(Q34390757)

1 August 2017

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

1 reference

ORCID Public Data File 2021

1 August 2017

1 reference

author name string

V Satre

1

1 reference

1 August 2017

N Monnier

2

1 reference

1 August 2017

F Berthoin

3

1 reference

1 August 2017

C Ayuso

4

1 reference

1 August 2017

A Joannard

5

1 reference

1 August 2017

P S Jouk

6

1 reference

1 August 2017

I Lopez-Pajares

7

1 reference

1 August 2017

A Megabarne

8

1 reference

1 August 2017

H J Philippe

9

1 reference

1 August 2017

H Plauchu

10

1 reference

1 August 2017

M L Torres

11

1 reference

1 August 2017

J Lunardi

12

1 reference

1 August 2017

language of work or name

English

0 references

publication date

1 July 1999

1 reference

American Journal of Human Genetics

1 August 2017

1 reference

1 August 2017

65

1 reference

1 August 2017

68-76

1 reference

1 August 2017

1

1 reference

Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity

1 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378076

Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378076

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378076

Cell lines from kidney proximal tubules of a patient with Lowe syndrome lack OCRL inositol polyphosphate 5-phosphatase and accumulate phosphatidylinositol 4,5-bisphosphate

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378076

Inositol lipid 5-phosphatases--traffic signals and signal traffic.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378076

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378076

The family of inositol and phosphatidylinositol polyphosphate 5-phosphatases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378076

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378076

Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378076

Properties of type II inositol polyphosphate 5-phosphatase

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378076

The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378076

Easy calculations of lod scores and genetic risks on small computers

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378076

Gonadal mosaicism and genetic counseling for X-linked recessive lethals

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378076

A rapid method for the purification of DNA from blood

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378076

A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378076

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378076

Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378076

A second-generation linkage map of the human genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378076

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378076

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378076

Germline mosaicism and Duchenne muscular dystrophy mutations

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378076

[Anatomical verifications in a child with Lowe's syndrome.]

9 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10364518

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10364518

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/302443

1 reference

1 August 2017

1 reference

1 August 2017

1 reference