Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families (Q55670477)

3

object named as

Marie S I Burstedt

0 references

Irina Golovleva

7

object named as

Irina Golovleva

0 references

Konstantin Kadzhaev

2

object named as

Konstantin Kadzhaev

0 references

author name string

Linda Köhn

1

0 references

Susann Haraldsson

4

0 references

Bengt Hallberg

European Journal of Human Genetics

5

0 references

language of work or name

English

0 references

publication date

June 2007

0 references

published in

0 references

volume

15

0 references

issue

6

0 references

page(s)

664-71

0 references

exact match

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201817

0 references

cites work

Clinical study of a large family with autosomal dominant progressive cone degeneration.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201817

A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201817

Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201817

Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201817

Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201817

Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201817

Prevalence of AIPL1 mutations in inherited retinal degenerative disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201817

Localisation of a gene for central areolar choroidal dystrophy to chromosome 17p.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201817

Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201817

Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201817

Identification of a novel family of targets of PYK2 related to Drosophila retinal degeneration B (rdgB) protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201817

Molecular aspects of retinal degenerative diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201817

Hereditary retinal degeneration in Drosophila melanogaster. A mutant defect associated with the phototransduction process

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201817

Cloning and tissue localization of a novel zebrafish RdgB homolog that lacks a phospholipid transfer domain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201817

The role of the Nir/rdgB protein family in membrane trafficking and cytoskeleton remodeling

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201817

The phosphatidylinositol transfer protein domain of Drosophila retinal degeneration B protein is essential for photoreceptor cell survival and recovery from light stimulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201817

Photoreceptor deactivation and retinal degeneration mediated by a photoreceptor-specific protein kinase C.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201817

Phorbol ester induces photoreceptor-specific degeneration in a Drosophila mutant

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201817

Autosomal dominant cone-rod dystrophy due to a missense mutation (R838C) in the guanylate cyclase 2D gene (GUCY2D) with preserved rod function in one branch of the family

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201817

7 January 2021

A gene for autosomal dominant progressive cone dystrophy (CORD5) maps to chromosome 17p12-p13

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201817

7 January 2021

Mapping of autosomal dominant cone degeneration to chromosome 17p

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201817

7 January 2021

Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201817

7 January 2021

Fine localisation of the gene for central areolar choroidal dystrophy on chromosome 17p.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201817

7 January 2021

Autosomal dominant cone-rod dystrophy associated with mutations in codon 244 (Asn244His) and codon 184 (Tyr184Ser) of the peripherin/RDS gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201817

7 January 2021