Results 91 to 100 of about 15,202 (200)

Pathogenicity and functional analysis of CFAP410 mutations causing cone-rod dystrophy with macular staphyloma. [PDF]

Front Med (Lausanne), 2023
Yang S, Li Y, Yang L, Guo Q, You Y, Lei B.   +5 more
europepmc   +1 more source

Four different gene-related cone-rod dystrophy: clinical and genetic findings in six Chinese families with diverse modes of inheritance. [PDF]

Front Genet, 2023
Li Z, Cheng W, Zi F, Wang J, Huang X, Sheng X, Rong W.   +6 more
europepmc   +1 more source

Development of an AAV-CRISPR-Cas9-based treatment for dominant cone-rod dystrophy 6. [PDF]

Mol Ther Methods Clin Dev, 2023
Mellen RW, Calabro KR, McCullough KT, Crosson SM, Cova A, Fajardo D, Xu E, Boye SL, Boye SE.   +8 more
europepmc   +1 more source

Keratoconus associated with cone-rod dystrophy

Asian Journal of Ophthalmology, 2015
Keratoconus is known to be associated with a variety of ocular and systemic disorders. The common posterior segment disorders known to be associated with keratoconus are retinitis pigmentosa, macular coloboma, Leber’s congenital amaurosis, retinal aplasia and retrolental fibroplasias.
openaire   +2 more sources

Establishment of a human induced pluripotent stem cell line (ABi004-A) carrying a compound heterozygous mutation in the KCNV2 gene

Stem Cell Research
Pathogenic variants in the KCNV2 gene can cause a rare retinal dystrophy that can be inherited recessively, known as cone dystrophy with supernormal rod response (CDSRR).
Almaqdad Alsalloum, Kristina Shefer, Pavel Bogdanov, Natalia Mingaleva, Alexander Kim, Sofya Feoktistova, Olga Mityaeva, Pavel Volchkov   +7 more
doaj   +1 more source

Phenotypic variability in PRPH2 as demonstrated by a family with incomplete penetrance of autosomal dominant cone-rod dystrophy. [PDF]

Doc Ophthalmol, 2023
Soucy M, Kolesnikova M, Kim AH, Tsang SH.   +3 more
europepmc   +1 more source

CERKL gene knockout disturbs photoreceptor outer segment phagocytosis and causes rod-cone dystrophy in zebrafish [PDF]

, 2017
Biswas, Lincoln, Han, Shanshan, Hu, Xuebin, Huang, Yuwen, Jiang, Tao, Li, Chang, Liu, Fei, Liu, Jing Yu, Liu, Mugen, Liu, Xiliang, Liu, Ying, Lu, Zhaojing, Reilly, James, Shu, Xinhua, Tang, Zhaohui, Wang, Lei, Wong, Fulton, Yu, Shanshan   +17 more
core   +1 more source

Two siblings with late-onset cone–rod dystrophy and no visible macular degeneration

Clinical Ophthalmology, 2013
Hiroyuki Sakuramoto,1 Kazuki Kuniyoshi,1 Kazushige Tsunoda,2 Masakazu Akahori,2 Takeshi Iwata,2 Yoshikazu Shimomura1 1Department of Ophthalmology, Kinki University Faculty of Medicine, Osaka-Sayama City, Osaka, Japan; 2National Institute of Sensory ...
Sakuramoto H, Kuniyoshi K, Tsunoda K, Akahori M, Iwata T, Shimomura Y   +5 more
doaj  

CDHR1-Related Cone-Rod Dystrophy: Clinical Characteristics, Imaging Findings, and Genetic Test Results-A Case Report. [PDF]

Medicina (Kaunas), 2023
Sobolewska M, Świerczyńska M, Dorecka M, Wyględowska-Promieńska D, Krawczyński MR, Mrukwa-Kominek E.   +5 more
europepmc   +1 more source

Natural disease history of a canine model of oligogenic RPGRIP1-cone-rod dystrophy establishes variable effects of previously and newly mapped modifier loci. [PDF]

Hum Mol Genet, 2023
Ripolles-Garcia A, Murgiano L, Ziolkowska N, Marinho FP, Roszak K, Iffrig S, Aguirre GD, Miyadera K.   +7 more
europepmc   +1 more source