Results 151 to 160 of about 10,452 (214)

GUCY2D mutations in retinal guanylyl cyclase 1 provide biochemical reasons for dominant cone-rod dystrophy but not for stationary night blindness. [PDF]

J Biol Chem, 2020
Peshenko IV, Olshevskaya EV, Dizhoor AM.
europepmc   +1 more source

A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium. [PDF]

Invest Ophthalmol Vis Sci, 2020
Jespersgaard C, Hey AB, Ilginis T, Hjortshøj TD, Fang M, Bertelsen M, Bech N, Jensen H, Larsen LJ, Tümer Z, Rosenberg T, Brøndum-Nielsen K, Møller LB, Grønskov K.   +13 more
europepmc   +1 more source

Homozygous Variant in ARL3 Causes Autosomal Recessive Cone Rod Dystrophy. [PDF]

Invest Ophthalmol Vis Sci, 2019
Sheikh SA, Sisk RA, Schiavon CR, Waryah YM, Usmani MA, Steel DH, Sayer JA, Narsani AK, Hufnagel RB, Riazuddin S, Kahn RA, Waryah AM, Ahmed ZM.   +12 more
europepmc   +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

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

Characteristic Ocular Features in Cases of Autosomal Recessive PROM1 Cone-Rod Dystrophy. [PDF]

Invest Ophthalmol Vis Sci, 2019
Collison FT, Fishman GA, Nagasaki T, Zernant J, McAnany JJ, Park JC, Allikmets R.   +6 more
europepmc   +1 more source

NMNAT1 variants cause cone and cone-rod dystrophy. [PDF]

Eur J Hum Genet, 2018
Nash BM, Symes R, Goel H, Dinger ME, Bennetts B, Grigg JR, Jamieson RV.   +6 more
europepmc   +1 more source

A novel CRX frameshift mutation causing cone-rod dystrophy in a Chinese family: A case report. [PDF]

Medicine (Baltimore), 2018
Wang L, Qi A, Pan H, Liu B, Feng J, Chen W, Wang B.   +6 more
europepmc   +1 more source

Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies. [PDF]

Sci Rep, 2019
Mizobuchi K, Hayashi T, Katagiri S, Yoshitake K, Fujinami K, Yang L, Kuniyoshi K, Shinoda K, Machida S, Kondo M, Ueno S, Terasaki H, Matsuura T, Tsunoda K, Iwata T, Nakano T.   +15 more
europepmc   +1 more source