(Q51952508)

18 April 2018

title

Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophy. (English)

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18 April 2018

author

Rajesh Thakker

5

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18 April 2018

Richard C Trembath

6

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author name string

Micheala A Aldred

1

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18 April 2018

Salim Aftimos

2

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18 April 2018

Christine Hall

3

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18 April 2018

Katie S Waters

4

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Louise Brueton

7

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publication date

1 November 2002

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18 April 2018

American Journal of Medical Genetics Part A

published in

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18 April 2018

volume

113

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18 April 2018

issue

2

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18 April 2018

page(s)

167-172

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18 April 2018

Germline mosaicism for a GNAS1 mutation and Albright hereditary osteodystrophy

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10751

Deletions of chromosome 20q and the pathogenesis of myeloproliferative disorders

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10751

Imprinting in Albright's hereditary osteodystrophy

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10751

Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10751

An imprinted antisense transcript at the human GNAS1 locus

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10751

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10751

Imprinting of the G(s)alpha gene GNAS1 in the pathogenesis of acromegaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10751

Two overlapping reading frames in a single exon encode interacting proteins--a novel way of gene usage

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10751

Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10751

New assignment of the adenosine deaminase gene locus to chromosome 20q13 X 11 by study of a patient with interstitial deletion 20q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10751

Albright hereditary osteodystrophy and del(2)(q37.3) in four unrelated individuals

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10751

Chromosome 20 long arm deletion in an elderly malformed man

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10751

Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10751

A simplified assessment of response to parathyroid hormone in hypoparathyroid patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10751

Albright's hereditary osteodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10751

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10751

A deletion hot-spot in exon 7 of the Gs alpha gene (GNAS1) in patients with Albright hereditary osteodystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10751

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10751

21 January 2018

Identifiers

DOI

10.1002/AJMG.10751

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18 April 2018

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18 April 2018