(Q24804763)

English

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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scholarly article

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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 (English)

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congenital disorder

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congenital fibrosis of the extraocular muscles

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Teresa De Berardinis

object named as

Teresa de Berardinis

17

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object named as

Adriano Magli

16

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author name string

Elizabeth C Engle

1

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Nathalie McIntosh

2

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Koki Yamada

3

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Bjorn A Lee

4

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Roger Johnson

5

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Michael O'Keefe

6

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Robert Letson

7

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Arnold London

8

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Evan Ballard

9

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Mark Ruttum

10

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Naomichi Matsumoto

11

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Nakamichi Saito

12

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Mary Louise Z Collins

13

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Lisa Morris

14

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Monte Del Monte

15

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language of work or name

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publication date

2002

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3

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1

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3

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=100320

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=100320

7 April 2017

Expression and interactions of the two closely related homeobox genes Phox2a and Phox2b during neurogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=100320

7 April 2017

Faster sequential genetic linkage computations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=100320

7 April 2017

Congenital, static familial ophthalmoplegia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=100320

28 September 2017

Development of noradrenergic neurons in the zebrafish hindbrain requires BMP, FGF8, and the homeodomain protein soulless/Phox2a

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=100320

28 September 2017

Locus heterogeneity in autosomal dominant congenital external ophthalmoplegia (CFEOM)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=100320

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=100320

28 September 2017

Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=100320

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=100320

28 September 2017

Congenital fibrosis of the extraocular muscles associated with cortical dysplasia and maldevelopment of the basal ganglia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=100320

30 May 2018

CFEOM3: a new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=100320

28 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=100320

28 November 2018

Unilateral Duane's retraction syndrome (Type 1).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=100320

28 November 2018

Congenital fibrosis of the extraocular muscles; a report of six cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/11882252

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/11882252

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A familial musculo-fascial anomaly

1 reference

https://pubmed.ncbi.nlm.nih.gov/11882252

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital fibrosis of the extraocular muscles

1 reference

https://pubmed.ncbi.nlm.nih.gov/11882252

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital familial external ophthalmoplegia with co-contraction

1 reference

https://pubmed.ncbi.nlm.nih.gov/11882252

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary congenital external ophthalmoplegia

1 reference

https://pubmed.ncbi.nlm.nih.gov/11882252

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1471-2156-3-3

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Dimensions Publication ID

1 reference

https://scigraph.springernature.com/pub.10.1186/1471-2156-3-3

9 September 2019

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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