Results 131 to 140 of about 40,110 (209)

Ophthalmic features of cone‐rod dystrophy caused by pathogenic variants in the ALMS1 gene

Acta ophthalmologica, 2018
Fadi Nasser, N. Weisschuh, P. Maffei, G. Milan, Corina Heller, E. Zrenner, S. Kohl, L. Kuehlewein   +7 more
semanticscholar   +1 more source

Cone and cone-rod dystrophies. [PDF]

Journal of Medical Genetics, 1992
openaire   +2 more sources

Cone-Rod Dystrophy 2 [PDF]

, 2020
openaire   +1 more source

Expanding the Clinical and Genetic Spectrum of RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families. [PDF]

Int J Mol Sci, 2020
Iarossi G, Marino V, Maltese PE, Colombo L, D'Esposito F, Manara E, Dhuli K, Modarelli AM, Cennamo G, Magli A, Dell'Orco D, Bertelli M.   +11 more
europepmc   +1 more source

Elimination of a Retinal Riboflavin Binding Protein Exacerbates Degeneration in a Model of Cone-Rod Dystrophy. [PDF]

Invest Ophthalmol Vis Sci, 2020
Genc AM, Makia MS, Sinha T, Conley SM, Al-Ubaidi MR, Naash MI.   +5 more
europepmc   +1 more source

Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene

European Journal of Human Genetics, 2017
Anna Skorczyk-Werner, W. Chiang, Anna Wawrocka, Katarzyna Wicher, M. Jarmuż-Szymczak, M. Kostrzewska-Poczekaj, A. Jamsheer, R. Płoski, M. Rydzanicz, D. Pojda-Wilczek, N. Weisschuh, B. Wissinger, S. Kohl, Jonathan H. Lin, M. Krawczyński   +14 more
semanticscholar   +1 more source

Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility. [PDF]

Hum Mutat, 2020
Ascari G, Peelman F, Farinelli P, Rosseel T, Lambrechts N, Wunderlich KA, Wagner M, Nikopoulos K, Martens P, Balikova I, Derycke L, Holtappels G, Krysko O, Van Laethem T, De Jaegere S, Guillemyn B, De Rycke R, De Bleecker J, Creytens D, Van Dorpe J, Gerris J, Bachert C, Neuhofer C, Walraedt S, Bischoff A, Pedersen LB, Klopstock T, Rivolta C, Leroy BP, De Baere E, Coppieters F.   +30 more
europepmc   +1 more source

Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.

American Journal of Human Genetics, 2016
K. Nikopoulos, P. Farinelli, Basilio Giangreco, C. Tsika, B. Royer-Bertrand, M. Mbefo, Nicola Bedoni, U. Kjellström, I. El Zaoui, Silvio Alessandro Di Gioia, Sara Balzano, Katarina Cisarova, A. Messina, Sarah Decembrini, S. Plainis, Styliani V. Blazaki, M. Khan, Shazia Micheal, K. Boldt, M. Ueffing, A. Moulin, F. Cremers, R. Roepman, Y. Arsenijevic, M. Tsilimbaris, S. Andreasson, C. Rivolta   +26 more
semanticscholar   +1 more source

prominin-1-null Xenopus laevis develop subretinal drusenoid-like deposits, cone-rod dystrophy and RPE atrophy.

J Cell Sci
Carr BJ, Skitsko D, Kriese LM, Song J, Li Z, Ju MJ, Moritz OL.   +6 more
europepmc   +1 more source