(Q35016967)

5 August 2017

A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype (English)

1 reference

5 August 2017

1 reference

1 reference

12

Gudrun Nürnberg

0 references

Peter Nürnberg

13

object named as

Peter Nürnberg

1 reference

5 August 2017

10

Janine Altmüller

1 reference

ORCID Public Data File 2021

5 August 2017

1 reference

author name string

Jan Hauke

1

1 reference

5 August 2017

Andrea Schild

2

1 reference

5 August 2017

Antje Neugebauer

3

1 reference

5 August 2017

Alexandra Lappa

4

1 reference

5 August 2017

Julia Fricke

5

1 reference

5 August 2017

Sascha Fauser

6

1 reference

5 August 2017

Stefanie Rösler

7

1 reference

5 August 2017

Andrea Pannes

8

1 reference

5 August 2017

Dirk Zarrinnam

9

1 reference

5 August 2017

Susanne Motameny

11

1 reference

5 August 2017

Eric Hahnen

14

1 reference

5 August 2017

Bodo B Beck

15

1 reference

5 August 2017

language of work or name

English

0 references

publication date

4 October 2013

1 reference

5 August 2017

1 reference

5 August 2017

8

1 reference

5 August 2017

10

1 reference

5 August 2017

e76414

1 reference

Creative Commons Attribution 4.0 International

5 August 2017

start time

4 October 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790679

The molecular basis of human retinal and vitreoretinal diseases

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790679

The Sequence Alignment/Map format and SAMtools

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790679

The Ca(v)1.4 calcium channel: more than meets the eye.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790679

High-resolution imaging with adaptive optics in patients with inherited retinal degeneration

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790679

A novel CACNA1F gene mutation causes Aland Island eye disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790679

Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790679

X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790679

A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790679

ALOHOMORA: a tool for linkage analysis using 10K SNP array data

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790679

The CACNA1F gene encodes an L-type calcium channel with unique biophysical properties and tissue distribution

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790679

The cone dysfunction syndromes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790679

Genotype-phenotype correlation in British families with X linked congenital stationary night blindness

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790679

A NEW EYE SYNDROME WITH X-CHROMOSOMAL TRANSMISSION. A FAMILY CLAN WITH FUNDUS ALBINISM, FOVEA HYPOPLASIA, NYSTAGMUS, MYOPIA, ASTIGMATISM AND DYSCHROMATOPSIA

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790679

A new genetic locus for X linked progressive cone-rod dystrophy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790679

Mutations in the CACNA1F and NYX genes in British CSNBX families

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790679

Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790679

The human genome browser at UCSC

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790679

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790679

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790679

Autosomal dominant cone-rod dystrophy with mutations in the guanylate cyclase 2D gene encoding retinal guanylate cyclase-1.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790679

Clinical features and a follow-up study in a family with X-linked progressive cone-rod dystrophy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790679

A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790679

Neurotransmitter release at ribbon synapses in the retina

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790679

Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790679

Presynaptic proteins of ribbon synapses in the retina

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790679

Allegro, a new computer program for multipoint linkage analysis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790679

Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790679

An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790679

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790679

Localization of a novel X-linked progressive cone dystrophy gene to Xq27: evidence for genetic heterogeneity

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790679

Conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790679

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790679

[Severe hereditary retinal diseases in childhood].

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790679

The electroretinographic diagnosis of the incomplete form of congenital stationary night blindness

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790679

Myopic Macular Degeneration

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790679

Congenital stationary night blindness with negative electroretinogram. A new classification

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790679

A simple salting out procedure for extracting DNA from human nucleated cells

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790679

Variable expressivity in X-linked congenital stationary night blindness

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790679

Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families

8 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0076414

ISCEV Standard for full-field clinical electroretinography (2008 update).

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0076414

Photoreceptor calcium channels: insight from night blindness.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0076414

Clinical manifestations of a unique X-linked retinal disorder in a large New Zealand family with a novel mutation in CACNA1F, the gene responsible for CSNB2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0076414

Clinical features in high myopia. A Danish cohort study of high myopia cases followed from age 14 to age 60.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0076414

Congenital stationary night blindness in mice - a tale of two Cacna1f mutants

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0076414

Clinical findings in patients with congenital stationary night blindness of the Schubert-Bornschein type

21 January 2018

1 reference

12 December 2020

[Analysis of the human electroretinogram]

1 reference

12 December 2020

GRR: graphical representation of relationship errors

1 reference

12 December 2020

Aland eye disease: no albino misrouting

1 reference

12 December 2020

Progressive cone-rod dystrophy and high myopia in a Finnish family

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0076414

Identifiers

DOI

1 reference

5 August 2017

0 references

1 reference

5 August 2017

1 reference