Lowe syndrome in a 20-year-old male: the clinical course and genetic analysis in OCRL1

2011 ◽  
Vol 24 (2) ◽  
pp. 211-217
Author(s):  
Yuichirou Tsuji ◽  
Takahiro Murata ◽  
Hiroshi Watanabe ◽  
Toshikazu Shinbo ◽  
Sei Ishiguro ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Clinical Course ◽  
Lowe Syndrome

scholarly journals A Role of the Lowe Syndrome Protein OCRL in Early Steps of the Endocytic Pathway

2007 ◽  
Vol 13 (3) ◽  
pp. 377-390 ◽  
Author(s):  
Kai S. Erdmann ◽  
Yuxin Mao ◽  
Heather J. McCrea ◽  
Roberto Zoncu ◽  
Sangyoon Lee ◽  
...  
Keyword(s):  
Endocytic Pathway ◽  
Lowe Syndrome ◽  
Syndrome Protein

scholarly journals The Cellular and Physiological Functions of the Lowe Syndrome Protein OCRL1

Traffic ◽  
2014 ◽  
Vol 15 (5) ◽  
pp. 471-487 ◽  
Author(s):  
Zenobia B. Mehta ◽  
Grzegorz Pietka ◽  
Martin Lowe
Keyword(s):  
Lowe Syndrome ◽  
Physiological Functions ◽  
Syndrome Protein

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

2011 ◽  
Vol 129 (5) ◽  
pp. 513-519 ◽  
Author(s):  
Markus Draaken ◽  
Carmen A. Giesen ◽  
Anne L. Kesselheim ◽  
Ronald Jabs ◽  
Stefan Aretz ◽  
...  
Keyword(s):  
De Novo ◽  
Lowe Syndrome ◽  
Nucleotide Substitutions

A comparison of splicing assays to detect an intronic variant of the OCRL gene in Lowe syndrome

2017 ◽  
Vol 60 (12) ◽  
pp. 631-634 ◽  
Author(s):  
Keita Nakanishi ◽  
Kandai Nozu ◽  
Ryugo Hiramoto ◽  
Shogo Minamikawa ◽  
Tomohiko Yamamura ◽  
...  
Keyword(s):  
Lowe Syndrome ◽  
Ocrl Gene

Other Syndromes: Lowe Syndrome

2016 ◽  
pp. 883-885
Author(s):  
Donald E. Greydanus ◽  
Helen D. Pratt ◽  
Marlene Pryson
Keyword(s):  
Lowe Syndrome
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