| 1 |
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 |
| 2 |
Clinical heterogeneity associated with TUBB3 gene mutation in a Turkish family with congenital fibrosis of the extraocular muscles. ( 27428177
)
|
Ceylan A.C....Cilingir O.
|
2016 |
| 3 |
KIF21A mutation in two Chinese families with congenital fibrosis of the extraocular muscles type 1 and 3. ( 27513105
)
|
Chen J....Lin Y.
|
2016 |
| 4 |
Brain Abnormalities in Congenital Fibrosis of the Extraocular Muscles Type 1: A Multimodal MRI Imaging Study. ( 26186732
)
|
Miao W....Jiao Y.
|
2015 |
| 5 |
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 |
| 6 |
Retinal Dysfunction in Patients with Congenital Fibrosis of the Extraocular Muscles Type 2. ( 24940936
)
|
Khan A.O....Bosley T.
|
2014 |
| 7 |
Strabismus surgery in congenital fibrosis of the extraocular muscles: a paradigm. ( 25347047
)
|
Sener E.C....SanaAs A.S.
|
2014 |
| 8 |
A novel de novo KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and MAPbius syndrome. ( 24715754
)
|
Ali Z....Mootha V.V.
|
2014 |
| 9 |
Sclerosing cavernous hemangioma of the cavernous sinus mimicking congenital fibrosis of the extraocular muscles. ( 24751811
)
|
Gesite-de Leon B....Demer J.L.
|
2014 |
| 10 |
Cerebellar atrophy in congenital fibrosis of the extraocular muscles type 1. ( 22699964
)
|
Di Fabio R....Casali C.
|
2013 |
| 11 |
Congenital fibrosis of the extraocular muscles: magnetic resonance imaging findings and surgical treatment. ( 23978146
)
|
Merino P....Ruiz Y.
|
2013 |
| 12 |
Dissociated vertical deviation in congenital fibrosis of the extraocular muscles. ( 22415008
)
|
Choi S.R....Kim U.S.
|
2013 |
| 13 |
Spatiotemporal expression pattern of KIF21A during normal embryonic development and in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). ( 22465342
)
|
Desai J....Engle E.C.
|
2012 |
| 14 |
Surgically mismanaged ptosis in a patient with congenital fibrosis of the extraocular muscles type I. ( 23248547
)
|
Tawfik H.A....Rashad M.A.
|
2012 |
| 15 |
Lack of KIF21A mutations in congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families. ( 21264235
)
|
Khan A.O....Al Tassan N.
|
2011 |
| 16 |
Unilateral congenital fibrosis of the extraocular muscles with lid retraction: surgical treatment with a silicon plate on the orbital floor. ( 21314337
)
|
Murillo-Correa C.E....Nava-CastaA+eda A.
|
2011 |
| 17 |
The optic nerve head in congenital fibrosis of the extraocular muscles. ( 21449832
)
|
Khan A.O....Al-Tassan N.A.
|
2011 |
| 18 |
[Mutation analysis of KIF21A gene in a Chinese family with congenital fibrosis of the extraocular muscles type I]. ( 21983718
)
|
Yan Y.S....Jiao H.Y.
|
2011 |
| 19 |
Congenital fibrosis of the extraocular muscles. ( 21120060
)
|
Al-Mujaini A.
|
2010 |
| 20 |
KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM). ( 21042561
)
|
Yang X....Zhang K.
|
2010 |
| 21 |
Germline Mosaicism for KIF21A Mutation (p.R954L) Mimicking Recessive Inheritance for Congenital Fibrosis of the Extraocular Muscles. ( 19896199
)
|
Khan A.O....Al Tassan N.A.
|
2010 |
| 22 |
Congenital fibrosis of the extraocular muscles. ( 21217899
)
|
Cooymans P....Ganesh A.
|
2010 |
| 23 |
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 |
| 24 |
Congenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomata. ( 19373680
)
|
Flaherty M.P....Engle E.C.
|
2009 |
| 25 |
Novel and recurrent KIF21A mutations in congenital fibrosis of the extraocular muscles type 1 and 3. ( 18332320
)
|
Lu S....Larsson C.
|
2008 |
| 26 |
Congenital fibrosis of the extraocular muscles. ( 18214786
)
|
Heidary G....Hunter D.G.
|
2008 |
| 27 |
Congenital fibrosis of the extraocular muscles (CFEOM) syndrome associated with progressive cerebellar ataxia. ( 17551929
)
|
Yoshida K....Ikeda S.
|
2007 |
| 28 |
Mutation p.Arg954Trp of KIF21A causes congenital fibrosis of the extraocular muscles in a Chinese family. ( 16939002
)
|
Zhang X.Q....Liu M.G.
|
2006 |
| 29 |
A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon. ( 16157808
)
|
Yamada K....Engle E.C.
|
2005 |
| 30 |
Anterior uveitis and congenital fibrosis of the extraocular muscles in a patient with Noonan syndrome. ( 16388177
)
|
Elgohary M.A....Ahmad N.
|
2005 |
| 31 |
Recurrent mutation of the KIF21A gene in Japanese patients with congenital fibrosis of the extraocular muscles. ( 16365788
)
|
Shimizu S....Maruo T.
|
2005 |
| 32 |
Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients. ( 15621876
)
|
Tiab L....Schorderet D.
|
2004 |
| 33 |
Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). ( 15223798
)
|
Yamada K....Engle E.C.
|
2004 |
| 34 |
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). ( 14595441
)
|
Yamada K....Engle E.C.
|
2003 |
| 35 |
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 E.C....de Berardinis T.
|
2002 |
| 36 |
Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. ( 11600883
)
|
Nakano M....Engle E.C.
|
2001 |
| 37 |
Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13. ( 9683611
)
|
Wang S.M....Engle E.C.
|
1998 |
| 38 |
Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. ( 8075644
)
|
Engle E.C....Beggs A.H.
|
1994 |
| 39 |
Congenital Fibrosis of the Extraocular Muscles ( 20301522
)
|
Pagon R.A....Stephens K.
|
1993 |
