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KIF21A gene
Known as:
KINESIN FAMILY MEMBER 21A
, FLJ20052
, KIF21A
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National Institutes of Health
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2016
Review
2016
Chromosome 6 microdeletion in a patient with syndromic congenital cranial dysinnervation disorder
K. Abu-Amero
,
A. Kondkar
,
A. Hellani
,
T. Bosley
,
Arif O. Khan
Neurosciences
2016
Corpus ID: 2265774
T congenital cranial dysinnervation disorders (CCDDs) encompass most congenital, static restrictions of ocular motility, often…
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2015
2015
Partial Duplication of Chromosome 19 Associated with Syndromic Duane Retraction Syndrome
K. Abu-Amero
,
A. Kondkar
,
+5 authors
T. Bosley
Ophthalmic Genetics
2015
Corpus ID: 20484547
Abstract Background: To evaluate possible monogenic and chromosomal anomalies in a patient with unilateral Duane retraction…
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2014
2014
Maternal germline mosaicism of kinesin family member 21A (KIF21A) mutation causes complex phenotypes in a Chinese family with congenital fibrosis of the extraocular muscles
Gang Liu
,
Xue Chen
,
+8 authors
Chen Zhao
Molecular Vision
2014
Corpus ID: 7388613
Purpose To identify the causative mutation with its possible origin in a Chinese family with congenital fibrosis of extraocular…
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2014
2014
Sequencing of Genes Associated with syndromic DRS ( HOXA 1 , SALL
K. Abu-Amero
,
T. Bosley
,
A. Kondkar
,
D. Oystreck
,
Arif O. Khan
2014
Corpus ID: 207788598
Purpose: Some individuals are born with congenital limitation of ocular motility, often associated with ptosis and retraction of…
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2013
2013
KIF21A mRNA expression in patients with Down syndrome
M. Salemi
,
C. Barone
,
+7 authors
P. Bosco
Neurological Sciences
2013
Corpus ID: 28231504
Down syndrome (DS) is a chromosomal disorder caused by chromosome 21 trisomy and is the most frequent genetic cause of…
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2012
2012
[R954 mutations in KIF21A gene in Chinese patients with congenital fibrosis of extraocular muscles].
Ning-dong Li
,
Jun Zhao
,
+5 authors
K. Zhao
[Zhonghua yan ke za zhi] Chinese journal of…
2012
Corpus ID: 37302520
OBJECTIVE Screening KIF21A gene mutation in 9 families with congenital fibrosis of extraocular muscles and 7 sporadic cases…
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2012
2012
PLXNC1 and RDH13 associated with bilateral convergent strabismus with exophthalmus in German Brown cattle
S. Fink
,
S. Mömke
,
O. Distl
Molecular Vision
2012
Corpus ID: 13396501
Purpose We performed an association study for bilateral convergent strabismus with exophthalmus (BCSE) in German Brown cattle…
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2010
2010
Germline Mosaicism for KIF21A Mutation (p.R954L) Mimicking Recessive Inheritance for Congenital Fibrosis of the Extraocular Muscles.
Arif O. Khan
,
Dania S. Khalil
,
Latifa J Al Sharif
,
Faisal Alghadhfan
,
Nada Al Tassan
Ophthalmology (Rochester, Minn.)
2010
Corpus ID: 46544833
Review
2009
Review
2009
Mutations in KIF21A and PHOX2A are absent in 16 patients with congenital vertical incomitant strabismus
Arif O. Khan
,
Dania S. Khalil
,
Latifa Al-Sharif
,
Nada A Al-Tassan
Ophthalmic Genetics
2009
Corpus ID: 207525659
Genetic studies of families with rare forms of familial congenital incomitant strabismus (eg, congenital fibrosis of the…
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2006
2006
Mutation p.Arg954Trp of KIF21A causes congenital fibrosis of the extraocular muscles in a Chinese family.
Xian-qin Zhang
,
Jian-hong Peng
,
+6 authors
Mugen Liu
Yi chuan xue bao = Acta genetica Sinica
2006
Corpus ID: 23408604
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