Skip to search formSkip to main content
You are currently offline. Some features of the site may not work correctly.

MCDR1 gene

Known as: MCDR1, macular dystrophy, retinal, 1 (North Carolina type) 
 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2016
Highly Cited
2016
PURPOSE To identify specific mutations causing North Carolina macular dystrophy (NCMD). DESIGN Whole-genome sequencing coupled… Expand
  • table 1
  • figure 1
  • figure 2
  • figure 3
  • figure 4
2011
2011
PURPOSE To describe clinical characteristics, including visual acuity (VA), genetic analysis, and management of complications… Expand
  • figure 1
  • table 1
  • table 2
  • figure 2
  • figure 4
2010
2010
Purpose To describe the phenotype of a family with an autosomal dominant macular dystrophy and identify the chromosomal location… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • table 2
2009
2009
PURPOSE To characterize the clinical phenotypes and genotype of a large family with North Carolina macular dystrophy (NCMD… Expand
2008
2008
North Carolina macular dystrophy (NCMD) is an autosomal dominant macular disease, was mapped to 6q14-q16.2, the disease-causing… Expand
  • table 1
  • figure 1
  • figure 1
  • figure 2
  • table 2
2003
2003
Aim: To characterise the phenotype and identify the underlying genetic defect in a family with deafness segregating with a North… Expand
1999
1999
PURPOSE We previously reported linkage of North Carolina macular dystrophy in a single isolated family to a broad region on… Expand
  • figure 1
  • table 1
  • table 2
  • figure 2
  • figure 3
1998
1998
PURPOSE To describe the clinical findings of an autosomal dominant macular dystrophy in a family of Mayan Indian ancestry in… Expand
1998
1998
We have recently characterised the genomic organisation of a novel interphotoreceptor matrix proteoglycan, IMPG1, and have mapped… Expand
1998
1998
AIMS To document the phenotype of an autosomal dominant macular dystrophy diagnosed as having North Carolina macular dystrophy… Expand