Literature DB >> 20034095

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

Noriko Miyake1, Caroline Andrews, Wen Fan, Wei He, Wai-Man Chan, Elizabeth C Engle.   

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Year:  2010        PMID： 20034095      PMCID： PMC2801889          DOI： 10.1002/ajmg.a.33168

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  18 in total

1.  No evidence of SALL4-mutations in isolated sporadic duane retraction "syndrome" (DURS).

Authors:  B K Wabbels; B Lorenz; J Kohlhase
Journal:  Am J Med Genet A       Date:  2004-12-01       Impact factor: 2.802

Review 2.  Thalidomide embryopathy: a model for the study of congenital incomitant horizontal strabismus.

Authors:  M T Miller
Journal:  Trans Am Ophthalmol Soc       Date:  1991

3.  Electrophysiology of the retraction syndromes.

Authors:  A Huber
Journal:  Br J Ophthalmol       Date:  1974-03       Impact factor: 4.638

Review 4.  Duane's retraction syndrome.

Authors:  P A DeRespinis; A R Caputo; R S Wagner; S Guo
Journal:  Surv Ophthalmol       Date:  1993 Nov-Dec       Impact factor: 6.048

5.  Bilateral Duane's retraction syndrome. A clinical-pathologic case report.

Authors:  M G Hotchkiss; N R Miller; A W Clark; W R Green
Journal:  Arch Ophthalmol       Date:  1980-05

6.  Congenital anomalies in Duane's retraction syndrome.

Authors:  D D Pfaffenbach; H E Cross; T P Kearns
Journal:  Arch Ophthalmol       Date:  1972-12

7.  Association of familial Duane anomaly and urogenital abnormalities with a bisatellited marker derived from chromosome 22.

Authors:  P Cullen; C S Rodgers; D F Callen; V M Connolly; H Eyre; P Fells; H Gordon; R M Winter; R V Thakker
Journal:  Am J Med Genet       Date:  1993-11-01

8.  Unilateral Duane's retraction syndrome (Type 1).

Authors:  N R Miller; S M Kiel; W R Green; A W Clark
Journal:  Arch Ophthalmol       Date:  1982-09

9.  Okihiro syndrome is caused by SALL4 mutations.

Authors:  Jürgen Kohlhase; Marielle Heinrich; Lucia Schubert; Manuela Liebers; Andreas Kispert; Franco Laccone; Peter Turnpenny; Robin M Winter; William Reardon
Journal:  Hum Mol Genet       Date:  2002-11-01       Impact factor: 6.150

10.  A peptidase gene in chromosome 8q is disrupted by a balanced translocation in a duane syndrome patient.

Authors:  Antonio Pizzuti; Giuseppe Calabrese; Maura Bozzali; Louise Telvi; Elisena Morizio; Valentina Guida; Valentina Gatta; Liborio Stuppia; Alexandra Ion; Giandomenico Palka; Bruno Dallapiccola
Journal:  Invest Ophthalmol Vis Sci       Date:  2002-12       Impact factor: 4.799
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  9 in total

Review 1.  The genetic basis of incomitant strabismus: consolidation of the current knowledge of the genetic foundations of disease.

Authors:  Carolyn P Graeber; David G Hunter; Elizabeth C Engle
Journal:  Semin Ophthalmol       Date:  2013 Sep-Nov       Impact factor: 1.975

Review 2.  Recent progress in understanding congenital cranial dysinnervation disorders.

Authors:  Darren T Oystreck; Elizabeth C Engle; Thomas M Bosley
Journal:  J Neuroophthalmol       Date:  2011-03       Impact factor: 3.042

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

Authors:  Jeong-Min Hwang; Moon-Woo Seong; Jae Hyoung Kim; Sung Sup Park
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2014-10-22       Impact factor: 3.117

4.  Two novel CHN1 mutations in 2 families with Duane retraction syndrome.

Authors:  Wai-Man Chan; Noriko Miyake; Lily Zhu-Tam; Caroline Andrews; Elizabeth C Engle
Journal:  Arch Ophthalmol       Date:  2011-05

Review 5.  Congenital cranial dysinnervation disorders.

Authors:  Anupam Singh; P K Pandey; Ajai Agrawal; Sanjeev Kumar Mittal; Kartik Maheshbhai Rana; Chirag Bahuguna
Journal:  Int Ophthalmol       Date:  2016-11-11       Impact factor: 2.031

Review 6.  Ocular congenital cranial dysinnervation disorders (CCDDs): insights into axon growth and guidance.

Authors:  Mary C Whitman; Elizabeth C Engle
Journal:  Hum Mol Genet       Date:  2017-08-01       Impact factor: 6.150

7.  Potential linkage of different phenotypic forms of childhood strabismus to a recessive susceptibility locus (16p13.12-p12.3).

Authors:  Arif O Khan; Jameela Shinwari; Nada Abu Dhaim; Dania Khalil; Latifa Al Sharif; Nada Al Tassan
Journal:  Mol Vis       Date:  2011-04-19       Impact factor: 2.367

8.  Infantile esotropia could be oligogenic and allelic with Duane retraction syndrome.

Authors:  Arif O Khan; Jameela Shinwari; Latifa Al Sharif; Dania Khalil; Saeed Al-Gehedan; Nada A Al Tassan
Journal:  Mol Vis       Date:  2011-07-20       Impact factor: 2.367

Review 9.  Strabismus genetics across a spectrum of eye misalignment disorders.

Authors:  X C Ye; V Pegado; M S Patel; W W Wasserman
Journal:  Clin Genet       Date:  2014-03-26       Impact factor: 4.438
  9 in total

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