Literature DB >> 7966198

Identification of a key recombinant which assigns the incomplete congenital stationary night blindness gene proximal to MAOB.

A A Bergen1, P Kestelyn, M Leys, F Meire.   

Abstract

The gene for complete congenital stationary night blindness (CSNB1) has been assigned to the Xp11.3 region. However, little evidence has been provided for the assignment of the incomplete congenital stationary night blindness gene (CSNB2). Here we present the clinical and molecular data from a CSNB2 family which show a key recombinant assigning the CSNB2 gene proximal to MAOB.

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Year:  1994        PMID： 7966198      PMCID： PMC1049985          DOI： 10.1136/jmg.31.7.580

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


  15 in total

1.  Linkage analysis in X-linked congenital stationary night blindness.

Authors:  M A Aldred; K L Dry; D M Sharp; D B Van Dorp; J Brown; L J Hardwick; D H Lester; F E Pryde; P W Teague; M Jay
Journal:  Genomics       Date:  1992-09       Impact factor: 5.736

2.  Aland eye disease: linkage data.

Authors:  M Schwartz; T Rosenberg
Journal:  Genomics       Date:  1991-06       Impact factor: 5.736

3.  [Analysis of the human electroretinogram].

Authors:  G SCHUBERT; H BORNSCHEIN
Journal:  Ophthalmologica       Date:  1952-06       Impact factor: 3.250

4.  Localization of the Aland Island eye disease locus to the pericentromeric region of the X chromosome by linkage analysis.

Authors:  T Alitalo; T A Kruse; H Forsius; A W Eriksson; A de la Chapelle
Journal:  Am J Hum Genet       Date:  1991-01       Impact factor: 11.025

5.  Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on Xp.

Authors:  A Gal; A Schinzel; U Orth; N A Fraser; F Mollica; I W Craig; T Kruse; M Mächler; M Neugebauer; L M Bleeker-Wagemakers
Journal:  Hum Genet       Date:  1989-03       Impact factor: 4.132

6.  Congenital stationary night blindness with negative electroretinogram. A new classification.

Authors:  Y Miyake; K Yagasaki; M Horiguchi; Y Kawase; T Kanda
Journal:  Arch Ophthalmol       Date:  1986-07

7.  Detection of a new submicroscopic Norrie disease deletion interval with a novel DNA probe isolated by differential Alu PCR fingerprint cloning.

Authors:  A A Bergen; M C Wapenaar; E J Schuurman; P J Diergaarde; H Lerach; A P Monaco; E Bakker; E M Bleeker-Wagemakers; G J van Ommen
Journal:  Cytogenet Cell Genet       Date:  1993

Review 8.  X-linked congenital stationary night blindness. Review and report of a family with hyperopia.

Authors:  G Khouri; M B Mets; V C Smith; M Wendell; A S Pass
Journal:  Arch Ophthalmol       Date:  1988-10

9.  Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome.

Authors:  I A Glass; P Good; M P Coleman; P Fullwood; M G Giles; S Lindsay; A H Nemeth; K E Davies; H A Willshaw; A Fielder
Journal:  J Med Genet       Date:  1993-12       Impact factor: 6.318

10.  Mapping of locus for X-linked congenital stationary night blindness (CSNB1) proximal to DXS7.

Authors:  N T Bech-Hansen; B J Moore; W G Pearce
Journal:  Genomics       Date:  1992-02       Impact factor: 5.736
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  2 in total

1.  Conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1.

Authors:  A A Bergen; J B ten Brink; F Riemslag; E J Schuurman; F Meire; N Tijmes; P T de Jong
Journal:  J Med Genet       Date:  1996-10       Impact factor: 6.318

2.  Evidence for genetic heterogeneity in X-linked congenital stationary night blindness.

Authors:  K M Boycott; W G Pearce; M A Musarella; R G Weleber; T A Maybaum; D G Birch; Y Miyake; R S Young; N T Bech-Hansen
Journal:  Am J Hum Genet       Date:  1998-04       Impact factor: 11.025
  2 in total

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