1 |
A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter.
38
4
8
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Tukel T...Wollnik B
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15863670
|
2005 |
2 |
KIF21A variant R954W in familial or sporadic cases of CFEOM1.
9
38
4
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Rudolph G...Meindl A
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19551685
|
2009 |
3 |
A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon.
9
38
4
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Yamada K...Engle EC
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16157808
|
2005 |
4 |
KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3.
9
38
4
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Lin LK...Hwu WL
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15827546
|
2005 |
5 |
Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients.
9
38
4
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Tiab L...Schorderet D
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15621876
|
2004 |
6 |
A novel PHOX2A/ARIX mutation in an Iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2).
9
38
4
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Yazdani A...Traboulsi EI
|
14597037
|
2003 |
7 |
Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development.
38
4
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Whitman MC...Engle EC
|
26639658
|
2016 |
8 |
A rare case of congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation with Marcus Gunn jaw-winking phenomenon.
38
4
|
Kacar Bayram A...Caglayan AO
|
26190014
|
2015 |
9 |
Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome.
38
4
|
Balasubramanian R...Engle EC
|
25559402
|
2015 |
10 |
Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome.
38
4
|
MacKinnon S...Engle EC
|
24612975
|
2014 |
11 |
Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling.
38
4
|
Cheng L...Engle EC
|
24656932
|
2014 |
12 |
Maternal germline mosaicism of kinesin family member 21A (KIF21A) mutation causes complex phenotypes in a Chinese family with congenital fibrosis of the extraocular muscles.
38
4
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Liu G...Zhao C
|
24426772
|
2014 |
13 |
A novel de novo KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Möbius syndrome.
38
4
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Ali Z...Mootha VV
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24715754
|
2014 |
14 |
CFEOM1-associated kinesin KIF21A is a cortical microtubule growth inhibitor.
38
4
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van der Vaart B...Akhmanova A
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24120883
|
2013 |
15 |
Inherited KIF21A and PAX6 gene mutations in a boy with congenital fibrosis of extraocular muscles and aniridia.
38
4
|
Ying M...Li N
|
23799907
|
2013 |
16 |
A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.
38
4
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Chew S...Engle EC
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23378218
|
2013 |
17 |
An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.
38
4
|
Cederquist GY...Engle EC
|
23001566
|
2012 |
18 |
Spatiotemporal expression pattern of KIF21A during normal embryonic development and in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).
38
4
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Desai J...Engle EC
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22465342
|
2012 |
19 |
KIF21A novel deletion and recurrent mutation in patients with congenital fibrosis of the extraocular muscles-1.
38
4
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Wang P...Zhang Q
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21805025
|
2011 |
20 |
Lack of KIF21A mutations in congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families.
38
4
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Khan AO...Al Tassan N
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21264235
|
2011 |
21 |
KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM).
38
4
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Yang X...Zhang K
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21042561
|
2010 |
22 |
Evidence of an asymmetrical endophenotype in congenital fibrosis of extraocular muscles type 3 resulting from TUBB3 mutations.
38
4
|
Demer JL...Engle EC
|
20393110
|
2010 |
23 |
Germline Mosaicism for KIF21A Mutation (p.R954L) Mimicking Recessive Inheritance for Congenital Fibrosis of the Extraocular Muscles.
38
4
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Khan AO...Al Tassan NA
|
19896199
|
2010 |
24 |
Unexpected clinical involvement of hereditary total leuconychia with congenital fibrosis of the extraocular muscles in three generations.
38
4
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Karadeniz N...Taner P
|
19489868
|
2009 |
25 |
[Magnetic resonance imaging features in two Chinese family with congenital fibrosis of extraocular muscles].
38
4
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Wu L...Xing YQ
|
20137413
|
2009 |
26 |
Novel and recurrent KIF21A mutations in congenital fibrosis of the extraocular muscles type 1 and 3.
38
4
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Lu S...Larsson C
|
18332320
|
2008 |
27 |
Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1.
38
4
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Chan WM...Engle EC
|
17511870
|
2007 |
28 |
Abnormalities of the oculomotor nerve in congenital fibrosis of the extraocular muscles and congenital oculomotor palsy.
38
4
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Lim KH...Demer JL
|
17389489
|
2007 |
29 |
Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A.
38
4
|
Bosley TM...Engle EC
|
16815872
|
2006 |
30 |
Recurrent mutation of the KIF21A gene in Japanese patients with congenital fibrosis of the extraocular muscles.
38
4
|
Shimizu S...Maruo T
|
16365788
|
2005 |
31 |
Anterior uveitis and congenital fibrosis of the extraocular muscles in a patient with Noonan syndrome.
38
4
|
Elgohary MA...Ahmad N
|
16388177
|
2005 |
32 |
Hypoplastic oculomotor nerve and absent abducens nerve in congenital fibrosis syndrome and synergistic divergence with magnetic resonance imaging.
38
4
|
Kim JH...Hwang JM
|
15808269
|
2005 |
33 |
Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A.
38
4
|
Demer JL...Engle EC
|
15671279
|
2005 |
34 |
Congenital fibrosis of the extraocular muscles with brain-stem abnormalities: a novel finding.
38
4
|
Harissi-Dagher M...Aroichane M
|
15491041
|
2004 |
35 |
Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3).
38
4
|
Yamada K...Engle EC
|
15223798
|
2004 |
36 |
Classification and surgical management of patients with familial and sporadic forms of congenital fibrosis of the extraocular muscles.
38
4
|
Yazdani A...Traboulsi EI
|
15121385
|
2004 |
37 |
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).
38
4
|
Yamada K...Engle EC
|
14595441
|
2003 |
38 |
Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2.
38
4
|
Nakano M...Engle EC
|
11600883
|
2001 |
39 |
Congenital fibrosis of the extraocular muscles associated with cortical dysplasia and maldevelopment of the basal ganglia.
38
4
|
Flaherty MP...Engle EC
|
11425694
|
2001 |
40 |
CFEOM3: a new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3.
38
4
|
Doherty EJ...Engle EC
|
10393037
|
1999 |
41 |
Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13.
38
4
|
Wang SM...Engle EC
|
9683611
|
1998 |
42 |
Phenotypic heterogeneity may occur in congenital fibrosis of the extraocular muscles.
38
4
|
Reck AC...Hatchwell E
|
9797671
|
1998 |
43 |
Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles.
38
4
|
Engle EC...Beggs AH
|
9066352
|
1997 |
44 |
Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.
4
|
Oegema R...Doherty D
|
26130693
|
2015 |
45 |
Prosthetic replacement of the ocular surface ecosystem as treatment for ocular surface disease in patients with a history of Stevens-Johnson syndrome/toxic epidermal necrolysis.
4
|
Papakostas TD...Jacobs DS
|
25282251
|
2015 |
46 |
Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder.
4
|
Shinwari JM...Al Tassan N
|
25500261
|
2015 |
47 |
Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly.
4
|
Fallet-Bianco C...Bahi-Buisson N
|
25059107
|
2014 |
48 |
The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
4
|
Bahi-Buisson N...Chelly J
|
24860126
|
2014 |
49 |
Congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation: first case report from Hong Kong.
4
|
Luk HM...Lam ST
|
23535681
|
2013 |
50 |
Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations.
4
|
Tischfield MA...Engle EC
|
21292473
|
2011 |