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

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About: Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib Goto Sponge NotDistinct Permalink

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scientific article published on 23 October 2010

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rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в жовтні 2010 (uk) artículu científicu espublizáu n'ochobre de 2010 (ast) scientific article published on 23 October 2010 (en) im Oktober 2010 veröffentlicher wissenschaftlicher Artikel (de)
publication date	wds:Q82035471-F61A32E4-39A9-4B36-B250-2E5AB1FC5685
publication date	2010-10-23 00:00:00Z (xsd:dateTime)
author name string	wds:Q82035471-13E5EF89-D36B-4666-BAFE-B0BFC5A86B2E wds:Q82035471-14401922-12D6-49A6-9648-6FCD8417DB18 wds:Q82035471-1F1B9F31-8A4C-4AD8-98F8-B9F2A5DE450E wds:Q82035471-320DEE46-91C8-4AF9-955B-B1064B57CA64 wds:Q82035471-4690AF32-D1FE-4096-A207-DA34A63E45C2 wds:Q82035471-533FDC7B-841E-4208-B0CC-DDE183D6E631 wds:Q82035471-74BCE64C-6BEB-44A0-B82A-E521768361F0 wds:Q82035471-8975C381-2E9F-4CB1-B864-9E52F940F819 wds:Q82035471-8DC6A030-7918-4A08-A27E-6063DDF34514 wds:Q82035471-B45B0018-B553-4114-A3FC-D613908156C0 wds:Q82035471-B7E50D57-39B0-4741-AFFC-F08C13030F31 wds:Q82035471-BF8C6B9D-895E-4E0F-98E6-C69F6DB09980 wds:Q82035471-C2D9DAA6-DF62-4E44-AC62-534402A3D21B wds:Q82035471-D5CC51BC-9B45-4959-90EE-82A89B77EF60 wds:Q82035471-FE8FFBA2-E5D6-4565-8CA5-D14068750488
author name string	Christelle Reynès Hélène Bihan Vincent Gajdos Stéphanie Maupetit-Méhouas Jean-Claude Carel Dominique Simon Francois Feillet Virginie Mariot Catherine Naud-Saudreau Anne Lienhardt Guylène Bertrand Savitha Shenoy Anne Ronan Eve Devouge Placide Agbo-Kpati
rdfs:label	Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib (en) Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib (nl)
skos:prefLabel	Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib (en) Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib (nl)
name	Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib (en) Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib (nl)
author	wds:Q82035471-9E648CB7-CF0C-4074-9780-0B2980C8A5E5 wds:Q82035471-F1FB5BF1-C89D-4000-BD03-2A5674D24CF9
author	Agnès Linglart Caroline Silve
title	wds:Q82035471-02623D75-312C-4311-8EE3-EF619CF833B2
title	Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib (en)
page(s)	wds:Q82035471-ECDB8119-071C-479D-BB92-5A2C263EBC56
page(s)	55-63
instance of	wds:Q82035471-BDC12543-A832-480A-9326-90D0A79BABC8
instance of	scholarly article
main subject	wds:Q82035471-E0814494-79A3-4796-ADFB-4BADCE7D09CC
main subject	pseudohypoparathyroidism type IB
PubMed ID	wds:Q82035471-D6E3D4D2-6B3F-423A-9D75-4498E86CDF13
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/20972248
PubMed ID	20972248
published in	wds:Q82035471-7712DE70-21EC-45BC-A928-838321C48428
published in	Journal of Medical Genetics
issue	wds:Q82035471-7AD77FFE-6A5F-4CC4-8B59-DD3BD5DAB7D3
volume	wds:Q82035471-5D6137F7-6FF7-4F10-ADC4-3330644E144D
issue	1
volume	48
DOI	wds:Q82035471-F1D357D1-F459-488F-BBFD-D9B2D002C345
DOI	http://dx.doi.org/10.1136/JMG.2010.081356
DOI	10.1136/JMG.2010.081356
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q82035471
is cites work of	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. De novo STX16 deletions: an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction An update on the clinical and molecular characteristics of pseudohypoparathyroidism. Loss of XLαs (extra-large αs) imprinting results in early postnatal hypoglycemia and lethality in a mouse model of pseudohypoparathyroidism Ib. Clinical utility gene card for: pseudohypoparathyroidism A Homozygous [Cys25]PTH(1-84) Mutation That Impairs PTH/PTHrP Receptor Activation Defines a Novel Form of Hypoparathyroidism European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study Pseudohypoparathyroidism Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion Gα signaling controls intramembranous ossification during cranial bone development by regulating both Hedgehog and Wnt/β-catenin signaling Pseudohypoparathyroidism: one gene, several syndromes Non-Coding RNAs at the Gnas and Snrpn-Ube3a Imprinted Gene Loci and Their Involvement in Hereditary Disorders Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: evidence for an autosomal recessive form of PHP-Ib? Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b. Methylation and transcripts expression at the imprinted GNAS locus in human embryonic and induced pluripotent stem cells and their derivatives A novel deletion involving GNAS exon 1 causes PHP1A and further refines the region required for normal methylation at exon A/B. Mosaicism for GNAS methylation defects associated with pseudohypoparathyroidism type 1B arose in early post-zygotic phases. Pseudohypoparathyroidism type 1B caused by methylation changes at the GNAS complex locus. High frequency of paternal iso or heterodisomy at chromosome 20 associated with sporadic pseudohypoparathyroidism 1B DNA Methylation in the Diagnosis of Monogenic Diseases Temple syndrome in a patient with variably methylated CpGs at the primary MEG3/DLK1:IG-DMR and severely hypomethylated CpGs at the secondary MEG3:TSS-DMR
is cites work of	wds:Q58547778-798D497A-97B3-4EBB-A625-A0E5D9B1F023 wds:Q59330240-1A7DD59E-7C0F-4959-BCD5-D8645E52421C wds:Q36087092-25FB90B6-5B48-4B92-BA33-2DADBD054040 wds:Q36433565-CC6B8E7A-A1AB-4447-A7C0-E60D0B6C0992 wds:Q36856436-9A116749-234F-43FF-9CE8-7187C6E4FB9E wds:Q34587621-C05A60BF-BDFA-40DE-8FA2-4BA234F0D11C wds:Q47697488-C09D3EDD-A330-4D9D-8A70-B7452B5E0105 wds:Q49895247-DD11D2FF-94BF-4299-A659-7150F67CB504

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