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Literature DB >> 9806847

Exclusion of chromosome regions 6p12 and 15q11, but not chromosome region 7p11, in a German family with autosomal dominant congenital nystagmus.

C Klein¹, P Vieregge, W Heide, B Kemper, M Hagedorn-Greiwe, J Hagenah, C Vollmer, X O Breakefield, D Kömpf, L Ozelius.

Abstract

Entities: Disease Gene

Mesh：

Year: 1998 PMID： 9806847 DOI： 10.1006/geno.1998.5535

Source DB: PubMed Journal: Genomics ISSN： 0888-7543 Impact factor: 5.736

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11 in total

1. A novel locus for autosomal dominant congenital motor nystagmus mapped to 1q31-q32.2 between D1S2816 and D1S2692.

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2. CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes.

Authors: Anna Hackett; Patrick S Tarpey; Andrea Licata; James Cox; Annabel Whibley; Jackie Boyle; Carolyn Rogers; John Grigg; Michael Partington; Roger E Stevenson; John Tolmie; John Rw Yates; Gillian Turner; Meredith Wilson; Andrew P Futreal; Mark Corbett; Marie Shaw; Jozef Gecz; F Lucy Raymond; Michael R Stratton; Charles E Schwartz; Fatima E Abidi
Journal: Eur J Hum Genet Date: 2009-12-23 Impact factor: 4.246

3. The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus.

Authors: Mervyn G Thomas; Moira Crosier; Susan Lindsay; Anil Kumar; Shery Thomas; Masasuke Araki; Chris J Talbot; Rebecca J McLean; Mylvaganam Surendran; Katie Taylor; Bart P Leroy; Anthony T Moore; David G Hunter; Richard W Hertle; Patrick Tarpey; Andrea Langmann; Susanne Lindner; Martina Brandner; Irene Gottlob
Journal: Brain Date: 2011-02-08 Impact factor: 13.501

4. Novel mutation c.980_983delATTA compound with c.986C>A mutation of the FRMD7 gene in a Chinese family with X-linked idiopathic congenital nystagmus.

Authors: Feng-wei Song; Bin-bin Chen; Zhao-hui Sun; Li-ping Wu; Su-juan Zhao; Qi Miao; Xia-jing Tang
Journal: J Zhejiang Univ Sci B Date: 2013-06 Impact factor: 3.066

5. Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation.

Authors: Jing Yu Liu; Xiang Ren; Xiufeng Yang; Tangying Guo; Qi Yao; Lin Li; Xiaohua Dai; Mingchang Zhang; Lejin Wang; Mugen Liu; Qing K Wang
Journal: J Hum Genet Date: 2007-05-22 Impact factor: 3.172

6. Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation.

Authors: Shery Thomas; Mervyn G Thomas; Caroline Andrews; Wai-Man Chan; Frank A Proudlock; Rebecca J McLean; Archana Pradeep; Elizabeth C Engle; Irene Gottlob
Journal: Eur J Hum Genet Date: 2013-08-14 Impact factor: 4.246

7. Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus.

Authors: Anja K Mayer; Muhammad Mahajnah; Mervyn G Thomas; Yuval Cohen; Adib Habib; Martin Schulze; Gail D E Maconachie; Basamat AlMoallem; Elfride De Baere; Birgit Lorenz; Elias I Traboulsi; Susanne Kohl; Abdussalam Azem; Peter Bauer; Irene Gottlob; Rajech Sharkia; Bernd Wissinger
Journal: Brain Date: 2019-06-01 Impact factor: 13.501