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Literature DB >> 16528738

HOXA1 mutations are not a common cause of Duane anomaly.

Max A Tischfield, Wai-Man Chan, Jann-Frederik Grunert, Caroline Andrews, Elizabeth C Engle.

Abstract

Entities: Disease Gene

Mesh：

Substances：

Year: 2006 PMID： 16528738 PMCID： PMC2553396 DOI： 10.1002/ajmg.a.31167

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

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17 in total

1. Möbius syndrome redefined: a syndrome of rhombencephalic maldevelopment.

Authors: Harriëtte T F M Verzijl; Bert van der Zwaag; Johannes R M Cruysberg; George W Padberg
Journal: Neurology Date: 2003-08-12 Impact factor: 9.910

2. Inheritance of Duane's syndrome.

Authors: T H Kirkham
Journal: Br J Ophthalmol Date: 1970-05 Impact factor: 4.638

3. 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

4. Congenital anomalies in Duane's retraction syndrome.

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

5. Duane's retraction syndrome and associated congenital malformations.

Authors: H E Cross; D D Pfaffenbach
Journal: Am J Ophthalmol Date: 1972-03 Impact factor: 5.258

Review 6. Applications of molecular genetics to the understanding of congenital ocular motility disorders.

Authors: Elizabeth C Engle
Journal: Ann N Y Acad Sci Date: 2002-04 Impact factor: 5.691

7. Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis.

Authors: Joanna C Jen; Wai-Man Chan; Thomas M Bosley; Jijun Wan; Janai R Carr; Udo Rüb; David Shattuck; Georges Salamon; Lili C Kudo; Jing Ou; Doris D M Lin; Mustafa A M Salih; Tülay Kansu; Hesham Al Dhalaan; Zayed Al Zayed; David B MacDonald; Bent Stigsby; Andreas Plaitakis; Emmanuel K Dretakis; Irene Gottlob; Christina Pieh; Elias I Traboulsi; Qing Wang; Lejin Wang; Caroline Andrews; Koki Yamada; Joseph L Demer; Shaheen Karim; Jeffry R Alger; Daniel H Geschwind; Thomas Deller; Nancy L Sicotte; Stanley F Nelson; Robert W Baloh; Elizabeth C Engle
Journal: Science Date: 2004-04-22 Impact factor: 47.728

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. Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.

Authors: Raidah Al-Baradie; Koki Yamada; Cynthia St Hilaire; Wai-Man Chan; Caroline Andrews; Nathalie McIntosh; Motoi Nakano; E Jean Martonyi; William R Raymond; Sada Okumura; Michael M Okihiro; Elizabeth C Engle
Journal: Am J Hum Genet Date: 2002-10-22 Impact factor: 11.025

10. 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

7 in total

1. Two pedigrees segregating Duane's retraction syndrome as a dominant trait map to the DURS2 genetic locus.

Authors: Elizabeth C Engle; Caroline Andrews; Krystal Law; Joseph L Demer
Journal: Invest Ophthalmol Vis Sci Date: 2007-01 Impact factor: 4.799

Review 2. 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

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