(Q28362180)

English

Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

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Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism (English)

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

pseudohypoparathyroidism

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Harald Jüppner

3

object named as

H Jüppner

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

author name string

M Bastepe

1

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

A H Lane

2

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

language of work or name

0 references

publication date

9 April 2001

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

68

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

5

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

1283-1289

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

Mechanisms leading to uniparental disomy and their clinical consequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226109

20 March 2017

An imprinted transcript, antisense to Nesp, adds complexity to the cluster of imprinted genes at the mouse Gnas locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226109

20 March 2017

Two frequent tetra-nucleotide repeat polymorphisms between VAPB and STX16 on chromosome 20q13

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226109

20 March 2017

Cloning of human neuronatin gene and its localization to chromosome-20q 11.2-12: the deduced protein is a novel "proteolipid'

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226109

20 March 2017

A GNAS1 imprinting defect in pseudohypoparathyroidism type IB

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226109

29 September 2017

Pseudohypoparathyroidism. New insights into an old disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226109

29 September 2017

An imprinted antisense transcript at the human GNAS1 locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226109

29 September 2017

The impact of genomic imprinting for neurobehavioral and developmental disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226109

29 September 2017

Maternal UPD 20 in a hyperactive child with severe growth retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226109

29 September 2017

Abnormal phenotypes in uniparental disomy (UPD): fundamental aspects and a critical review with bibliography of UPD other than 15.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226109

29 September 2017

A cluster of oppositely imprinted transcripts at the Gnas locus in the distal imprinting region of mouse chromosome 2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226109

29 September 2017

Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226109

29 September 2017

The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226109

29 September 2017

The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226109

29 September 2017

Variable and tissue-specific hormone resistance in heterotrimeric Gs protein alpha-subunit (Gsalpha) knockout mice is due to tissue-specific imprinting of the gsalpha gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226109

29 September 2017

Imprinting in Albright's hereditary osteodystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226109

29 September 2017

Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226109

29 September 2017

A human parthenogenetic chimaera.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226109

2 June 2018

Effects of endogenous and exogenous parathyroid hormone on tubular reabsorption of calcium in pseudohypoparathyroidism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226109

2 June 2018

The sins of the fathers and mothers: genomic imprinting in mammalian development.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226109

27 November 2018

Pseudohypoparathyroidism type Ia from maternal but not paternal transmission of a Gsalpha gene mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226109

27 November 2018

Genetic and functional analysis of neuronatin in mice with maternal or paternal duplication of distal Chr 2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226109

27 November 2018

Pseudohypohyperparathyroidism-pseudohypoparathyroidism type Ib

1 reference

https://pubmed.ncbi.nlm.nih.gov/11294659

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

release_2ti2oqs63zbxbnyeznfrd2bbbe

0 references

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

ResearchGate publication ID

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