Literature DB >> 3162283

Norrie disease resulting from a gene deletion: clinical features and DNA studies.

D Donnai1, R C Mountford, A P Read.   

Abstract

We describe a family in which two boys with Norrie disease have a deletion of the DXS7 locus. The deletion does not extend as far distally as the OTC or DXS84 loci. A full clinical description of the patients is given to help establish the range of manifestations of Norrie disease. There is no evidence of any other X linked disease in our patients.

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Year:  1988        PMID： 3162283      PMCID： PMC1015446          DOI： 10.1136/jmg.25.2.73

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


  10 in total

1.  Report of the Committee on the Genetic Constitution of the X and Y Chromosomes.

Authors:  P N Goodfellow; K E Davies; H H Ropers
Journal:  Cytogenet Cell Genet       Date:  1985

2.  Norrie's disease: close linkage with genetic markers from the proximal short arm of the X chromosome.

Authors:  A Gal; C Stolzenberger; T Wienker; P Wieacker; H H Ropers; U Friedrich; L Bleeker-Wagemakers; P Pearson; M Warburg
Journal:  Clin Genet       Date:  1985-03       Impact factor: 4.438

3.  Norrie's disease.

Authors:  A C Hansen
Journal:  Am J Ophthalmol       Date:  1968-08       Impact factor: 5.258

4.  Further linkage data on Norrie disease.

Authors:  J D Kivlin; G E Sanborn; E Wright; L Cannon; J Carey
Journal:  Am J Med Genet       Date:  1987-03

5.  A presumptive new variant of Norrie's disease.

Authors:  C A Moreira-Filho; I Neustein
Journal:  J Med Genet       Date:  1979-04       Impact factor: 6.318

6.  A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.

Authors:  A P Feinberg; B Vogelstein
Journal:  Anal Biochem       Date:  1983-07-01       Impact factor: 3.365

7.  Norrie's disease (hereditary oculo-acoustic-cerebral degeneration). Report of a United States family.

Authors:  P L Townes; P D Roca
Journal:  Am J Ophthalmol       Date:  1973-11       Impact factor: 5.258

8.  Submicroscopic interstitial deletion of the X chromosome explains a complex genetic syndrome dominated by Norrie disease.

Authors:  A Gal; B Wieringa; D F Smeets; L Bleeker-Wagemakers; H H Ropers
Journal:  Cytogenet Cell Genet       Date:  1986

9.  Norrie disease caused by a gene deletion allowing carrier detection and prenatal diagnosis.

Authors:  A de la Chapelle; E M Sankila; M Lindlöf; P Aula; R Norio
Journal:  Clin Genet       Date:  1985-10       Impact factor: 4.438

10.  Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome.

Authors:  U Francke; H D Ochs; B de Martinville; J Giacalone; V Lindgren; C Distèche; R A Pagon; M H Hofker; G J van Ommen; P L Pearson
Journal:  Am J Hum Genet       Date:  1985-03       Impact factor: 11.025
  10 in total
  22 in total

1.  Prenatal exclusion of Norrie's disease.

Authors:  R M Redmond; C A Graham; E D Kelly; M Coleman; N C Nevin
Journal:  Br J Ophthalmol       Date:  1992-08       Impact factor: 4.638

2.  Linkage analysis of Norrie disease with X-chromosomal ornithine aminotransferase.

Authors:  J B Bateman
Journal:  Trans Am Ophthalmol Soc       Date:  1992

3.  Localization of the microsatellite probe DXS426 between DXS7 and DXS255 on Xp and linkage to X-linked retinitis pigmentosa.

Authors:  M Coleman; S Bhattacharya; S Lindsay; A Wright; M Jay; M Litt; I Craig; K Davies
Journal:  Am J Hum Genet       Date:  1990-12       Impact factor: 11.025

4.  Two sisters with Rett syndrome.

Authors:  C A Haenggeli; J Moura-Serra; C D DeLozier-Blanchet
Journal:  J Autism Dev Disord       Date:  1990-03

5.  Localisation of the gene for Norrie disease to between DXS7 and DXS426 on Xp.

Authors:  S Lindsay; D L Thiselton; J B Bateman; J T Ngo; R S Sparkes; M Coleman; K E Davies; S S Bhattacharya
Journal:  Hum Genet       Date:  1992-01       Impact factor: 4.132

Review 6.  X linked mental retardation.

Authors:  I A Glass
Journal:  J Med Genet       Date:  1991-06       Impact factor: 6.318

7.  Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements.

Authors:  Annabel Whibley; Jill Urquhart; Jonathan Dore; Lionel Willatt; Georgina Parkin; Lorraine Gaunt; Graeme Black; Dian Donnai; F Lucy Raymond
Journal:  Eur J Hum Genet       Date:  2010-05-19       Impact factor: 4.246

8.  Refractory epilepsy in Norrie disease.

Authors:  Gonçalo Cação; Cristina Garrido; Vasco Miranda; Jorge Pinto-Basto; João Chaves; Rui Chorão
Journal:  Neurol Sci       Date:  2018-05-03       Impact factor: 3.307

9.  Structure of the human gene for monoamine oxidase type A.

Authors:  Z Y Chen; G S Hotamisligil; J K Huang; L Wen; D Ezzeddine; N Aydin-Muderrisoglu; J F Powell; R H Huang; X O Breakefield; I Craig
Journal:  Nucleic Acids Res       Date:  1991-08-25       Impact factor: 16.971

10.  Characterization and mapping of the mouse NDP (Norrie disease) locus (Ndp).

Authors:  E M Battinelli; Y Boyd; I W Craig; X O Breakefield; Z Y Chen
Journal:  Mamm Genome       Date:  1996-02       Impact factor: 2.957
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