(Q36453168)

14 August 2017

Two novel CHN1 mutations in 2 families with Duane retraction syndrome (English)

1 reference

Duane retraction syndrome

14 August 2017

0 references

author name string

Wai-Man Chan

1

1 reference

14 August 2017

Noriko Miyake

2

1 reference

14 August 2017

Lily Zhu-Tam

3

1 reference

14 August 2017

Caroline Andrews

4

1 reference

14 August 2017

Elizabeth C Engle

5

1 reference

14 August 2017

language of work or name

English

0 references

publication date

1 May 2011

1 reference

14 August 2017

1 reference

14 August 2017

129

1 reference

14 August 2017

5

1 reference

14 August 2017

649-652

1 reference

Evidence of an asymmetrical endophenotype in congenital fibrosis of extraocular muscles type 3 resulting from TUBB3 mutations

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517173

Identification of an autoinhibitory mechanism that restricts C1 domain-mediated activation of the Rac-GAP alpha2-chimaerin

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517173

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517173

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517173

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517173

The genetic basis of complex strabismus

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517173

Structural mechanism for lipid activation of the Rac-specific GAP, beta2-chimaerin

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517173

Human non-synonymous SNPs: server and survey

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517173

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517173

Inheritance of Duane's syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517173

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517173

Clinical diversity of hereditary Duane's retraction syndrome

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517173

Alpha2-chimaerin, cyclin-dependent Kinase 5/p35, and its target collapsin response mediator protein-2 are essential components in semaphorin 3A-induced growth-cone collapse.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517173

Unilateral Duane's retraction syndrome (Type 1).

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517173

Duane's retraction syndrome

21 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21555619

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Bilateral familial Duane's retraction syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21555619

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1001/ARCHOPHTHALMOL.2011.84

1 reference

14 August 2017

1 reference

14 August 2017

PubMed publication ID

21555619

1 reference