Literature DB >> 25182134

Clinical utility gene card for: Lowe syndrome.

Arend Bökenkamp1, Elena Levtchenko2, Florian Recker3, Michael Ludwig3.   

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Year:  2014        PMID： 25182134      PMCID： PMC4795061          DOI： 10.1038/ejhg.2014.177

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  12 in total

1.  The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase.

Authors:  O Attree; I M Olivos; I Okabe; L C Bailey; D L Nelson; R A Lewis; R R McInnes; R L Nussbaum
Journal:  Nature       Date:  1992-07-16       Impact factor: 49.962

2.  From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.

Authors:  Haifa Hichri; John Rendu; Nicole Monnier; Charles Coutton; Olivier Dorseuil; Rosa Vargas Poussou; Geneviève Baujat; Anne Blanchard; François Nobili; Bruno Ranchin; Michel Remesy; Rémi Salomon; Véronique Satre; Joel Lunardi
Journal:  Hum Mutat       Date:  2011-03-10       Impact factor: 4.878

3.  Physical mapping and genomic structure of the Lowe syndrome gene OCRL1.

Authors:  R L Nussbaum; B M Orrison; P A Jänne; L Charnas; A C Chinault
Journal:  Hum Genet       Date:  1997-02       Impact factor: 4.132

4.  Clinical utility gene card for: Dent disease (Dent-1 and Dent-2).

Authors:  Michael Ludwig; Elena Levtchenko; Arend Bökenkamp
Journal:  Eur J Hum Genet       Date:  2014-03-12       Impact factor: 4.246

5.  Identification and characterization of the phosphatidylinositol-(4, 5)-bisphosphate 5-phosphatase in human platelets.

Authors:  M Matzaris; S P Jackson; K M Laxminarayan; C J Speed; C A Mitchell
Journal:  J Biol Chem       Date:  1994-02-04       Impact factor: 5.157

6.  Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction.

Authors:  Detlef Bockenhauer; Arend Bokenkamp; William van't Hoff; Elena Levtchenko; Joana E Kist-van Holthe; Velibor Tasic; Michael Ludwig
Journal:  Clin J Am Soc Nephrol       Date:  2008-05-14       Impact factor: 8.237

7.  Development of a multiplex ligation-dependent probe amplification (MLPA) assay for quantification of the OCRL1 gene.

Authors:  Charles Coutton; Nicole Monnier; John Rendu; Joël Lunardi
Journal:  Clin Biochem       Date:  2010-01-04       Impact factor: 3.281

8.  Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes.

Authors:  T Kawano; Y Indo; H Nakazato; M Shimadzu; I Matsuda
Journal:  Am J Med Genet       Date:  1998-06-05

9.  Dent-2 disease: a mild variant of Lowe syndrome.

Authors:  Arend Bökenkamp; Detlef Böckenhauer; Hae Il Cheong; Bernd Hoppe; Velibor Tasic; Robert Unwin; Michael Ludwig
Journal:  J Pediatr       Date:  2009-07       Impact factor: 4.406

Review 10.  Lowe syndrome.

Authors:  Mario Loi
Journal:  Orphanet J Rare Dis       Date:  2006-05-18       Impact factor: 4.123
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