(Q53938819)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12621129%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

title

Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12621129%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

main subject

pseudohypoparathyroidism

1 reference

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12621129%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Martina Olivero

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12621129%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

author name string

Luisa De Sanctis

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12621129%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Damiano Romagnolo

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12621129%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Fabio Buzi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12621129%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Mohamad Maghnie

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12621129%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Giuseppe Scirè

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12621129%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Antonio Crino

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12621129%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Giampiero Igli Baroncelli

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12621129%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Mariacarolina Salerno

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12621129%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Salvatore Di Maio

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12621129%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Salvatore Grosso

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12621129%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Franco Rigon

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12621129%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Roberto Lala

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12621129%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Carlo De Sanctis

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12621129%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Irma Dianzani

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12621129%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

language of work or name

English

0 references

publication date

5 March 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12621129%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12621129%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

volume

53

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12621129%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12621129%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

page(s)

749-755

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12621129%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1203/01.pdr.0000059752.07086.a2

1 November 2019

exact match

0 references

cites work

Pseudohypoparathyroidism: defective excretion of 3',5'-AMP in response to parathyroid hormone

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000059752.07086.A2

Heterotrimeric G proteins.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000059752.07086.A2

Clinical and biological heterogeneity in pseudohypoparathyroidism syndrome. Results of a multicenter study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000059752.07086.A2

Pseudohypoparathyroidism. New insights into an old disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000059752.07086.A2

Activity of the stimulatory guanine nucleotide-binding protein is reduced in erythrocytes from patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism: biochemical, endocrine, and genetic analysis of Albright's hereditary osteodyst

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000059752.07086.A2

Isolation and characterization of the human Gs alpha gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000059752.07086.A2

Genetic deficiency of the alpha subunit of the guanine nucleotide-binding protein Gs as the molecular basis for Albright hereditary osteodystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000059752.07086.A2

Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000059752.07086.A2

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/10.1203%2F01.PDR.0000059752.07086.A2

An inherited mutation associated with functional deficiency of the alpha-subunit of the guanine nucleotide-binding protein Gs in pseudo- and pseudopseudohypoparathyroidism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000059752.07086.A2

Imprinting in Albright's hereditary osteodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000059752.07086.A2

Parental origin of transcription from the human GNAS1 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000059752.07086.A2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000059752.07086.A2

Pseudohypoparathyroidism. Variable manifestations within a family

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000059752.07086.A2

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/10.1203%2F01.PDR.0000059752.07086.A2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000059752.07086.A2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000059752.07086.A2

A GNAS1 imprinting defect in pseudohypoparathyroidism type IB

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000059752.07086.A2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000059752.07086.A2

Pseudohypoparathyroidism type Ia: two new heterozygous frameshift mutations in exons 5 and 10 of the Gs alpha gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000059752.07086.A2

Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000059752.07086.A2

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/10.1203%2F01.PDR.0000059752.07086.A2

Mutational analysis of GNAS1 in patients with pseudohypoparathyroidism: identification of two novel mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000059752.07086.A2

Crystal structure of the adenylyl cyclase activator Gsalpha

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000059752.07086.A2

Translation to near the distal end of the penultimate exon is required for normal levels of spliced triosephosphate isomerase mRNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000059752.07086.A2

Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000059752.07086.A2

Four novelMSH2 andMLH1 frameshift mutations and occurrence of a breast cancer phenocopy in hereditary nonpolyposis colorectal cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000059752.07086.A2

10.1203/01.PDR.0000059752.07086.A2

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12621129%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

1 November 2019

1024039036

0 references

Fatcat ID

release_jsew5bjutffftgws3y3rv3glem

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/jsew5bjutffftgws3y3rv3glem

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference