Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosis (Q34326917)

1 August 2017

title

Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosis (English)

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Abderhalden–Kaufmann–Lignac syndrome

1 August 2017

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based on heuristic

inferred from title

author

Nicole Morichon-Delvallez

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object named as

Nicole Morichon-Delvallez

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Vincent Morinière

object named as

Vincent Morinière

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Corinne Antignac

object named as

Corinne Antignac

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author name string

Anne-Sophie Lebre

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Olivier Dunand

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Albert Bensman

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Nicole Morichon-Delvallez

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1 August 2017

publication date

4 March 2009

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European Journal of Human Genetics

1 August 2017

published in

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volume

17

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issue

8

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page(s)

1019-1023

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Global analysis of uniparental disomy using high density genotyping arrays

1 August 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986554

Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986554

Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986554

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986554

Intravenous cysteamine therapy for nephropathic cystinosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986554

Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986554

Linkage of the gene for cystinosis to markers on the short arm of chromosome 17

6 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.13

Partial maternal heterodisomy of chromosome 17q25 in a case of severe mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.13

Fetus with two identical reciprocal translocations: description of a rare complication of consanguinity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.13

Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.13

Mosaic trisomy 17 in amniocytes: phenotypic outcome, tissue distribution and uniparental disomy studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.13

21 January 2018

Identifiers

DOI

10.1038/EJHG.2009.13

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1 August 2017

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1 August 2017

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