Marion Neuillé, Miguel de Sousa Dias, Thomas Pugliese, Christelle Michiels, Christel Condroyer, Aline Antonio, José-Alain Sahel, Isabelle Audo, Christina Zeitz

    Diterbitkan 2021-04-01
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  3. 3
    Large Benefit from Simple Things: High-Dose Vitamin A Improves <i>RBP4</i>-Related Retinal Dystrophy

    Large Benefit from Simple Things: High-Dose Vitamin A Improves <i>RBP4</i>-Related Retinal Dystrophy oleh Vasily M. Smirnov, Baptiste Wilmet, Marco Nassisi, Christel Condroyer, Aline Antonio, Camille Andrieu, Céline Devisme, Serge Sancho, José-Alain Sahel, Christina Zeitz, Isabelle Audo

    Diterbitkan 2022-06-01
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  4. 4
    Near-infrared fundus autofluorescence alterations correlate with swept-source optical coherence tomography angiography findings in patients with retinitis pigmentosa

    Near-infrared fundus autofluorescence alterations correlate with swept-source optical coherence tomography angiography findings in patients with retinitis pigmentosa oleh Marco Nassisi, Carlo Lavia, Saddek Mohand-Said, Vasily Smirnov, Aline Antonio, Christel Condroyer, Serge Sancho, Juliette Varin, Alain Gaudric, Christina Zeitz, José-Alain Sahel, Isabelle Audo

    Diterbitkan 2021-02-01
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  5. 5
    Generation of human induced pluripotent stem cell lines from a patient with ITM2B-related retinal dystrophy and a non mutated brother

    Generation of human induced pluripotent stem cell lines from a patient with ITM2B-related retinal dystrophy and a non mutated brother oleh Juliette Wohlschlegel, Camille Letellier, Bingqian Liu, Cécile Méjécase, Amélie Slembrouck-Brec, Christel Condroyer, Christelle Michiels, José-Alain Sahel, Sacha Reichman, Christina Zeitz, Olivier Goureau, Isabelle Audo

    Diterbitkan 2019-12-01
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  6. 6
    Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB).

    Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB). oleh Marion Neuillé, Said El Shamieh, Elise Orhan, Christelle Michiels, Aline Antonio, Marie-Elise Lancelot, Christel Condroyer, Kinga Bujakowska, Olivier Poch, José-Alain Sahel, Isabelle Audo, Christina Zeitz

    Diterbitkan 2014-01-01
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  7. 7
    Prevalence of <i>ABCA4</i> Deep-Intronic Variants and Related Phenotype in An Unsolved “One-Hit” Cohort with Stargardt Disease

    Prevalence of <i>ABCA4</i> Deep-Intronic Variants and Related Phenotype in An Unsolved “One-Hit” Cohort with Stargardt Disease oleh Marco Nassisi, Saddek Mohand-Saïd, Camille Andrieu, Aline Antonio, Christel Condroyer, Cécile Méjécase, Juliette Varin, Juliette Wohlschlegel, Claire-Marie Dhaenens, José-Alain Sahel, Christina Zeitz, Isabelle Audo

    Diterbitkan 2019-10-01
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  8. 8
    Generation of human induced pluripotent stem cell lines from a subject with UBAP1L-associated retinal dystrophy and CRISPR/cas9-corrected isogenic iPSC lines

    Generation of human induced pluripotent stem cell lines from a subject with UBAP1L-associated retinal dystrophy and CRISPR/cas9-corrected isogenic iPSC lines oleh Andréa Amprou, Tasnim Ben Yacoub, Camille Letellier, Vincenzo Degaetano, Cécile Méjécase, Leila Azizzadeh Pormehr, Christel Condroyer, Amélie Slembrouck-Brec, Juliette Wohlschlegel, Olivier Goureau, Christina Zeitz, Isabelle Audo

    Diterbitkan 2024-12-01
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  9. 9
    Retrospective Natural History Study of <i>RPGR</i>-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease

    Retrospective Natural History Study of <i>RPGR</i>-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease oleh Marco Nassisi, Giuseppe De Bartolo, Saddek Mohand-Said, Christel Condroyer, Aline Antonio, Marie-Elise Lancelot, Kinga Bujakowska, Vasily Smirnov, Thomas Pugliese, John Neidhardt, José-Alain Sahel, Christina Zeitz, Isabelle Audo

    Diterbitkan 2022-06-01
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  10. 10
    Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies

    Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies oleh Elise Boulanger-Scemama, Saddek Mohand-Saïd, Said El Shamieh, Vanessa Démontant, Christel Condroyer, Aline Antonio, Christelle Michiels, Fiona Boyard, Jean-Paul Saraiva, Mélanie Letexier, José-Alain Sahel, Christina Zeitz, Isabelle Audo

    Diterbitkan 2019-09-01
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  11. 11
    Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort

    Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort oleh Marco Nassisi, Saddek Mohand-Saïd, Claire-Marie Dhaenens, Fiona Boyard, Vanessa Démontant, Camille Andrieu, Aline Antonio, Christel Condroyer, Marine Foussard, Cécile Méjécase, Chiara Maria Eandi, José-Alain Sahel, Christina Zeitz, Isabelle Audo

    Diterbitkan 2018-07-01
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  12. 12
    Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy.

    Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy. oleh Cécile Méjécase, Caroline Laurent-Coriat, Claudine Mayer, Olivier Poch, Saddek Mohand-Saïd, Camille Prévot, Aline Antonio, Fiona Boyard, Christel Condroyer, Christelle Michiels, Steven Blanchard, Mélanie Letexier, Jean-Paul Saraiva, José-Alain Sahel, Isabelle Audo, Christina Zeitz

    Diterbitkan 2016-01-01
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  13. 13
    Mutated <i>CCDC51</i> Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy

    Mutated <i>CCDC51</i> Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy oleh Christina Zeitz, Cécile Méjécase, Christelle Michiels, Christel Condroyer, Juliette Wohlschlegel, Marine Foussard, Aline Antonio, Vanessa Démontant, Lisa Emmenegger, Audrey Schalk, Marion Neuillé, Elise Orhan, Sébastien Augustin, Crystel Bonnet, Amrit Estivalet, Frédéric Blond, Steven Blanchard, Camille Andrieu, Sandra Chantot-Bastaraud, Thierry Léveillard, Saddek Mohand-Saïd, José-Alain Sahel, Isabelle Audo

    Diterbitkan 2021-07-01
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