(Q53298629)

13 May 2018

title

110th ENMC International Workshop: the congenital cranial dysinnervation disorders (CCDDs). Naarden, The Netherlands, 25-27 October, 2002. (English)

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13 May 2018

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Gutowski NJ

1

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13 May 2018

Bosley TM

series ordinal

2

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13 May 2018

Engle EC

series ordinal

3

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13 May 2018

publication date

1 September 2003

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13 May 2018

published in

Neuromuscular Disorders

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13 May 2018

volume

13

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13 May 2018

page(s)

573-578

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13 May 2018

issue

7-8

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13 May 2018

Applications of molecular genetics to the understanding of congenital ocular motility disorders

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Möbius syndrome. Neuropathologic observations

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

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Unilateral Duane's retraction syndrome (Type 1).

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Bilateral congenital absence of the abducens nerve.

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Electrophysiology of the retraction syndromes

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7 January 2021

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Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12.

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7 January 2021

Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles.

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7 January 2021

Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13.

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Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2

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7 January 2021

Familial paralysis of horizontal gaze: Associated with pendular nystagmus, progressive scoliosis, and facial contraction with myokymia

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7 January 2021

Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25

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Brainstem hypoplasia in familial horizontal gaze palsy and scoliosis.

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CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX

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7 January 2021

A clinically variant fibrosis syndrome in a Turkish family maps to the CFEOM1 locus on chromosome 12

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7 January 2021

Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus

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7 January 2021

A novel X-linked dominant condition: X-linked congenital isolated ptosis

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7 January 2021

A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene.

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7 January 2021

Detection of an insertion deletion of region 8q13-q21.2 in a patient with Duane syndrome: implications for mapping and cloning a Duane gene

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7 January 2021

Narrowing the Duane syndrome critical region at chromosome 8q13 down to 40 kb

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7 January 2021

Ophthalmic manifestations of trisomy 8 mosaic syndrome

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Clinical diversity of hereditary Duane's retraction syndrome

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7 January 2021

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

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7 January 2021

Okihiro syndrome is caused by SALL4 mutations

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7 January 2021

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

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7 January 2021

Duane retraction syndrome, a new feature in 22q11 deletion syndrome?

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7 January 2021

Duane's retraction syndrome associated with chromosome 4q27-31 segment deletion.

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7 January 2021

A case report of both Duane's syndrome and Rieger's anomaly in a single patient

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7 January 2021

Localization of a gene for Möbius syndrome to chromosome 3q by linkage analysis in a Dutch family

1 reference

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7 January 2021

A second gene for autosomal dominant Möbius syndrome is localized to chromosome 10q, in a Dutch family

1 reference

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7 January 2021

Three-generation pedigree of a Möbius syndrome variant with chromosome translocation

1 reference

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7 January 2021

Deletion of chromosome 13 in Moebius syndrome

1 reference

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7 January 2021

Broad-spectrum Möbius syndrome associated with a 1;11 chromosome translocation.

1 reference

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7 January 2021

Möbius-like syndrome associated with a 1;2 chromosome translocation

1 reference

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7 January 2021

10.1016/S0960-8966(03)00043-9

Identifiers

DOI

1 reference

13 May 2018

PubMed ID

12921795

1 reference

13 May 2018