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Literature DB >> 12921795

110th ENMC International Workshop: the congenital cranial dysinnervation disorders (CCDDs). Naarden, The Netherlands, 25-27 October, 2002.

N J Gutowski¹, T M Bosley, E C Engle.

Abstract

Entities: Chemical Disease

Mesh：

Year: 2003 PMID： 12921795 DOI： 10.1016/s0960-8966(03)00043-9

Source DB: PubMed Journal: Neuromuscul Disord ISSN： 0960-8966 Impact factor: 4.296

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45 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

Review 2. [Congenital fibrosis of extraocular muscles (CFEOM) and other phenotypes of congenital cranial dysinnervation syndromes (CCDD)].

Authors: Frank Hanisch; Viktoria Bau; Stephan Zierz
Journal: Nervenarzt Date: 2005-04 Impact factor: 1.214

Review 3. The genetics of strabismus.

Authors: M Michaelides; A T Moore
Journal: J Med Genet Date: 2004-09 Impact factor: 6.318

4. Coexistence of Möbius syndrome and Duane's retraction syndrome.

Authors: Chaerin Park; Jae Hyoung Kim; Jeong-Min Hwang
Journal: Graefes Arch Clin Exp Ophthalmol Date: 2011-09-21 Impact factor: 3.117

5. HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice.

Authors: Bryn D Webb; Sherin Shaaban; Harald Gaspar; Luis F Cunha; Christian R Schubert; Ke Hao; Caroline D Robson; Wai-Man Chan; Caroline Andrews; Sarah MacKinnon; Darren T Oystreck; David G Hunter; Anthony J Iacovelli; Xiaoqian Ye; Anne Camminady; Elizabeth C Engle; Ethylin Wang Jabs
Journal: Am J Hum Genet Date: 2012-07-05 Impact factor: 11.025

10. Congenital abnormalities of cranial nerve development: overview, molecular mechanisms, and further evidence of heterogeneity and complexity of syndromes with congenital limitation of eye movements.

Authors: Elias I Traboulsi
Journal: Trans Am Ophthalmol Soc Date: 2004

110th ENMC International Workshop: the congenital cranial dysinnervation disorders (CCDDs). Naarden, The Netherlands, 25-27 October, 2002.

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

Review 2. [Congenital fibrosis of extraocular muscles (CFEOM) and other phenotypes of congenital cranial dysinnervation syndromes (CCDD)].

Review 3. The genetics of strabismus.

4. Coexistence of Möbius syndrome and Duane's retraction syndrome.

5. HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice.

6. Magnetic resonance imaging demonstrates neuropathology in congenital inferior division oculomotor palsy.

7. The clinical spectrum of homozygous HOXA1 mutations.

Review 8. Recent progress in understanding congenital cranial dysinnervation disorders.

9. Characterization of ocular motor deficits in congenital facial weakness: Moebius and related syndromes.

10. Congenital abnormalities of cranial nerve development: overview, molecular mechanisms, and further evidence of heterogeneity and complexity of syndromes with congenital limitation of eye movements.