Literature DB >> 14230113

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

H FORSIUS, A W ERIKSSON.   

Abstract

Entities:  

Keywords:  ALBINISM; ASTIGMATISM; CHROMOSOME ABNORMALITIES; COLOR BLINDNESS; EYE DISEASES; FUNDUS OCULI; MACULA LUTEA; MYOPIA; NYSTAGMUS

Mesh：

Year:  1964        PMID： 14230113

Source DB:  PubMed          Journal:  Klin Monbl Augenheilkd        ISSN： 0023-2165            Impact factor:   0.700


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  16 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.  Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy.

Authors:  D A Pillers; J A Towbin; J S Chamberlain; D Wu; J Ranier; B R Powell; E R McCabe
Journal:  Am J Hum Genet       Date:  1990-11       Impact factor: 11.025

3.  Aland island eye disease: clinical and electrophysiological studies of a Welsh family.

Authors:  N R Hawksworth; S Headland; P Good; N S Thomas; A Clarke
Journal:  Br J Ophthalmol       Date:  1995-05       Impact factor: 4.638

4.  Clinical features of affected males with X linked ocular albinism.

Authors:  S J Charles; J S Green; J W Grant; J R Yates; A T Moore
Journal:  Br J Ophthalmol       Date:  1993-04       Impact factor: 4.638

5.  Albinism: phenotype or genotype?

Authors:  D B van Dorp; N J van Haeringen; J W Delleman; P Apkarian; W Westerhof
Journal:  Doc Ophthalmol       Date:  1983-12-15       Impact factor: 2.379

6.  Retinal findings in a patient of French ancestry with CABP4-related retinal disease.

Authors:  Vasily Mikhaïlovitch Smirnov; Christina Zeitz; Nagasamy Soumittra; Isabelle Audo; Sabine Defoort-Dhellemmes
Journal:  Doc Ophthalmol       Date:  2018-03-10       Impact factor: 2.379

7.  Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing.

Authors:  Uppala Ratnamala; Robert Lyle; Rakesh Rawal; Raminder Singh; Satti Vishnupriya; Pamini Himabindu; Vittal Rao; Somesh Aggarwal; Prasuna Paluru; Lucia Bartoloni; Terri L Young; Ariane Paoloni-Giacobino; Michael A Morris; Swapan K Nath; Stylianos E Antonarakis; Uppala Radhakrishna
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-08-29       Impact factor: 4.799

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

Authors:  P J Waardenburg
Journal:  J Med Genet       Date:  1970-09       Impact factor: 6.318

9.  Duchenne muscular dystrophy: negative electroretinograms and normal dark adaptation. Reappraisal of assignment of X linked incomplete congenital stationary night blindness.

Authors:  H Jensen; M Warburg; O Sjö; M Schwartz
Journal:  J Med Genet       Date:  1995-05       Impact factor: 6.318

10.  X-linked ocular albinism: a family containing a manifesting heterozygote, and an affected male married to a female with autosomal recessive ocular albinism.

Authors:  C Jaeger; B Jay
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132
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