Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma (Q24534513)

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English	Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma	scientific article

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scholarly article

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PubMed publication ID

11007653

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5 July 2017

title

Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma (English)

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PubMed publication ID

11007653

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5 July 2017

author name string

Lehmann OJ

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11007653

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Ebenezer ND

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11007653

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5 July 2017

Jordan T

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11007653

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Fox M

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Ocaka L

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11007653

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5 July 2017

Payne A

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Leroy BP

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Clark BJ

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11007653

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Hitchings RA

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11007653

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Povey S

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Khaw PT

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Bhattacharya SS

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12

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11007653

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5 July 2017

language of work or name

English

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publication date

27 September 2000

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Europe PubMed Central

PubMed publication ID

11007653

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5 July 2017

published in

American Journal of Human Genetics

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11007653

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5 July 2017

volume

67

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11007653

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5 July 2017

issue

5

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11007653

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5 July 2017

page(s)

1129-1135

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11007653

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cites work

Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly

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PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288555

retrieved

24 March 2017

Familial glaucoma iridogoniodysplasia maps to a 6p25 region implicated in primary congenital glaucoma and iridogoniodysgenesis anomaly

1 reference

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PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288555

retrieved

24 March 2017

Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25

1 reference

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PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288555

retrieved

24 March 2017

The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

1 reference

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PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288555

retrieved

24 March 2017

Easy calculations of lod scores and genetic risks on small computers

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PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288555

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7 April 2017

Glaucoma genetics: where are we? Where will we go?

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288555

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27 September 2017

Number of people with glaucoma worldwide

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288555

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27 September 2017

Differential DNA sequence deletions from chromosomes 3, 11, 13, and 17 in squamous-cell carcinoma, large-cell carcinoma, and adenocarcinoma of the human lung

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PubMed Central

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27 September 2017

An interstitial deletion of 6p24-p25 proximal to the FKHL7 locus and including AP-2alpha that affects anterior eye chamber development

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288555

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30 May 2018

Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities

1 reference

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288555

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30 May 2018

Co-localisation of CCG repeats and chromosome deletion breakpoints in Jacobsen syndrome: evidence for a common mechanism of chromosome breakage

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/11007653

retrieved

12 December 2020

based on heuristic

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DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/11007653

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic Risk of Primary Open-angle Glaucoma

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/11007653

retrieved

12 December 2020

based on heuristic

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Identifiers

DOI

10.1086/321194

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stated in

Europe PubMed Central

PubMed publication ID

11007653

retrieved

5 July 2017

OpenCitations bibliographic resource ID

1253446

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1253446

PMC publication ID

1288555

1 reference

stated in

Europe PubMed Central

PubMed publication ID

11007653

retrieved

5 July 2017

PubMed publication ID

11007653

1 reference

stated in

Europe PubMed Central

PubMed publication ID

11007653

retrieved

5 July 2017

 

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