(Q53678997)

17 May 2018

title

CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome. (English)

1 reference

17 May 2018

Duane retraction syndrome

main subject

0 references

author name string

Noriko Miyake

1

1 reference

17 May 2018

Caroline Andrews

2

1 reference

17 May 2018

Wen Fan

3

1 reference

17 May 2018

Wei He

4

1 reference

17 May 2018

Wai-Man Chan

5

1 reference

17 May 2018

Elizabeth C Engle

6

1 reference

17 May 2018

language of work or name

English

0 references

publication date

1 January 2010

1 reference

17 May 2018

American Journal of Medical Genetics

published in

1 reference

17 May 2018

volume

152A

1 reference

17 May 2018

issue

1

1 reference

17 May 2018

page(s)

215-217

1 reference

17 May 2018

Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801889

Two pedigrees segregating Duane's retraction syndrome as a dominant trait map to the DURS2 genetic locus

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801889

Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801889

No evidence of SALL4-mutations in isolated sporadic duane retraction "syndrome" (DURS)

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801889

A peptidase gene in chromosome 8q is disrupted by a balanced translocation in a duane syndrome patient

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801889

Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801889

Okihiro syndrome is caused by SALL4 mutations

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801889

Localization of a gene for Duane retraction syndrome to chromosome 2q31

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801889

Bilateral Duane's retraction syndrome. A clinical-pathologic case report

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801889

Inheritance of Duane's syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801889

Electrophysiology of the retraction syndromes

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801889

Congenital Anomalies in Duane's Retraction Syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801889

Thalidomide embryopathy: a model for the study of congenital incomitant horizontal strabismus

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801889

Unilateral Duane's retraction syndrome (Type 1).

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2801889

Magnetic resonance imaging evidence for widespread orbital dysinnervation in dominant Duane's retraction syndrome linked to the DURS2 locus

13 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.33168

Association of familial duane anomaly and urogenital abnormalities with a bisatellited marker derived from chromosome 22

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.33168

Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.33168

Duane's retraction syndrome

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20034095

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

HOXA1 mutations are not a common cause of Duane anomaly.

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20034095

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20034095

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/AJMG.A.33168

1 reference

17 May 2018

PMC publication ID

2801889

1 reference

17 May 2018

PubMed publication ID

20034095

1 reference

17 May 2018