(Q46137938)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19184602%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

review article

1 reference

title

Genetic causes of hereditary cone and cone-rod dystrophies (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19184602%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19184602%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

author name string

S Kohl

series ordinal

1

1 reference

19 December 2017

http://europepmc.org/abstract/MED/19184602

language of work or name

German

0 references

publication date

1 February 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19184602%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19184602%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

volume

106

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19184602%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19184602%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

page(s)

109-115

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19184602%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s00347-008-1864-2

20 January 2020

exact match

0 references

cites work

Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans

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12 December 2020

1 reference

12 December 2020

The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene

1 reference

12 December 2020

X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15

1 reference

12 December 2020

Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14.

1 reference

12 December 2020

Mutations in the RPGR gene cause X-linked cone dystrophy

1 reference

12 December 2020

Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration.

1 reference

12 December 2020

Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1

1 reference

12 December 2020

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

1 reference

12 December 2020

Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.

1 reference

12 December 2020

A retGC-1 mutation in autosomal dominant cone-rod dystrophy.

1 reference

12 December 2020

Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2)

1 reference

12 December 2020

Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy

1 reference

12 December 2020

CNGA3 mutations in hereditary cone photoreceptor disorders

1 reference

12 December 2020

Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations.

1 reference

12 December 2020

HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model

1 reference

12 December 2020

Progressive cone dystrophy associated with mutation in CNGB3.

1 reference

12 December 2020

Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.

1 reference

12 December 2020

Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the alpha-subunit of cone specific transducin (GNAT2).

1 reference

12 December 2020

Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel

1 reference

12 December 2020

Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases

1 reference

12 December 2020

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

1 reference

12 December 2020

Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies

1 reference

12 December 2020

Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy

1 reference

12 December 2020

The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene

1 reference

12 December 2020

Prevalence of AIPL1 mutations in inherited retinal degenerative disease

1 reference

12 December 2020

ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.

1 reference

12 December 2020

Genetic basis of total colourblindness among the Pingelapese islanders

1 reference

12 December 2020

Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration

1 reference

12 December 2020

Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy

1 reference

12 December 2020

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy

1 reference

12 December 2020

Molecular genetics of human blue cone monochromacy

1 reference

12 December 2020

A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1

1 reference

12 December 2020

Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia

1 reference

12 December 2020

10.1007/S00347-008-1864-2

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19184602%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

1 reference