(Q37602878)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19098318%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

title

Evaluation of the X-linked high-grade myopia locus (MYP1) with cone dysfunction and color vision deficiencies (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19098318%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19098318%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

9

Stephan Züchner

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19098318%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

author name string

Ravikanth Metlapally

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19098318%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Michel Michaelides

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19098318%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Anuradha Bulusu

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19098318%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Marianne Schwartz

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19098318%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Thomas Rosenberg

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19098318%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

David M Hunt

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19098318%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Anthony T Moore

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19098318%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Catherine Bowes Rickman

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19098318%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Terri L Young

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19098318%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

language of work or name

English

0 references

publication date

20 December 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19098318%20AND%20SRC:MED&resulttype=core&format=json

Investigative Ophthalmology Visual Science

18 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19098318%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

volume

50

1 reference

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18 January 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19098318%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

page(s)

1552-1558

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19098318%20AND%20SRC:MED&resulttype=core&format=json

Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability

18 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934550

Complex trait genetics of refractive error

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934550

Defining the human macula transcriptome and candidate retinal disease genes using EyeSAGE.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934550

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934550

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934550

Circular binary segmentation for the analysis of array-based DNA copy number data

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934550

alpha-Synuclein locus triplication causes Parkinson's disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934550

Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934550

Segmental duplications: an 'expanding' role in genomic instability and disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934550

Structure of chromosomal duplicons and their role in mediating human genomic disorders

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934550

Position of a 'green-red' hybrid gene in the visual pigment array determines colour-vision phenotype

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934550

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934550

Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934550

Molecular genetics of inherited variation in human color vision

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934550

Molecular genetics of human color vision: the genes encoding blue, green, and red pigments

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934550

Genotype-phenotype relationships in human red/green color-vision defects: molecular and psychophysical studies

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934550

Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934550

Identification of a new cancer/testis gene family, CT47, among expressed multicopy genes on the human X chromosome.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934550

Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934550

X-linked myopia in Danish family.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934550

X-linked myopia: Bornholm eye disease. Linkage to DNA markers on the distal part of Xq.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934550

X-linked cone dysfunction syndrome with myopia and protanopia

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934550

An insertion/deletion TEX28 polymorphism and its application to analysis of red/green visual pigment gene arrays

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934550

X-linked high myopia associated with cone dysfunction.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934550

Analysis of L-cone/M-cone visual pigment gene arrays in females by long-range PCR.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934550

NF1 microdeletion breakpoints are clustered at flanking repetitive sequences

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934550

Identification of a gene within the tandem array of red and green color pigment genes

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3934550

Evidence that increased scleral growth underlies visual deprivation myopia in chicks

1 September 2018

1 reference

12 December 2020

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

1 reference

12 December 2020

Pathological consequences of sequence duplications in the human genome

1 reference

12 December 2020

Hereditary pancreatitis caused by triplication of the trypsinogen locus

1 reference

12 December 2020

Identifiers

DOI

10.1167/IOVS.08-2455

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19098318%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19098318%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

PubMed publication ID

19098318

1 reference