Results 111 to 120 of about 37,333 (227)

Analysis of Early Cone Dysfunction in an In Vivo Model of Rod-Cone Dystrophy [PDF]

, 2020
Mark Hassall, Michelle E. McClements, Alun R. Barnard, Maria I. Patrício, Sher A. Aslam, Robert E. MacLaren   +5 more
openalex   +1 more source

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

A novel KCNV2 mutation in a patient taking hydroxychloroquine associated with cone dystrophy with supernormal rod response [PDF]

, 2021
Pei‐Kang Liu, Joseph Ryu, Lung‐Kun Yeh, Kuan‐Jen Chen, Stephen H. Tsang, Laura Liu, Nan‐Kai Wang   +6 more
openalex   +1 more source

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

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

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

Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy [PDF]

, 2010
Elsebet Østergaard, Mustafa Batbayli, Morten Dunø, Kaj Vilhelmsen, Thomas Rosenberg   +4 more
openalex   +1 more source