Literature DB >> 25331612

Absence of CHN1 in two patients with a bilateral absence of cranial nerves IV and VI.

Jeong-Min Hwang1, Moon-Woo Seong, Jae Hyoung Kim, Sung Sup Park.   

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Year:  2014        PMID： 25331612     DOI： 10.1007/s00417-014-2828-7

Source DB:  PubMed          Journal:  Graefes Arch Clin Exp Ophthalmol        ISSN： 0721-832X            Impact factor:   3.117


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  8 in total

1.  Analysis of the CHN1 gene in patients with various types of congenital ocular motility disorders.

Authors:  Alexander E Volk; Julia Fricke; Judith Strobl; Gerold Kolling; Christian Kubisch; Antje Neugebauer
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2010-06-10       Impact factor: 3.117

2.  Magnetic resonance imaging evidence for widespread orbital dysinnervation in dominant Duane's retraction syndrome linked to the DURS2 locus.

Authors:  Joseph L Demer; Robert A Clark; Key-Hwan Lim; Elizabeth C Engle
Journal:  Invest Ophthalmol Vis Sci       Date:  2007-01       Impact factor: 4.799

3.  Combined bilateral absence of trochlear and abducens nerve.

Authors:  Jae Hyoung Kim; Sa Kang Kim; Jeong-Min Hwang
Journal:  Neurol Sci       Date:  2014-03-28       Impact factor: 3.307

4.  Congenital superior oblique palsy and trochlear nerve absence: a clinical and radiological study.

Authors:  Hee Kyung Yang; Jae Hyoung Kim; Jeong-Min Hwang
Journal:  Ophthalmology       Date:  2011-09-15       Impact factor: 12.079

5.  Expansion of the CHN1 strabismus phenotype.

Authors:  Noriko Miyake; Joseph L Demer; Sherin Shaaban; Caroline Andrews; Wai-Man Chan; Stephen P Christiansen; David G Hunter; Elizabeth C Engle
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-08-11       Impact factor: 4.799

6.  Presence of the abducens nerve according to the type of Duane's retraction syndrome.

Authors:  Jae Hyoung Kim; Jeong-Min Hwang
Journal:  Ophthalmology       Date:  2005-01       Impact factor: 12.079

7.  Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome.

Authors:  Noriko Miyake; John Chilton; Maria Psatha; Long Cheng; Caroline Andrews; Wai-Man Chan; Krystal Law; Moira Crosier; Susan Lindsay; Michelle Cheung; James Allen; Nick J Gutowski; Sian Ellard; Elizabeth Young; Alessandro Iannaccone; Binoy Appukuttan; J Timothy Stout; Stephen Christiansen; Maria Laura Ciccarelli; Alfonso Baldi; Mara Campioni; Juan C Zenteno; Dominic Davenport; Laura E Mariani; Mustafa Sahin; Sarah Guthrie; Elizabeth C Engle
Journal:  Science       Date:  2008-07-24       Impact factor: 47.728

8.  CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome.

Authors:  Noriko Miyake; Caroline Andrews; Wen Fan; Wei He; Wai-Man Chan; Elizabeth C Engle
Journal:  Am J Med Genet A       Date:  2010-01       Impact factor: 2.802
  8 in total
  4 in total

1.  Association of lateral rectus muscle volume and ocular motility with the abducens nerve in Duane's retraction syndrome.

Authors:  Hee Kyung Yang; Jounghan Kim; Dae-Seung Lee; Jeong-Min Hwang
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2020-08-21       Impact factor: 3.117

2.  Postoperative full abduction in a patient of Duane retraction syndrome without an abducens nerve: a case report.

Authors:  Jae Hyoung Kim; Jeong-Min Hwang
Journal:  BMC Ophthalmol       Date:  2017-05-19       Impact factor: 2.209

3.  Congenital sixth nerve palsy with associated anomalies.

Authors:  Nirupama Kasturi
Journal:  Indian J Ophthalmol       Date:  2017-10       Impact factor: 1.848

4.  The Discovery and Validation of Biomarkers for the Diagnosis of Esophageal Squamous Dysplasia and Squamous Cell Carcinoma.

Authors:  George Couch; James E Redman; Lorenz Wernisch; Richard Newton; Shalini Malhotra; Sanford M Dawsey; Pierre Lao-Sirieix; Rebecca C Fitzgerald
Journal:  Cancer Prev Res (Phila)       Date:  2016-04-12
  4 in total

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