| 1 |
Comparison of Clinical and Radiological Findings between Congenital Orbital Fibrosis and Congenital Fibrosis of the Extraocular Muscles. ( 30081646
)
|
Kim N...Hwang JM
|
2018 |
| 2 |
Clinical heterogeneity associated with TUBB3 gene mutation in a Turkish family with congenital fibrosis of the extraocular muscles. ( 27428177
)
|
Ceylan AC...Cilingir O
|
2017 |
| 3 |
Clinical characteristics of a KIF21A mutation in a Chinese family with congenital fibrosis of the extraocular muscles type 1. ( 28930843
)
|
Chen H...Zhang Z
|
2017 |
| 4 |
Retinal Dysfunction in Patients with Congenital Fibrosis of the Extraocular Muscles Type 2. ( 24940936
)
|
Khan AO...Bosley T
|
2016 |
| 5 |
KIF21A mutation in two Chinese families with congenital fibrosis of the extraocular muscles type 1 and 3. ( 27513105
)
|
Chen J...Lin Y
|
2016 |
| 6 |
Brain Abnormalities in Congenital Fibrosis of the Extraocular Muscles Type 1: A Multimodal MRI Imaging Study. ( 26186732
)
|
Miao W...Jiao Y
|
2015 |
| 7 |
Sclerosing cavernous hemangioma of the cavernous sinus mimicking congenital fibrosis of the extraocular muscles. ( 24751811
)
|
Gesite-de Leon B...Demer JL
|
2014 |
| 8 |
Strabismus surgery in congenital fibrosis of the extraocular muscles: a paradigm. ( 25347047
)
|
Sener EC...Sana? AS
|
2014 |
| 9 |
A novel de novo KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Möbius syndrome. ( 24715754
)
|
Ali Z...Mootha VV
|
2014 |
| 10 |
Maternal germline mosaicism of kinesin family member 21A (KIF21A) mutation causes complex phenotypes in a Chinese family with congenital fibrosis of the extraocular muscles. ( 24426772
)
|
Liu G...Zhao C
|
2014 |
| 11 |
Dissociated vertical deviation in congenital fibrosis of the extraocular muscles. ( 22415008
)
|
Choi SR...Kim US
|
2013 |
| 12 |
Cerebellar atrophy in congenital fibrosis of the extraocular muscles type 1. ( 22699964
)
|
Di Fabio R...Casali C
|
2013 |
| 13 |
Congenital fibrosis of the extraocular muscles: magnetic resonance imaging findings and surgical treatment. ( 23978146
)
|
Merino P...Ruiz Y
|
2013 |
| 14 |
Surgically mismanaged ptosis in a patient with congenital fibrosis of the extraocular muscles type I. ( 23248547
)
|
Tawfik HA...Rashad MA
|
2012 |
| 15 |
Spatiotemporal expression pattern of KIF21A during normal embryonic development and in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). ( 22465342
)
|
Desai J...Engle EC
|
2012 |
| 16 |
Lack of KIF21A mutations in congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families. ( 21264235
)
|
Khan AO...Al Tassan N
|
2011 |
| 17 |
Unilateral congenital fibrosis of the extraocular muscles with lid retraction: surgical treatment with a silicon plate on the orbital floor. ( 21314337
)
|
Murillo-Correa CE...Nava-Casta?eda A
|
2011 |
| 18 |
The optic nerve head in congenital fibrosis of the extraocular muscles. ( 21449832
)
|
Khan AO...Al-Tassan NA
|
2011 |
| 19 |
KIF21A novel deletion and recurrent mutation in patients with congenital fibrosis of the extraocular muscles-1. ( 21805025
)
|
Wang P...Zhang Q
|
2011 |
| 20 |
[Mutation analysis of KIF21A gene in a Chinese family with congenital fibrosis of the extraocular muscles type I]. ( 21983718
)
|
Yan YS...Jiao HY
|
2011 |
| 21 |
Germline Mosaicism for KIF21A Mutation (p.R954L) Mimicking Recessive Inheritance for Congenital Fibrosis of the Extraocular Muscles. ( 19896199
)
|
Khan AO...Al Tassan NA
|
2010 |
| 22 |
KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM). ( 21042561
)
|
Yang X...Zhang K
|
2010 |
| 23 |
Congenital fibrosis of the extraocular muscles. ( 21120060
)
|
Al-Mujaini A
|
2010 |
| 24 |
Congenital fibrosis of the extraocular muscles. ( 21217899
)
|
Cooymans P...Ganesh A
|
2010 |
| 25 |
Congenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomata. ( 19373680
)
|
Flaherty MP...Engle EC
|
2009 |
| 26 |
Unexpected clinical involvement of hereditary total leuconychia with congenital fibrosis of the extraocular muscles in three generations. ( 19489868
)
|
Karadeniz N...Taner P
|
2009 |
| 27 |
A major mutation of KIF21A associated with congenital fibrosis of the extraocular muscles type 1 (CFEOM1) enhances translocation of Kank1 to the membrane. ( 19559006
)
|
Kakinuma N...Kiyama R
|
2009 |
| 28 |
Congenital fibrosis of the extraocular muscles. ( 18214786
)
|
Heidary G...Hunter DG
|
2008 |
| 29 |
Novel and recurrent KIF21A mutations in congenital fibrosis of the extraocular muscles type 1 and 3. ( 18332320
)
|
Lu S...Larsson C
|
2008 |
| 30 |
Abnormalities of the oculomotor nerve in congenital fibrosis of the extraocular muscles and congenital oculomotor palsy. ( 17389489
)
|
Lim KH...Demer JL
|
2007 |
| 31 |
Congenital fibrosis of the extraocular muscles (CFEOM) syndrome associated with progressive cerebellar ataxia. ( 17551929
)
|
Yoshida K...Ikeda S
|
2007 |
| 32 |
Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A. ( 16815872
)
|
Bosley TM...Engle EC
|
2006 |
| 33 |
Mutation p.Arg954Trp of KIF21A causes congenital fibrosis of the extraocular muscles in a Chinese family. ( 16939002
)
|
Zhang XQ...Liu MG
|
2006 |
| 34 |
Anterior uveitis and congenital fibrosis of the extraocular muscles in a patient with Noonan syndrome. ( 16388177
)
|
Elgohary MA...Ahmad N
|
2005 |
| 35 |
A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon. ( 16157808
)
|
Yamada K...Engle EC
|
2005 |
| 36 |
Recurrent mutation of the KIF21A gene in Japanese patients with congenital fibrosis of the extraocular muscles. ( 16365788
)
|
Shimizu S...Maruo T
|
2005 |
| 37 |
Classification and surgical management of patients with familial and sporadic forms of congenital fibrosis of the extraocular muscles. ( 15121385
)
|
Yazdani A...Traboulsi EI
|
2004 |
| 38 |
Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). ( 15223798
)
|
Yamada K...Engle EC
|
2004 |
| 39 |
Congenital fibrosis of the extraocular muscles with brain-stem abnormalities: a novel finding. ( 15491041
)
|
Harissi-Dagher M...Aroichane M
|
2004 |
| 40 |
Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients. ( 15621876
)
|
Tiab L...Schorderet D
|
2004 |
| 41 |
A Japanese family with FEOM1-linked congenital fibrosis of the extraocular muscles type 1 associated with spinal canal stenosis and refinement of the FEOM1 critical region. ( 12899874
)
|
Uyama E...Engle EC
|
2003 |
| 42 |
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). ( 14595441
)
|
Yamada K...Engle EC
|
2003 |
| 43 |
CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX. ( 11882252
)
|
Engle EC...de Berardinis T
|
2002 |
| 44 |
Clinical phenotype and linkage analysis of the congenital fibrosis of the extraocular muscles in an Indian family. ( 12181522
)
|
Venkatesh CP...Kumar A
|
2002 |
| 45 |
Congenital fibrosis of the extraocular muscles associated with cortical dysplasia and maldevelopment of the basal ganglia. ( 11425694
)
|
Flaherty MP...Engle EC
|
2001 |
| 46 |
Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. ( 11600883
)
|
Nakano M...Engle EC
|
2001 |
| 47 |
Evidence of genetic heterogeneity in autosomal recessive congenital fibrosis of the extraocular muscles. ( 10844060
)
|
Traboulsi EI...Engle EC
|
2000 |
| 48 |
Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13. ( 9683611
)
|
Wang SM...Engle EC
|
1998 |
| 49 |
Phenotypic heterogeneity may occur in congenital fibrosis of the extraocular muscles. ( 9797671
)
|
Reck AC...Hatchwell E
|
1998 |
| 50 |
Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles. ( 9066352
)
|
Engle EC...Beggs AH
|
1997 |
Rare neurological diseases
