Congential fibrosis of the extraocular muscles type I (CFEOM1) on the Arabian Peninsula (Q46685249)

24 December 2017

title

Congential fibrosis of the extraocular muscles type I (CFEOM1) on the Arabian Peninsula (English)

1 reference

24 December 2017

author name string

Arif O Khan

series ordinal

1

1 reference

24 December 2017

Dania S Khalil

series ordinal

2

1 reference

24 December 2017

Nada A Al-Tassan

series ordinal

3

1 reference

24 December 2017

publication date

1 March 2008

1 reference

24 December 2017

published in

Ophthalmic Genetics

1 reference

24 December 2017

volume

29

1 reference

24 December 2017

issue

1

1 reference

24 December 2017

page(s)

25-28

1 reference

24 December 2017

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

cites work

1 reference

https://api.crossref.org/works/10.1080%2F13816810701850058

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701850058

Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701850058

Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701850058

Mutation analysis of the KIF21A gene in an Indian family with CFEOM1: implication of CpG methylation for most frequent mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701850058

Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701850058

Classification and surgical management of patients with familial and sporadic forms of congenital fibrosis of the extraocular muscles.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701850058

Recurrent mutation of the KIF21A gene in Japanese patients with congenital fibrosis of the extraocular muscles

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701850058

A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701850058

Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701850058

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701850058

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701850058

Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701850058

Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3).

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13816810701850058

10.1080/13816810701850058

21 January 2018

Identifiers

DOI

1 reference

24 December 2017

PubMed ID

18363169

1 reference

24 December 2017