Cone rod dystrophies

Por Hamel Christian P
Publicado em 2007-02-01

Cone rod dystrophies

Por Hamel, Christian P
Publicado em 2007

Clinical utility gene card for: achromatopsia

Por Kohl, Susanne, Hamel, Christian P
Publicado em 2011

Clinical utility gene card for: blue cone monochromatism

Por Kohl, Susanne, Hamel, Christian P
Publicado em 2011

Gene structure and chromosomal localization of mouse Opa1 : its exclusion from the Bst locus

Por Delettre, Cécile, Lenaers, Guy, Belenguer, Pascale, Hamel, Christian P
Publicado em 2003

A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability

Por Charif, Majida, Roubertie, Agathe, Salime, Sara, Mamouni, Sonia, Goizet, Cyril, Hamel, Christian P., Lenaers, Guy
Publicado no Front Genet (2015)

Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations

Por Bocquet, Béatrice, Marzouka, Nour al Dain, Hebrard, Maxime, Manes, Gaël, Sénéchal, Audrey, Meunier, Isabelle, Hamel, Christian P.
Publicado em 2013

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

Por Manes, Gaël, Cheguru, Pallavi, Majumder, Anurima, Bocquet, Béatrice, Sénéchal, Audrey, Artemyev, Nikolai O., Hamel, Christian P., Brabet, Philippe
Publicado em 2014

Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family

Por Dias, Miguel de Sousa, Hamel, Christian P., Meunier, Isabelle, Varin, Juliette, Blanchard, Steven, Boyard, Fiona, Sahel, José-Alain, Zeitz, Christina
Publicado no Mol Vis (2017)

Cone dystrophy or macular dystrophy associated with novel autosomal dominant GUCA1A mutations

Por Manes, Gaël, Mamouni, Sonia, Hérald, Emilie, Richard, Anne-Claire, Sénéchal, Audrey, Aouad, Karim, Bocquet, Béatrice, Meunier, Isabelle, Hamel, Christian P.
Publicado no Mol Vis (2017)

Deafness and Cochlear Fibrocyte Alterations in Mice Deficient for the Inner Ear Protein Otospiralin

Por Delprat, Benjamin, Ruel, Jérôme, Guitton, Matthieu J., Hamard, Ghyslaine, Lenoir, Marc, Pujol, Rémy, Puel, Jean-Luc, Brabet, Philippe, Hamel, Christian P.
Publicado em 2005

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

Por Manes, Gaël, Hebrard, Maxime, Bocquet, Béatrice, Meunier, Isabelle, Coustes-Chazalette, Delphine, Sénéchal, Audrey, Bolland-Augé, Anne, Zelenika, Diana, Hamel, Christian P
Publicado em 2011

Phloroglucinol protects retinal pigment epithelium and photoreceptor against all‐trans‐retinal–induced toxicity and inhibits A2E formation

Por Cia, David, Cubizolle, Aurélie, Crauste, Céline, Jacquemot, Nathalie, Guillou, Laurent, Vigor, Claire, Angebault, Claire, Hamel, Christian P., Vercauteren, Joseph, Brabet, Philippe
Publicado no J Cell Mol Med (2016)

Fatp1 Deficiency Affects Retinal Light Response and Dark Adaptation, and Induces Age-Related Alterations

Por Chekroud, Karim, Guillou, Laurent, Grégoire, Stephane, Ducharme, Gilles, Brun, Emilie, Cazevieille, Chantal, Bretillon, Lionel, Hamel, Christian P., Brabet, Philippe, Pequignot, Marie O.
Publicado em 2012

Bardet-Biedl Syndrome: A Study of the Renal and Cardiovascular Phenotypes in a French Cohort

Por Imhoff, Olivier, Marion, Vincent, Stoetzel, Corinne, Durand, Myriam, Holder, Muriel, Sigaudy, Sabine, Sarda, Pierre, Hamel, Christian P., Brandt, Christian, Dollfus, Hélène, Moulin, Bruno
Publicado em 2011

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

Por Hebrard, Maxime, Manes, Gaël, Bocquet, Béatrice, Meunier, Isabelle, Coustes-Chazalette, Delphine, Hérald, Emilie, Sénéchal, Audrey, Bolland-Augé, Anne, Zelenika, Diana, Hamel, Christian P
Publicado em 2011

FATP1 Inhibits 11-cis Retinol Formation via Interaction with the Visual Cycle Retinoid Isomerase RPE65 and Lecithin:Retinol Acyltransferase

Por Guignard, Thomas J. P., Jin, Minghao, Pequignot, Marie O., Li, Songhua, Chassigneux, Yolaine, Chekroud, Karim, Guillou, Laurent, Richard, Eric, Hamel, Christian P., Brabet, Philippe
Publicado em 2010

Proof of concept for AAV2/5-mediated gene therapy in iPSC-derived retinal pigment epithelium of a choroideremia patient

Por Cereso, Nicolas, Pequignot, Marie O, Robert, Lorenne, Becker, Fabienne, De Luca, Valerie, Nabholz, Nicolas, Rigau, Valerie, De Vos, John, Hamel, Christian P, Kalatzis, Vasiliki
Publicado no Mol Ther Methods Clin Dev (2014)

LRIT3 Differentially Affects Connectivity and Synaptic Transmission of Cones to ON- and OFF-Bipolar Cells

Por Neuillé, Marion, Cao, Yan, Caplette, Romain, Guerrero-Given, Debbie, Thomas, Connon, Kamasawa, Naomi, Sahel, José-Alain, Hamel, Christian P., Audo, Isabelle, Picaud, Serge, Martemyanov, Kirill A., Zeitz, Christina
Publicado no Invest Ophthalmol Vis Sci (2017)

Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients

Por Audo, Isabelle, Manes, Gaël, Mohand-Saïd, Saddek, Friedrich, Anne, Lancelot, Marie-Elise, Antonio, Aline, Moskova-Doumanova, Veselina, Poch, Olivier, Zanlonghi, Xavier, Hamel, Christian P., Sahel, José-Alain, Bhattacharya, Shomi S, Zeitz, Christina
Publicado em 2010