(Q37452617)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19956409%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

title

A novel VSX1 mutation identified in an individual with keratoconus in India (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19956409%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

0 references

Preeti Paliwal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19956409%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Anuradha Singh

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19956409%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Radhika Tandon

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19956409%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Jeevan S Titiyal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19956409%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Arundhati Sharma

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19956409%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

publication date

28 November 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19956409%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19956409%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

volume

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19956409%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

page(s)

2475-2479

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19956409%20AND%20SRC:MED&resulttype=core&format=json

CRB1 gene mutations are associated with keratoconus in patients with leber congenital amaurosis

13 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2786886

Molecular analysis of the VSX1 gene in familial keratoconus

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2786886

No VSX1 gene mutations associated with keratoconus

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2786886

Trends in the indications for penetrating keratoplasty, 1980-2001.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2786886

VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2786886

The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2786886

VSX1: a gene for posterior polymorphous dystrophy and keratoconus

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2786886

Indications for penetrating keratoplasty and associated procedures, 1996-2000.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2786886

The genetics of keratoconus

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2786886

RINX(VSX1), a novel homeobox gene expressed in the inner nuclear layer of the adult retina

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2786886

Primer3 on the WWW for general users and for biologist programmers

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2786886

Baseline findings in the Collaborative Longitudinal Evaluation of Keratoconus (CLEK) Study

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2786886

VSX1 gene variants are associated with keratoconus in unrelated Korean patients

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2786886

The D144E substitution in the VSX1 gene: a non-pathogenic variant or a disease causing mutation?

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2786886

Three VSX1 gene mutations, L159M, R166W, and H244R, are not associated with keratoconus.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2786886

Expression of rinx/vsx1 during postnatal eye development in cone-bipolar, differentiating ganglion, and lens fiber cells

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2786886

A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2786886

Familial keratoconus with cataract: linkage to the long arm of chromosome 15 and exclusion of candidate genes.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2786886

Identity-by-descent approach to gene localisation in eight individuals affected by keratoconus from north-west Tasmania, Australia.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2786886

A locus for autosomal dominant keratoconus: linkage to 16q22.3-q23.1 in Finnish families

2 September 2018

1 reference

12 December 2020

The genetics of keratoconus

1 reference

12 December 2020

[Accuracy of videokeratographic quantitative criteria for detection of keratoconus suspects in families with keratoconus]

1 reference

12 December 2020

Molecular Genetic Analysis in Autosomal Dominant Keratoconus

1 reference

12 December 2020

1 reference

12 December 2020

Genomewide linkage scan in a multigeneration Caucasian pedigree identifies a novel locus for keratoconus on chromosome 5q14.3-q21.1.

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19956409%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

PubMed publication ID

19956409

1 reference