Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands.

Experimental eye research - 1 May 2016

Huang Li, Xiao Xueshan, Li Shiqiang, Jia Xiaoyun, Wang Panfeng, Sun Wenmin, Xu Yan, Xin Wei, Guo Xiangming, Zhang Qingjiong

Abstract excerpt

Cone-rod dystrophy (CORD) is a common form of inherited retinal degeneration. Previously, we have conducted serial mutational analysis in probands with CORD either by Sanger sequencing or whole exome sequencing (WES). In the current study, variants in all genes from RetNet were selected from the whole exome sequencing data of 108 CORD probands (including 61 probands reported here for the first time) and were...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Asian People
Share to Cone-Rod Dystrophies

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Eye Proteins

Share to Molecular Biology

Share to Pedigree

Share to Retinal Degeneration

Source

Identifiers

PMID: 26992781
DOI: 10.1016/j.exer.2016.03.015

Genes

ALMS1
CNGA3
RDH12
ABCA4
CNGB3
CRX
KCNV2
RPGRIP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands.PMID 26992781Read ↗

Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes.Semantic proximity Read ↗

The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment.Semantic proximity Read ↗

Screening for variants in 20 genes in 130 unrelated patients with cone-rod dystrophy.Semantic proximity Read ↗

Novel GUCA1A mutation identified in a Chinese family with cone-rod dystrophy.Semantic proximity Read ↗

Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family.Semantic proximity Read ↗

A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype.Semantic proximity Read ↗

Identification of a novel CACNA1F mutation in a Chinese family with CORDX3.Semantic proximity Read ↗

Novel recessive cone-rod dystrophy caused by POC1B mutation.Semantic proximity Read ↗

Novel complex GUCY2D mutation in Japanese family with cone-rod dystrophy.Semantic proximity Read ↗

Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophiesSemantic proximity Read ↗

CRX variants in cone-rod dystrophy and mutation overview.Semantic proximity Read ↗

Clinical characteristics, imaging findings, and genetic results of a patient with CEP290-related cone-rod dystrophy.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.