(Q51014930)

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Simultaneous hyper- and hypomethylation at imprinted loci in a subset of patients with GNAS epimutations underlies a complex and different mechanism of multilocus methylation defect in pseudohypoparathyroidism type 1b.

scientific article published on 28 May 2013

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23649963%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Simultaneous hyper- and hypomethylation at imprinted loci in a subset of patients with GNAS epimutations underlies a complex and different mechanism of multilocus methylation defect in pseudohypoparathyroidism type 1b (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23649963%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

pseudohypoparathyroidism type IB

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inferred from title

10

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29 February 2020

2

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29 February 2020

Guiomar Perez de Nanclares

7

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29 February 2020

Agnès Linglart

11

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29 February 2020

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Caroline Silve

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29 February 2020

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Stéphanie Maupetit-Méhouas

1

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29 February 2020

Virginie Steunou

3

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29 February 2020

Nathalie Sakakini

4

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29 February 2020

Christelle Reynes

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29 February 2020

Boris Keren

8

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29 February 2020

Sandra Chantot

9

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29 February 2020

Irène Netchine

12

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29 February 2020

publication date

28 May 2013

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29 February 2020

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29 February 2020

34

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29 February 2020

8

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29 February 2020

1172-1180

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29 February 2020

Lessons from imprinted multilocus loss of methylation in human syndromes: A step toward understanding the mechanisms underlying these complex diseases.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

21 January 2018

Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

21 January 2018

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

21 January 2018

The human L(3)MBT polycomb group protein is a transcriptional repressor and interacts physically and functionally with TEL (ETV6)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

21 January 2018

Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

21 January 2018

Deletion of the noncoding GNAS antisense transcript causes pseudohypoparathyroidism type Ib and biparental defects of GNAS methylation in cis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

21 January 2018

Transcription is required for establishment of germline methylation marks at imprinted genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

21 January 2018

Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

21 January 2018

Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

21 January 2018

Intragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: potential for misdiagnosis of pseudohypoparathyroidism type 1B

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

21 January 2018

Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: evidence for an autosomal recessive form of PHP-Ib?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

21 January 2018

H19 acts as a trans regulator of the imprinted gene network controlling growth in mice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

21 January 2018

L3MBTL1 polycomb protein, a candidate tumor suppressor in del(20q12) myeloid disorders, is essential for genome stability

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

21 January 2018

Uniparental disomies 7 and 14.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

21 January 2018

Mechanisms of imprinting of the Prader-Willi/Angelman region.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

21 January 2018

Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

21 January 2018

Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

21 January 2018

Increased incidence of aberrant DNA methylation within diverse imprinted gene loci outside of IGF2/H19 in Silver-Russell syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

21 January 2018

RNA traffic control of chromatin complexes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

21 January 2018

Abnormal maternal behaviour and growth retardation associated with loss of the imprinted gene Mest

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

21 January 2018

Imprinting of the human L3MBTL gene, a polycomb family member located in a region of chromosome 20 deleted in human myeloid malignancies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

21 January 2018

A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

21 January 2018

A GNAS1 imprinting defect in pseudohypoparathyroidism type IB

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

21 January 2018

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

21 January 2018

A maternal epimutation of GNAS leads to Albright osteodystrophy and parathyroid hormone resistance.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

21 January 2018

Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

21 January 2018

Epigenetic reprogramming in mammals

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

21 January 2018

Somatic mosaicism in patients with Angelman syndrome and an imprinting defect

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

21 January 2018

Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

21 January 2018

Chromatin protein L3MBTL1 is dispensable for development and tumor suppression in mice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

21 January 2018

Expression patterns and miRNA regulation of DNA methyltransferases in chicken primordial germ cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

21 January 2018

A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

21 January 2018

The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

21 January 2018

Multiple Hypothesis Testing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

21 January 2018

A role for RNAi in the selective correction of DNA methylation defects.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

21 January 2018

Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

21 January 2018

Intrauterine growth of live-born Caucasian infants at sea level: standards obtained from measurements in 7 dimensions of infants born between 25 and 44 weeks of gestation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

21 January 2018

Zac1 regulates an imprinted gene network critically involved in the control of embryonic growth

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

21 January 2018

Role for piRNAs and noncoding RNA in de novo DNA methylation of the imprinted mouse Rasgrf1 locus.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

21 January 2018

Interruption of intrachromosomal looping by CCCTC binding factor decoy proteins abrogates genomic imprinting of human insulin-like growth factor II.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

21 January 2018

Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

21 January 2018

Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

7 January 2021

based on heuristic

inferred from DOI database lookup

Allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell Silver and Beckwith Wiedemann syndromes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

7 January 2021

based on heuristic

inferred from DOI database lookup

Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

7 January 2021

based on heuristic

inferred from DOI database lookup

Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

7 January 2021

based on heuristic

inferred from DOI database lookup

A new approach to imprinting mutation detection in GNAS by Sequenom EpiTYPER system

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

7 January 2021

based on heuristic

inferred from DOI database lookup

Similar clinical and laboratory findings in patients with symptomatic autosomal dominant and sporadic pseudohypoparathyroidism type Ib despite different epigenetic changes at the GNAS locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

7 January 2021

based on heuristic

inferred from DOI database lookup

A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

7 January 2021

based on heuristic

inferred from DOI database lookup

Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

7 January 2021

based on heuristic

inferred from DOI database lookup

Gsα activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the GNAS locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22352

7 January 2021

based on heuristic

inferred from DOI database lookup

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