Literature DB >> 5489090

Some notes on publications of Professor Arnold Sorsby and on Aland eye disease (Forsius-Eriksson syndrome).

P J Waardenburg.   

Abstract

Entities:  

Mesh:

Year:  1970        PMID: 5489090      PMCID: PMC1468886          DOI: 10.1136/jmg.7.3.194

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


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  3 in total

1.  CONE DYSFUNCTION SYNDROMES.

Authors:  G GOODMAN; H RIPPS; I M SIEGEL
Journal:  Arch Ophthalmol       Date:  1963-08

2.  [A NEW EYE SYNDROME WITH X-CHROMOSOMAL TRANSMISSION. A FAMILY CLAN WITH FUNDUS ALBINISM, FOVEA HYPOPLASIA, NYSTAGMUS, MYOPIA, ASTIGMATISM AND DYSCHROMATOPSIA].

Authors:  H FORSIUS; A W ERIKSSON
Journal:  Klin Monbl Augenheilkd       Date:  1964-04       Impact factor: 0.700

3.  Differentiation and evaluation of rod and cone system responses in the human electroretinogram.

Authors:  H E HENKES
Journal:  Ophthalmologica       Date:  1958-02       Impact factor: 3.250

  3 in total
  3 in total

1.  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

2.  Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark.

Authors:  Marianne N Hove; Kevser Z Kilic-Biyik; Alana Trotter; Karen Grønskov; Birgit Sander; Michael Larsen; Joseph Carroll; Torben Bech-Hansen; Thomas Rosenberg
Journal:  Invest Ophthalmol Vis Sci       Date:  2016-12-01       Impact factor: 4.799

3.  A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness.

Authors:  Usman Mahmood; Cécile Méjécase; Syed M A Ali; Mariya Moosajee; Igor Kozak
Journal:  Genes (Basel)       Date:  2021-01-27       Impact factor: 4.096

  3 in total

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