Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations (Q34702170)

4 August 2017

Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations (English)

1 reference

4 August 2017

1 reference

1 reference

Amer Omar

9

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Susanne Roosing

object named as

Susanne Roosing

7

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Joris A Veltman

object named as

Joris A Veltman

6

0 references

Robert Koenekoop

2

object named as

Robert K Koenekoop

1 reference

4 August 2017

Karin W Littink

1

1 reference

4 August 2017

L Ingeborgh van den Born

3

1 reference

4 August 2017

Rob W J Collin

4

1 reference

4 August 2017

Luminita Moruz

5

1 reference

4 August 2017

Marijke N Zonneveld

8

1 reference

4 August 2017

Mahshad Darvish

10

1 reference

4 August 2017

Irma Lopez

11

1 reference

4 August 2017

Hester Y Kroes

12

1 reference

4 August 2017

Maria M van Genderen

13

1 reference

4 August 2017

Carel B Hoyng

14

1 reference

4 August 2017

Klaus Rohrschneider

15

1 reference

4 August 2017

Mary J van Schooneveld

16

1 reference

4 August 2017

Frans P M Cremers

17

1 reference

4 August 2017

Anneke I den Hollander

18

1 reference

4 August 2017

language of work or name

English

0 references

publication date

16 June 2010

1 reference

Investigative Ophthalmology Visual Science

4 August 2017

1 reference

4 August 2017

51

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4 August 2017

11

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4 August 2017

5943-5951

1 reference

EYS is a major gene for rod-cone dystrophies in France.

4 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061516

Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061516

Sequencing technologies - the next generation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061516

Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061516

Cone-rod dystrophy and a frameshift mutation in the PROM1 gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061516

Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061516

Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061516

A systematic approach to mapping recessive disease genes in individuals from outbred populations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061516

Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061516

Runs of homozygosity in European populations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061516

Runs of homozygosity reveal highly penetrant recessive loci in schizophrenia.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061516

PLINK: a tool set for whole-genome association and population-based linkage analyses

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061516

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061516

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061516

Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061516

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061516

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061516

Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061516

Quantification of homozygosity in consanguineous individuals with autosomal recessive disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061516

Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061516

Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061516

Genotyping microarray (gene chip) for the ABCR (ABCA4) gene.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061516

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061516

ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061516

CNGA3 mutations in hereditary cone photoreceptor disorders

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061516

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061516

Long homozygous chromosomal segments in reference families from the centre d'Etude du polymorphisme humain

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061516

Primer3 on the WWW for general users and for biologist programmers

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061516

Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061516

Clinical subtypes of cone-rod dystrophy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061516

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061516

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061516

A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061516

Amino acid substitution matrices from protein blocks

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061516

Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061516

Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061516

CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061516

A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061516

Amplification-refractory mutation system (ARMS) analysis of point mutations.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061516

Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061516

Estimating human inbreeding coefficients: comparison of genealogical and marker heterozygosity approaches.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061516

Refinement of the locus for autosomal recessive cone-rod dystrophy (CORD8) linked to chromosome 1q23-q24 in a Pakistani family and exclusion of candidate genes.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061516

Extended tracts of homozygosity in outbred human populations

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061516

Molecular analysis of the ABCA4 gene in Turkish patients with Stargardt disease and retinitis pigmentosa

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061516

The ABCA4 gene in autosomal recessive cone-rod dystrophies

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061516

Phenotypic spectrum of autosomal recessive cone-rod dystrophies caused by mutations in the ABCA4 (ABCR) gene.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3061516

Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany

26 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20554613

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Novel locus for autosomal recessive cone-rod dystrophy CORD8 mapping to chromosome 1q12-Q24

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20554613

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Long contiguous stretches of homozygosity in the human genome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20554613

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1167/IOVS.10-5797

1 reference

4 August 2017

1 reference

4 August 2017

1 reference