Results 181 to 190 of about 266,209 (210)

Leber congenital amaurosis: Genes, proteins and disease mechanisms

Progress in Retinal and Eye Research, 2008
Robert Koenekoop, Frans P M Cremers, Ronald Roepman   +2 more
exaly  

A Novel Locus for Leber Congenital Amaurosis Maps to Chromosome 6q

American Journal of Human Genetics, 2000
Eduardo Silva, Irene H. Maumenee, Agnes B Baffoe-Bonnie   +2 more
exaly  

Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies

Ophthalmology, 2018
Andrew R Webster, Anthony T Moore, Michel Michaelides   +2 more
exaly  

Leber's Congenital Amaurosis as a Manifestation of Infantile Ceroid Lipofuscinosis (Haltia-Santavuori Type)

Neuro-Ophthalmology, 1984
Peter R Egbert, Lysia S Forno, Henry Urich   +2 more
exaly  

Peripapillary sparing in RDH12-associated Leber congenital amaurosis

Ophthalmic Genetics, 2017
Stephen Tsang, Winston Lee, Rando Allikmets   +2 more
exaly  

Different Functional Outcome of RetGC1 and RPE65 Gene Mutations in Leber Congenital Amaurosis

American Journal of Human Genetics, 1999
Jean-michel Rozet, Eric H Souied, Isabelle Perrault   +2 more
exaly  

Leber Congenital Amaurosis

2009
Alexander K. C. Leung, William Lane M. Robson, Carsten Büning, Johann Ockenga, Janine Büttner, Hartmut Schmidt, Antonio V. Delgado-Escueta, Katerina Tanya B. Perez-Gosiengfiao, Reyna M. Duron, Jesus Machado-Salas, Iris E. Martinez-Juarez, Ma. Rosa Avila, Angela Vincent, John Newsom-Davis*, Vinzenz Oji, Jochen Utikal, Alexei Gratchev, Sergij Goerdt, Zvi Laron, Walter Lisch, Andreas Janecke, Berthold Seitz, Birgit Lorenz, Markus N. Preising, Nosratola D. Vaziri, John F. MacGregor, Roger A. Freedman, Thomas Klopstock, Arndt Hartmann, Wolfgang Dietmaier, Markus Böhm, Thomas A. Luger, Gudrun Rappold, Andrea Kelly, Changhong Li, Françoise Vuillier, Amos Etzioni, Cord Sunderkötter, Nandhagopal Ramachandiran, Sandra Sirrs, Jan Ehrchen, Stefan Beissert, Fenella Wojnarowska, Gudula Kirtschig, Alexander K. C. Leung, William Lane M. Robson, Laurent Schild, Bernard C. Rossier, Wolfgang Dietmaier, Arndt Hartmann, Hubert Scharnagl, Winfried März, James M. Gilchrist, Rabah Ben Yaou, Gisèle Bonne, Benedikt G. H. Schoser, Flavia Paula, Mariz Vainzof, Maria Rita Passos-Bueno, Mayana Zatz, Tracey Weiler, Patrick Frosk, Kiaus Wrogemann, Cheryl R. Greenberg, Eloisa De Sá Moreira, Mariz Vainzof, Mayana Zatz, Maria Rita Passos-Bueno, Patrick Frosk, Tracey Weiler, Klaus Wrogemann, Cheryl R. Greenberg, Adel Driss, Silke Hofmann, Leena Bruckner‐Tuderman, Takahiro Hamada, John A. McGrath, August H. M. Smelt, Renzo Guerrini, Carla Marini, Elena Parrini, Cord Sunderkötter, Olav A. Gressner, Sören Siegmund, Stephan Haas, Manfred V. Singer, Matthias Wettstein, Olav A. Gressner, Olav A. Gressner, Dieter Häussinger, Massimo Pinzani, Wataru Shimizu, Charles Antzelevitch, Gérard Gacon, Olivier Dorseuil, Rémi Salomon, Joël Lunardi, Rade Tomic, Jesse Roman, Michelle A. Carey, Darryl C. Zeldin, Hideto Kameda, Jonathan Corren, Johannes C. Nossent, Alexander Olivares-Reyes, Tobias A. Rupprecht, Hans-Walter Pfister, Volker Fingerle, Rui-Cheng Ji, Chitra Suri, Marlys H. Witte, Lubomir Sokol, Jürgen Schölmerich, Martina Deckert, Reiner Siebert, Manuel Montesinos-Rongen, Cornelius Courts, Heinrich Schwindt, Anna Brunn, Werner Kempf, Reinhard Dummer, Günter Burg, Sylvain Latour, Karsten Schulmann, Christian Pox, Wolff Schmiegel, Laura M. Tanner   +126 more
openaire   +1 more source

Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis

Human Mutation, 2001
Jeremy Nathans, Steven J. Pittler, Samuel G. Jacobson   +2 more
exaly  

Genetics of Leber congenital amaurosis: an update

Expert Review of Ophthalmology, 2012
Chitra Kannabiran, Subhadra Jalali
exaly  

A missense mutation in GUCY2Dacts as a genetic modifier in RPE65-related Leber Congenital Amaurosis

Ophthalmic Genetics, 2004
Eduardo Silva, Sharola Dharmaraj
exaly