Literature DB >> 953207

Lowe syndrome: identification of the carrier state.

N Brown, R J Gardner.   

Abstract

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Year:  1976        PMID: 953207

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN: 0547-6844


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  6 in total

1.  Lowe's syndrome: identification of carriers by lens examination.

Authors:  R J Gardner; N Brown
Journal:  J Med Genet       Date:  1976-12       Impact factor: 6.318

2.  Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family.

Authors:  Markus Draaken; Carmen A Giesen; Anne L Kesselheim; Ronald Jabs; Stefan Aretz; Monika Kugaudo; Krystyna H Chrzanowska; Malgorzata Krajewska-Walasek; Michael Ludwig
Journal:  Hum Genet       Date:  2011-01-12       Impact factor: 4.132

3.  Mapping the Lowe oculocerebrorenal syndrome to Xq24-q26 by use of restriction fragment length polymorphisms.

Authors:  D N Silver; R A Lewis; R L Nussbaum
Journal:  J Clin Invest       Date:  1987-01       Impact factor: 14.808

4.  Ascorbic acid and amino acid values in the aqueous humor of a patient with Lowe's syndrome.

Authors:  S Hayasaka; T Yamada; K Nitta; Y Kaji; S Hiraki; K Tachinami; M Matsumoto; S Yamamoto; S Yamamoto
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1997-04       Impact factor: 3.117

5.  [Clinical and genetic results with reference to corneal alterations in Lowe-syndrome].

Authors:  G Rudolph; P Kalpadakis; W Röschinger; C Haritoglou; S Kammerer; K-P Boergen; A Kampik
Journal:  Ophthalmologe       Date:  2004-06       Impact factor: 1.059

6.  Tightly linked flanking markers for the Lowe oculocerebrorenal syndrome, with application to carrier assessment.

Authors:  D S Reilly; R A Lewis; D H Ledbetter; R L Nussbaum
Journal:  Am J Hum Genet       Date:  1988-05       Impact factor: 11.025

  6 in total

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