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	41.	Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients. [electronic resource] by Audo, Isabelle Manes, Gaël Mohand-Saïd, Saddek Friedrich, Anne Lancelot, Marie-Elise Antonio, Aline Moskova-Doumanova, Veselina Poch, Oliver Zanlonghi, Xavier Hamel, Christian P Sahel, José-Alain Bhattacharya, Shomi S Zeitz, Christina Producer: 20100802 In: Investigative ophthalmology & visual science vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	42.	Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes. [electronic resource] by Meunier, Isabelle Manes, Gaël Bocquet, Béatrice Marquette, Virginie Baudoin, Corinne Puech, Bernard Defoort-Dhellemmes, Sabine Audo, Isabelle Verdet, Robert Arndt, Carl Zanlonghi, Xavier Le Meur, Guylène Dhaenens, Claire-Marie Hamel, Christian P Producer: 20150126 In: Ophthalmology vol. 121 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	43.	Phenotypic diversity and mutation spectrum in hypotrichosis with juvenile macular dystrophy. [electronic resource] by Indelman, Margarita Hamel, Christian P Bergman, Reuven Nischal, Ken K Thompson, Dorothy Surget, Marie-Odile Ramon, Michal Ganthos, Hatam Miller, Benjamin Richard, Gabriele Lurie, Raziel Leibu, Rina Russell-Eggitt, Isabelle Sprecher, Eli Producer: 20040122 In: The Journal of investigative dermatology vol. 121 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	44.	Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability. [electronic resource] by Angebault, Claire Charif, Majida Guegen, Naig Piro-Megy, Camille Mousson de Camaret, Benedicte Procaccio, Vincent Guichet, Pierre-Olivier Hebrard, Maxime Manes, Gael Leboucq, Nicolas Rivier, François Hamel, Christian P Lenaers, Guy Roubertie, Agathe Producer: 20160428 In: Human molecular genetics vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	45.	A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma. [electronic resource] by Ajmal, Muhammad Khan, Muhammad Imran Neveling, Kornelia Khan, Yar Muhammad Azam, Maleeha Waheed, Nadia Khalida Hamel, Christian P Ben-Yosef, Tamar De Baere, Elfride Koenekoop, Robert K Collin, Rob W J Qamar, Raheel Cremers, Frans P M Producer: 20150129 In: Journal of medical genetics vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	46.	Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations. [electronic resource] by Ferré, Marc Bonneau, Dominique Milea, Dan Chevrollier, Arnaud Verny, Christophe Dollfus, Hélène Ayuso, Carmen Defoort, Sabine Vignal, Catherine Zanlonghi, Xavier Charlin, Jean-Francois Kaplan, Josseline Odent, Sylvie Hamel, Christian P Procaccio, Vincent Reynier, Pascal Amati-Bonneau, Patrizia Producer: 20090923 In: Human mutation vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	47.	Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome. [electronic resource] by Scheidecker, Sophie Hull, Sarah Perdomo, Yaumara Studer, Fouzia Pelletier, Valérie Muller, Jean Stoetzel, Corinne Schaefer, Elise Defoort-Dhellemmes, Sabine Drumare, Isabelle Holder, Graham E Hamel, Christian P Webster, Andrew R Moore, Anthony T Puech, Bernard Dollfus, Hélène J Producer: 20150928 In: American journal of ophthalmology vol. 160 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	48.	Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant. [electronic resource] by Charif, Majida Titah, Salah Mohamed Cherif Roubertie, Agathe Desquiret-Dumas, Valérie Gueguen, Naig Meunier, Isabelle Leid, Jean Massal, Frédéric Zanlonghi, Xavier Mercier, Jacques Raynaud de Mauverger, Eric Procaccio, Vincent Mousson de Camaret, Bénédicte Lenaers, Guy Hamel, Christian P Producer: 20160609 In: American journal of medical genetics. Part A vol. 167A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	49.	Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia. [electronic resource] by 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 Producer: 20151217 In: The British journal of ophthalmology vol. 99 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	50.	The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse. [electronic resource] by Sarzi, Emmanuelle Angebault, Claire Seveno, Marie Gueguen, Naïg Chaix, Benjamin Bielicki, Guy Boddaert, Nathalie Mausset-Bonnefont, Anne-Laure Cazevieille, Chantal Rigau, Valérie Renou, Jean-Pierre Wang, Jing Delettre, Cécile Brabet, Philippe Puel, Jean-Luc Hamel, Christian P Reynier, Pascal Lenaers, Guy Producer: 20130215 In: Brain : a journal of neurology vol. 135 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	51.	Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction. [electronic resource] by Roubertie, Agathe Leboucq, Nicolas Picot, Marie Christine Nogue, Erika Brunel, Hervé Le Bars, Emmanuelle Manes, Gael Angebault Prouteau, Claire Blanchet, Catherine Mondain, Michel Chevassus, Hugues Amati-Bonneau, Patrizia Sarzi, Emmanuelle Pagès, Michel Villain, Max Meunier, Isabelle Lenaers, Guy Hamel, Christian P Producer: 20150928 In: Journal of the neurological sciences vol. 349 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	52.	OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution. [electronic resource] by Elachouri, Ghizlane Vidoni, Sara Zanna, Claudia Pattyn, Alexandre Boukhaddaoui, Hassan Gaget, Karen Yu-Wai-Man, Patrick Gasparre, Giuseppe Sarzi, Emmanuelle Delettre, Cécile Olichon, Aurélien Loiseau, Dominique Reynier, Pascal Chinnery, Patrick F Rotig, Agnès Carelli, Valerio Hamel, Christian P Rugolo, Michela Lenaers, Guy Producer: 20110421 In: Genome research vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	53.	Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness. [electronic resource] by Zeitz, Christina Jacobson, Samuel G Hamel, Christian P Bujakowska, Kinga Neuillé, Marion Orhan, Elise Zanlonghi, Xavier Lancelot, Marie-Elise Michiels, Christelle Schwartz, Sharon B Bocquet, Béatrice Antonio, Aline Audier, Claire Letexier, Mélanie Saraiva, Jean-Paul Luu, Tien D Sennlaub, Florian Nguyen, Hoan Poch, Olivier Dollfus, Hélène Lecompte, Odile Kohl, Susanne Sahel, José-Alain Bhattacharya, Shomi S Audo, Isabelle Producer: 20130312 In: American journal of human genetics vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	54.	High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome. [electronic resource] by Parri, Veronica Katzaki, Eleni Uliana, Vera Scionti, Francesca Tita, Rossella Artuso, Rosangela Longo, Ilaria Boschloo, Renske Vijzelaar, Raymon Selicorni, Angelo Brancati, Francesco Dallapiccola, Bruno Zelante, Leopoldo Hamel, Christian P Sarda, Pierre Lalani, Seema R Grasso, Rita Buoni, Sabrina Hayek, Joussef Servais, Laurent de Vries, Bert B A Georgoudi, Nelly Nakou, Sheena Petersen, Michael B Mari, Francesca Renieri, Alessandra Ariani, Francesca Producer: 20110207 In: European journal of human genetics : EJHG vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	55.	Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy. [electronic resource] by Chakarova, Christina F Papaioannou, Myrto G Khanna, Hemant Lopez, Irma Waseem, Naushin Shah, Amna Theis, Torsten Friedman, James Maubaret, Cecilia Bujakowska, Kinga Veraitch, Brotati Abd El-Aziz, Mai M Prescott, De Quincy Parapuram, Sunil K Bickmore, Wendy A Munro, Peter M G Gal, Andreas Hamel, Christian P Marigo, Valeria Ponting, Chris P Wissinger, Bernd Zrenner, Eberhart Matter, Karl Swaroop, Anand Koenekoop, Robert K Bhattacharya, Shomi S Producer: 20071127 In: American journal of human genetics vol. 81 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	56.	High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features. [electronic resource] by Manes, Gaël Guillaumie, Tremeur Vos, Werner L Devos, Aurore Audo, Isabelle Zeitz, Christina Marquette, Virginie Zanlonghi, Xavier Defoort-Dhellemmes, Sabine Puech, Bernard Said, Saddek Mohand Sahel, José Alain Odent, Sylvie Dollfus, Hélène Kaplan, Josseline Dufier, Jean-Louis Le Meur, Guylène Weber, Michel Faivre, Laurence Cohen, Francine Behar Béroud, Christophe Picot, Marie-Christine Verdier, Coralie Sénéchal, Audrey Baudoin, Corinne Bocquet, Béatrice Findlay, John B Meunier, Isabelle Dhaenens, Claire-Marie Hamel, Christian P Producer: 20150227 In: American journal of ophthalmology vol. 159 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	57.	Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management. [electronic resource] by Bocquet, Beatrice Lacroux, Annie Surget, Marie-Odile Baudoin, Corinne Marquette, Virginie Manes, Gael Hebrard, Maxime Sénéchal, Audrey Delettre, Cecile Roux, Anne-Francoise Claustres, Mireille Dhaenens, Claire-Marie Rozet, Jean-Michel Perrault, Isabelle Bonnefont, Jean-Paul Kaplan, Josseline Dollfus, Helene Amati-Bonneau, Patrizia Bonneau, Dominique Reynier, Pascal Audo, Isabelle Zeitz, Christina Sahel, José Alain Paquis-Flucklinger, Veronique Calvas, Patrick Arveiler, Benoit Kohl, Suzanne Wissinger, Bernd Blanchet, Catherine Meunier, Isabelle Hamel, Christian P Producer: 20130530 In: Ophthalmic epidemiology vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	58.	Mutations in IMPG1 cause vitelliform macular dystrophies. [electronic resource] by Manes, Gaël Meunier, Isabelle Avila-Fernández, Almudena Banfi, Sandro Le Meur, Guylène Zanlonghi, Xavier Corton, Marta Simonelli, Francesca Brabet, Philippe Labesse, Gilles Audo, Isabelle Mohand-Said, Saddek Zeitz, Christina Sahel, José-Alain Weber, Michel Dollfus, Hélène Dhaenens, Claire-Marie Allorge, Delphine De Baere, Elfride Koenekoop, Robert K Kohl, Susanne Cremers, Frans P M Hollyfield, Joe G Sénéchal, Audrey Hebrard, Maxime Bocquet, Béatrice Ayuso García, Carmen Hamel, Christian P Producer: 20131105 In: American journal of human genetics vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	59.	TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. [electronic resource] by Audo, Isabelle Kohl, Susanne Leroy, Bart P Munier, Francis L Guillonneau, Xavier Mohand-Saïd, Saddek Bujakowska, Kinga Nandrot, Emeline F Lorenz, Birgit Preising, Markus Kellner, Ulrich Renner, Agnes B Bernd, Antje Antonio, Aline Moskova-Doumanova, Veselina Lancelot, Marie-Elise Poloschek, Charlotte M Drumare, Isabelle Defoort-Dhellemmes, Sabine Wissinger, Bernd Léveillard, Thierry Hamel, Christian P Schorderet, Daniel F De Baere, Elfride Berger, Wolfgang Jacobson, Samuel G Zrenner, Eberhart Sahel, José-Alain Bhattacharya, Shomi S Zeitz, Christina Producer: 20091222 In: American journal of human genetics vol. 85 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	60.	Genotyping microarray for CSNB-associated genes. [electronic resource] by Zeitz, Christina Labs, Stephan Lorenz, Birgit Forster, Ursula Uksti, Janne Kroes, Hester Y De Baere, Elfride Leroy, Bart P Cremers, Frans P M Wittmer, Mariana van Genderen, Maria M Sahel, José-Alain Audo, Isabelle Poloschek, Charlotte M Mohand-Saïd, Saddek Fleischhauer, Johannes C Hüffmeier, Ulrike Moskova-Doumanova, Veselina Levin, Alex V Hamel, Christian P Leifert, Dorothee Munier, Francis L Schorderet, Daniel F Zrenner, Eberhart Friedburg, Christoph Wissinger, Bernd Kohl, Susanne Berger, Wolfgang Producer: 20091223 In: Investigative ophthalmology & visual science vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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