(Q49100339)

18 February 2018

title

Identification of a novel deletion of the entire OCRL1 gene detected by FISH analysis in a family with Lowe syndrome. (English)

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18 February 2018

author name string

J Peverall

1

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18 February 2018

E Edkins

2

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18 February 2018

J Goldblatt

3

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18 February 2018

A Murch

4

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18 February 2018

publication date

1 December 2000

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18 February 2018

published in

Clinical Genetics

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18 February 2018

volume

58

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18 February 2018

issue

6

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18 February 2018

page(s)

479-482

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18 February 2018

describes a project that uses

fluorescence in situ hybridization

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

inferred from title

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580609.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580609.X

Lowe syndrome, a deficiency of phosphatidylinositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580609.X

The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580609.X

Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580609.X

Oculocerebrorenal syndrome of Lowe: Three mutations in theOCRL1 gene derived from three patients with different phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580609.X

Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580609.X

Three submicroscopic deletions at the APC locus and their rapid detection by quantitative-PCR analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580609.X

Recurrence of DiGeorge syndrome: prenatal detection by FISH of a molecular 22q11 deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580609.X

First report of prenatal biochemical diagnosis of Lowe syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580609.X

7 January 2021

Molecular confirmation of carriers for Lowe syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580609.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580609.X

7 January 2021

Identification of two novel mutations in the OCRL1 gene in Japanese families with Lowe syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580609.X

7 January 2021

Construction of a panel of chromosome-specific oligonucleotide probes (PRINS-primers) useful for the identification of individual human chromosomes in situ

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580609.X

7 January 2021

PCR-based strategy for the diagnosis of hereditary neuropathy with liability to pressure palsies and Charcot-Marie-Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580609.X

7 January 2021

Detection of p16 gene deletions in gliomas: a comparison of fluorescence in situ hybridization (FISH) versus quantitative PCR.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.580609.X

7 January 2021

10.1034/J.1399-0004.2000.580609.X

Identifiers

DOI

1 reference

18 February 2018

1 reference

18 February 2018