(Q33691037)

28 July 2017

title

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

1 reference

Duane retraction syndrome

28 July 2017

main subject

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author name string

Elizabeth C Engle

1

1 reference

28 July 2017

Caroline Andrews

2

1 reference

28 July 2017

Krystal Law

3

1 reference

28 July 2017

Joseph L Demer

4

1 reference

28 July 2017

language of work or name

English

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publication date

1 January 2007

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Investigative Ophthalmology Visual Science

28 July 2017

published in

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28 July 2017

volume

48

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28 July 2017

issue

1

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28 July 2017

page(s)

189-193

1 reference

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

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829295

Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829295

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829295

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829295

Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829295

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829295

Okihiro syndrome is caused by SALL4 mutations

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829295

Congenital anomalies in patients with Duane retraction syndrome and their relatives

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829295

Clinical diversity of hereditary Duane's retraction syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829295

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829295

Congenital deficiency of abduction, associated with impairment of adduction, retraction movements, contraction of the palpebral fissure and oblique movements of the eye. 1905.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829295

Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829295

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829295

Easy calculations of lod scores and genetic risks on small computers

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829295

Inheritance of Duane's syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829295

Heredity in Duane's syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829295

Electrophysiology of the retraction syndromes

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829295

Congenital Anomalies in Duane's Retraction Syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829295

Inherited Duane's Syndrome: Mirror-Like Localization of Oculomotor Disturbances in Monozygotic Twins

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829295

Absence of the abducens nerve in Duane syndrome verified by magnetic resonance imaging

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829295

Unilateral Duane's retraction syndrome (Type 1).

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2829295

Monozygotic twins concordant for bilateral Duane's retraction syndrome

30 October 2018

1 reference

12 December 2020

Cine magnetic resonance imaging of ocular motility

1 reference

12 December 2020

Cine magnetic resonance imaging of eye movements

1 reference

12 December 2020

Video loop MRI of ocular motility disorders

1 reference

12 December 2020

[Enophthalmic familial abductor parakinesis in twins and a case of ocular albinism in another family]

1 reference

12 December 2020

HOXA1 mutations are not a common cause of Duane anomaly.

1 reference

12 December 2020

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

1 reference

12 December 2020

Duane's retraction syndrome -- plus

1 reference

12 December 2020

Identifiers

DOI

10.1167/IOVS.06-0631

1 reference

28 July 2017

1 reference

28 July 2017

1 reference