Results 91 to 100 of about 1,104 (159)

A GUCY2D variant associated cone-rod dystrophy with electronegative ERG: A case report and review

American Journal of Ophthalmology Case Reports
Purpose: Cone-rod dystrophies (CORD) are inherited retinal dystrophies characterized by primary cone degeneration with secondary rod involvement. We report two patients from the same family with a dominant variant in the guanylate cyclase 2D (GUCY2D ...
Pei-Liang Wu, Pei-Hsuan Lin, Winston Lee, Ethan Hung-Hsi Wang, Eugene Yu-Chuan Kang, Laura Liu, Nan-Kai Wang   +6 more
doaj  

A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family.

Molecular vision, 2012
To identify the genetic locus and mutation responsible for autosomal dominant cone dystrophy (adCOD) in a large Chinese family and to describe the phenotypes of the patients.Genomic DNA and clinical data were collected from the family. Genome-wide linkage analysis was performed to map the disease locus, and Sanger dideoxy sequencing was used to detect ...
Xueshan, Xiao, Xiangming, Guo, Xiaoyun, Jia, Shiqiang, Li, Panfeng, Wang, Qingjiong, Zhang   +5 more
openaire   +1 more source

Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin [PDF]

, 2002
Sylvain Hanein, Isabelle Perrault, P�ivi Olsen, Tuija Löppönen, Marja Hietala, S. Gerber, Marc Jeanpierre, Fabienne Barbet, Dominique Ducroq, S�lim Hakiki, Arnold Munnich, Jean‐Michel Rozet, Josseline Kaplan   +12 more
openalex   +1 more source

Occult Macular Dysfunction Syndrome: Identification of Multiple Pathologies in a Clinical Spectrum of Macular Dysfunction with Normal Fundus in East Asian Patients: EAOMD Report No. 5. [PDF]

Genes (Basel), 2023
Fujinami-Yokokawa Y, Yang L, Joo K, Tsunoda K, Liu X, Kondo M, Ahn SJ, Li H, Park KH, Tachimori H, Miyata H, Woo SJ, Sui R, Fujinami K.   +13 more
europepmc   +1 more source

GUCY2D Cone–Rod Dystrophy-6 Is a “Phototransduction Disease” Triggered by Abnormal Calcium Feedback on Retinal Membrane Guanylyl Cyclase 1 [PDF]

, 2018
Shinya Sato, Igor V. Peshenko, Elena V. Olshevskaya, Vladimir J. Kefalov, Alexander M. Dizhoor   +4 more
openalex   +1 more source

Phenotype of autosomal dominant cone–rod dystrophy due to the R838C mutation of the GUCY2D gene encoding retinal guanylate cyclase-1 [PDF]

, 2006
Michael Smith, Neil V. Whittock, A. Searle, Martin T. Croft, C Brewer, Michael D. Cole   +5 more
openalex   +1 more source

Differential Macular Morphology in Patients withRPE65-,CEP290-,GUCY2D-, andAIPL1-Related Leber Congenital Amaurosis

, 2010
Sirichai Pasadhika, Gerald A. Fishman, Edwin M. Stone, Martin Lindeman, Ruth Zelkha, Irma López, Robert K. Koenekoop, Mahnaz Shahidi   +7 more
openalex   +1 more source

A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing. [PDF]

Genes (Basel), 2023
Areblom M, Kjellström S, Andréasson S, Öhberg A, Gränse L, Kjellström U.   +5 more
europepmc   +1 more source

Somatic Gene Editing of GUCY2D by AAV-CRISPR/Cas9 Alters Retinal Structure and Function in Mouse and Macaque [PDF]

, 2018
K. Tyler McCullough, Sanford L. Boye, Diego Fajardo, Kaitlyn R. Calabro, Jim Peterson, Christianne E. Strang, Dibyendu Chakraborty, Sebastian Gloskowski, Scott Haskett, Steven J. Samuelsson, Haiyan Jiang, C. Douglas Witherspoon, Paul D. Gamlin, Morgan L. Maeder, Sanford L. Boye   +14 more
openalex   +1 more source

Clinical and Genetic Characteristics of 15 Affected Patients From 12 Japanese Families with GUCY2D-Associated Retinal Disorder [PDF]

, 2020
Xiao Liu, Kaoru Fujinami, Kazuki Kuniyoshi, Mineo Kondo, Shinji Ueno, Takaaki Hayashi, Kiyofumi Mochizuki, Shuhei Kameya, Lizhu Yang, Yu Fujinami‐Yokokawa, Gavin Arno, Nikolas Pontikos, Hiroyuki Sakuramoto, Taro Kominami, Hiroko Terasaki, Satoshi Katagiri, Kei Mizobuchi, Natsuko Nakamura, Kazutoshi Yoshitake, Yozo Miyake, Shiying Li, Toshihide Kurihara, Kazuo Tsubota, Takeshi Iwata, Kazushige Tsunoda   +24 more
openalex   +1 more source