Lowe syndrome (Q21203050)

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scientific article

Language	Label	Description	Also known as
English	Lowe syndrome	scientific article

Statements

scholarly article

0 references

5 references

7 March 2019

24 March 2019

22 April 2019

25 April 2019

6 July 2020

Lowe syndrome (English)

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oculocerebrorenal syndrome

6 references

7 March 2019

24 March 2019

22 April 2019

25 April 2019

29 May 2020

6 July 2020

author name string

Mario Loi

1

author given names

Mario

author last names

Loi

1 reference

Dimensions Publication ID

18 August 2022

language of work or name

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publication date

18 May 2006

6 references

7 March 2019

24 March 2019

22 April 2019

25 April 2019

29 May 2020

6 July 2020

Orphanet Journal of Rare Diseases

6 references

7 March 2019

24 March 2019

22 April 2019

25 April 2019

29 May 2020

6 July 2020

1

0 references

1

0 references

16

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copyright license

Creative Commons Attribution 2.0 Generic

6 references

Europe PubMed Central

7 March 2019

Europe PubMed Central

24 March 2019

Europe PubMed Central

22 April 2019

Europe PubMed Central

25 April 2019

Europe PubMed Central

29 May 2020

Europe PubMed Central

6 July 2020

copyright status

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on focus list of Wikimedia project

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https://scigraph.springernature.com/pub.10.1186/1750-1172-1-16

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Dent Disease with mutations in OCRL1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1526415

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1526415

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1526415

19 March 2017

Inositol phosphates and cell signalling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1526415

7 April 2017

Structure and function of the Lowe syndrome protein OCRL1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1526415

12 September 2017

The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1526415

12 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1526415

12 September 2017

Cognitive and behavioral profile of the oculocerebrorenal syndrome of Lowe

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1526415

12 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1526415

12 September 2017

A balanced de novo X/autosome translocation in a girl with manifestations of Lowe syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1526415

12 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1526415

12 September 2017

Lowe oculocerebrorenal syndrome in a female with a balanced X;20 translocation: mapping of the X chromosome breakpoint

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1526415

12 September 2017

Lowe's syndrome: identification of carriers by lens examination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1526415

12 September 2017

Pathogenesis of cataracts in patients with Lowe's syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1526415

27 September 2017

Lenticular opacities in carriers of Lowe's syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1526415

27 September 2017

Hyperamino-aciduria in Lignac-Fanconi disease, in galactosaemia and in an obscure syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1526415

30 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1526415

30 May 2018

MRI findings and peripheral neuropathy in Lowe's syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1526415

30 May 2018

Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1526415

30 May 2018

Periventricular white matter cystic lesions in Lowe (oculocerebrorenal) syndrome. A new MR finding

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1526415

30 May 2018

THE OCULO-CEREBRO-RENAL SYNDROME OF LOWE.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1526415

29 November 2018

OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1526415

29 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1526415

29 November 2018

Identifiers

10.1186/1750-1172-1-16

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Dimensions Publication ID

0 references

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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