Literature DB >> 8326501

Congenital nystagmus cosegregating with a balanced 7;15 translocation.

M A Patton1, S Jeffery, N Lee, C Hogg.   

Abstract

We report a family in which autosomal dominant congenital nystagmus cosegregates with a balanced 7;15 translocation. Ophthalmic investigation showed predominantly horizontal nystagmus with a small rotatory component and no significant loss of visual function. This finding suggests a possible localisation for autosomal dominant congenital nystagmus (McKusick 164100).

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Year:  1993        PMID： 8326501      PMCID： PMC1016433          DOI： 10.1136/jmg.30.6.526

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  9 in total

1.  Congenital hereditary vertical nystagmus.

Authors:  W I FORSYTHE
Journal:  J Neurol Neurosurg Psychiatry       Date:  1955-08       Impact factor: 10.154

2.  [Familial nystagmus and hypoplasia of the macular in reciprocal, balanced translocation 5/16].

Authors:  W Hammerstein; H J Gebauer
Journal:  Fortschr Ophthalmol       Date:  1989

3.  Hereditary congenital nystagmus. An intrafamilial study.

Authors:  L F Dell'Osso; J T Flynn; R B Daroff
Journal:  Arch Ophthalmol       Date:  1974-11

4.  Prevalence and inheritance of congenital nystagmus in a Swedish population.

Authors:  B Forssman; B Ringnér
Journal:  Ann Hum Genet       Date:  1971-10       Impact factor: 1.670

5.  Hereditary studies of congenital nystagmus in a Swedish population.

Authors:  B Forssman
Journal:  Ann Hum Genet       Date:  1971-10       Impact factor: 1.670

6.  Visual system anomalies in human ocular albinos.

Authors:  D Creel; F E O'Donnell; C J Witkop
Journal:  Science       Date:  1978-09-08       Impact factor: 47.728

7.  The differential diagnosis of congenital nystagmus.

Authors:  M Gresty; N Page; H Barratt
Journal:  J Neurol Neurosurg Psychiatry       Date:  1984-09       Impact factor: 10.154

8.  Eye movement recordings in neurological disorders.

Authors:  G K von Noorden; T J Preziosi
Journal:  Arch Ophthalmol       Date:  1966-08

9.  Congenital nystagmus in identical twins: discordant features.

Authors:  S N Spooner; J B Bateman; R D Yee
Journal:  J Pediatr Ophthalmol Strabismus       Date:  1986 May-Jun       Impact factor: 1.402
  9 in total
  6 in total

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

Authors:  Xueshan Xiao; Shiqiang Li; Xiangming Guo; Qingjiong Zhang
Journal:  Hum Genet       Date:  2011-11-08       Impact factor: 4.132

2.  Congenital motor nystagmus linked to Xq26-q27.

Authors:  J B Kerrison; M R Vagefi; M M Barmada; I H Maumenee
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

3.  Further studies on a male monozygotic triplet with schizophrenia: cytogenetical and neurobiological assessments in the patients and their parents.

Authors:  E G Jönsson; C Härnryd; T Johannesson; J Wahlström; J Bergenius; H Bergstedt; D Greitz; H Nyman; E Björck; E Blennow; G C Sedvall
Journal:  Eur Arch Psychiatry Clin Neurosci       Date:  1997       Impact factor: 5.270

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.  The Role of FRMD7 in Idiopathic Infantile Nystagmus.

Authors:  Rachel J Watkins; Mervyn G Thomas; Chris J Talbot; Irene Gottlob; Sue Shackleton
Journal:  J Ophthalmol       Date:  2011-08-29       Impact factor: 1.909
  6 in total

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