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Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.
Published in:
2015
By:
- Boulanger-Scemama, Elise;
- Shamieh, Said El;
- 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;
- El Shamieh, Said
Publication type:
journal article
Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases.
Published in:
2012
By:
- Audo, Isabelle;
- Bujakowska, Kinga M;
- Léveillard, Thierry;
- Mohand-Saïd, Saddek;
- Lancelot, Marie-Elise;
- Germain, Aurore;
- Antonio, Aline;
- Michiels, Christelle;
- Saraiva, Jean-Paul;
- Letexier, Mélanie;
- Sahel, José-Alain;
- Bhattacharya, Shomi S;
- Zeitz, Christina
Publication type:
journal article
Mice Lacking Gpr179 with Complete Congenital Stationary Night Blindness Are a Good Model for Myopia.
Published in:
International Journal of Molecular Sciences, 2023, v. 24, n. 1, p. 219, doi. 10.3390/ijms24010219
By:
- Wilmet, Baptiste;
- Callebert, Jacques;
- Duvoisin, Robert;
- Goulet, Ruben;
- Tourain, Christophe;
- Michiels, Christelle;
- Frederiksen, Helen;
- Schaeffel, Frank;
- Marre, Olivier;
- Sahel, José Alain;
- Audo, Isabelle;
- Picaud, Serge;
- Zeitz, Christina
Publication type:
Article
Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy.
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 15, p. 7875, doi. 10.3390/ijms22157875
By:
- Zeitz, Christina;
- Méjécase, Cécile;
- Michiels, Christelle;
- Condroyer, Christel;
- Wohlschlegel, Juliette;
- Foussard, Marine;
- Antonio, Aline;
- Démontant, Vanessa;
- Emmenegger, Lisa;
- Schalk, Audrey;
- Neuillé, Marion;
- Orhan, Elise;
- Augustin, Sébastien;
- Bonnet, Crystel;
- Estivalet, Amrit;
- Blond, Frédéric;
- Blanchard, Steven;
- Andrieu, Camille;
- Chantot-Bastaraud, Sandra;
- Léveillard, Thierry
Publication type:
Article
A New Mouse Model for Complete Congenital Stationary Night Blindness Due to Gpr179 Deficiency.
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 9, p. 4424, doi. 10.3390/ijms22094424
By:
- Orhan, Elise;
- Neuillé, Marion;
- de Sousa Dias, Miguel;
- Pugliese, Thomas;
- Michiels, Christelle;
- Condroyer, Christel;
- Antonio, Aline;
- Sahel, José-Alain;
- Audo, Isabelle;
- Zeitz, Christina;
- Maeda, Akiko
Publication type:
Article
Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies.
Published in:
International Journal of Molecular Sciences, 2019, v. 20, n. 19, p. 4854, doi. 10.3390/ijms20194854
By:
- 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
Publication type:
Article
Genotypic and Phenotypic Characterization of P23H Line 1 Rat Model.
Published in:
PLoS ONE, 2015, v. 10, n. 5, p. 1, doi. 10.1371/journal.pone.0127319
By:
- Orhan, Elise;
- Dalkara, Deniz;
- Neuillé, Marion;
- Lechauve, Christophe;
- Michiels, Christelle;
- Picaud, Serge;
- Léveillard, Thierry;
- Sahel, José-Alain;
- Naash, Muna I.;
- Lavail, Matthew M.;
- Zeitz, Christina;
- Audo, Isabelle
Publication type:
Article
<i>Lrit3</i> Deficient Mouse (<i>nob6</i>): A Novel Model of Complete Congenital Stationary Night Blindness (cCSNB).
Published in:
PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0090342
By:
- Neuillé, Marion;
- El Shamieh, Said;
- Orhan, Elise;
- Michiels, Christelle;
- Antonio, Aline;
- Lancelot, Marie-Elise;
- Condroyer, Christel;
- Bujakowska, Kinga;
- Poch, Olivier;
- Sahel, José-Alain;
- Audo, Isabelle;
- Zeitz, Christina
Publication type:
Article
A Novel Heterozygous Missense Mutation in GNAT1 Leads to Autosomal Dominant Riggs Type of Congenital Stationary Night Blindness.
Published in:
BioMed Research International, 2018, v. 2018, p. 1, doi. 10.1155/2018/7694801
By:
- Zeitz, Christina;
- Méjécase, Cécile;
- Stévenard, Mathilde;
- Michiels, Christelle;
- Audo, Isabelle;
- Marmor, Michael F.
Publication type:
Article
Identification and characterization of novel TRPM1 autoantibodies from serum of patients with melanoma-associated retinopathy.
Published in:
PLoS ONE, 2020, v. 15, n. 4, p. 1, doi. 10.1371/journal.pone.0231750
By:
- Varin, Juliette;
- Reynolds, Margaret M.;
- Bouzidi, Nassima;
- Tick, Sarah;
- Wohlschlegel, Juliette;
- Becquart, Ondine;
- Michiels, Christelle;
- Dereure, Olivier;
- Duvoisin, Robert M.;
- Morgans, Catherine W.;
- Sahel, José-Alain;
- Samaran, Quentin;
- Guillot, Bernard;
- Pulido, José S.;
- Audo, Isabelle;
- Zeitz, Christina
Publication type:
Article
WDR34, a candidate gene for non‐syndromic rod‐cone dystrophy.
Published in:
Clinical Genetics, 2021, v. 99, n. 2, p. 298, doi. 10.1111/cge.13872
By:
- Solaguren‐Beascoa, Maria;
- Bujakowska, Kinga M.;
- Méjécase, Cécile;
- Emmenegger, Lisa;
- Orhan, Elise;
- Neuillé, Marion;
- Mohand‐Saïd, Saddek;
- Condroyer, Christel;
- Lancelot, Marie‐Elise;
- Michiels, Christelle;
- Demontant, Vanessa;
- Antonio, Aline;
- Letexier, Mélanie;
- Saraiva, Jean‐Paul;
- Lonjou, Christine;
- Carpentier, Wassila;
- Léveillard, Thierry;
- Pierce, Eric A.;
- Dollfus, Hélène;
- Sahel, José‐Alain
Publication type:
Article
The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 2, p. 491, doi. 10.1093/hmg/ddt439
By:
- Audo, Isabelle;
- Bujakowska, Kinga;
- Orhan, Elise;
- El Shamieh, Said;
- Sennlaub, Florian;
- Guillonneau, Xavier;
- Antonio, Aline;
- Michiels, Christelle;
- Lancelot, Marie-Elise;
- Letexier, Melanie;
- Saraiva, Jean-Paul;
- Nguyen, Hoan;
- Luu, Tien D.;
- Léveillard, Thierry;
- Poch, Olivier;
- Dollfus, Hélène;
- Paques, Michel;
- Goureau, Olivier;
- Mohand-Saïd, Saddek;
- Bhattacharya, Shomi S.
Publication type:
Article
Do differentially expressed genes explain high myopia in congenital stationary night blindness?
Published in:
Acta Ophthalmologica (1755375X), 2024, v. 102, p. N.PAG, doi. 10.1111/aos.16374
By:
- Zeitz, Christina;
- Roger, Jerome E.;
- Michiels, Christelle;
- Sánchez‐Farías, Nuria;
- Varin, Juliette;
- Frederiksen, Helen;
- Wilmet, Baptiste;
- Gimenez, Marie‐Laure;
- Bouzidi, Nassima;
- Blond, Frederic;
- Guilllonneau, Xavier;
- Léveillard, Thierry;
- Sahel, José‐Alain;
- Picaud, Serge;
- Audo, Isabelle
Publication type:
Article
Shedding light on myopia by studying complete congenital stationary night blindness.
Published in:
Acta Ophthalmologica (1755375X), 2022, v. 100, p. N.PAG, doi. 10.1111/j.1755-3768.2022.15380
By:
- Zeitz, Christina;
- Roger, Jerome E.;
- Michiels, Christelle;
- Sánchez‐Farías, Nuria;
- Varin, Juliette;
- Frederiksen, Helen;
- Wilmet, Baptiste;
- Gimenez, Marie‐Laure;
- Bouzidi, Nassima;
- Blond, Frederic;
- Guilllonneau, Xavier;
- Léveillard, Thierry;
- Sahel, José‐Alain;
- Picaud, Serge;
- Audo, Isabelle
Publication type:
Article
Establishment and measurement of myopia in mice with ON‐bipolar cell defects.
Published in:
Acta Ophthalmologica (1755375X), 2022, v. 100, p. N.PAG, doi. 10.1111/j.1755-3768.2022.0624
By:
- Baptiste, Wilmet;
- Robert, Duvoisin;
- Jacques, Callebert;
- Ruben, Goulet;
- Christophe, Tourain;
- Christelle, Michiels;
- Julie, Degardin;
- Helen, Frederiksen;
- Quenol, Cesar;
- Manuel, Simonutti;
- Olivier, Marre;
- José‐Alain, Sahel;
- Audo, Isabelle;
- Serge, Picaud;
- Zeitz, Christina
Publication type:
Article
Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy.
Published in:
2016
By:
- 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
Publication type:
Case Study
LRIT3 is essential to localize TRPM1 to the dendritic tips of depolarizing bipolar cells and may play a role in cone synapse formation.
Published in:
European Journal of Neuroscience, 2015, v. 42, n. 3, p. 1966, doi. 10.1111/ejn.12959
By:
- Neuillé, Marion;
- Morgans, Catherine W.;
- Cao, Yan;
- Orhan, Elise;
- Michiels, Christelle;
- Sahel, José‐Alain;
- Audo, Isabelle;
- Duvoisin, Robert M.;
- Martemyanov, Kirill A.;
- Zeitz, Christina
Publication type:
Article
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F‐mediated inherited retinal disorders.
Published in:
Human Mutation, 2019, v. 40, n. 6, p. 765, doi. 10.1002/humu.23735
By:
- Zeitz, Christina;
- Michiels, Christelle;
- Neuillé, Marion;
- Friedburg, Christoph;
- Condroyer, Christel;
- Boyard, Fiona;
- Antonio, Aline;
- Bouzidi, Nassima;
- Milicevic, Diana;
- Veaux, Robin;
- Tourville, Aurore;
- Zoumba, Axelle;
- Seneina, Imene;
- Foussard, Marine;
- Andrieu, Camille;
- N. Preising, Markus;
- Blanchard, Steven;
- Saraiva, Jean‐Paul;
- Mesrob, Lilia;
- Le Floch, Edith
Publication type:
Article
Further Insights into the Ciliary Gene and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone Dystrophy.
Published in:
Genes, 2017, v. 8, n. 10, p. 277, doi. 10.3390/genes8100277
By:
- El Shamieh, Said;
- Méjécase, Cécile;
- Bertelli, Matteo;
- Terray, Angélique;
- Michiels, Christelle;
- Condroyer, Christel;
- Fouquet, Stéphane;
- Sadoun, Maxime;
- Clérin, Emmanuelle;
- Binqian Liu;
- Léveillard, Thierry;
- Goureau, Olivier;
- Sahel, José-Alain;
- Audo, Isabelle;
- Zeitz, Christina
Publication type:
Article

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