A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib
about
The GNAS complex locus and human diseases associated with loss-of-function mutations or epimutations within this imprinted geneEpidemiology and Diagnosis of Hypoparathyroidism.Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunctionPseudohypoparathyroidism: one gene, several syndromes.Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b.Pseudohypoparathyroidism type Ib associated with novel duplications in the GNAS locusMutations in pseudohypoparathyroidism 1a and pseudopseudohypoparathyroidism in ethnic Chinese.Loss of methylation at GNAS exon A/B is associated with increased intrauterine growthTSH elevations as the first laboratory evidence for pseudohypoparathyroidism type Ib (PHP-Ib)GNAS Spectrum of Disorders.Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (sporPHP1B)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.Non-Coding RNAs at the Gnas and Snrpn-Ube3a Imprinted Gene Loci and Their Involvement in Hereditary Disorders.De novo STX16 deletions: an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases.Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects.Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS DeletionClinical utility gene card for: pseudohypoparathyroidism.An update on the clinical and molecular characteristics of pseudohypoparathyroidism.GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.Multilocus methylation defects in imprinting disorders.Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues.Heterotrimeric G proteins in the control of parathyroid hormone actions.Case 17-2017. A 14-Year-Old Boy with Acute Fear of Choking while Swallowing.A novel deletion involving GNAS exon 1 causes PHP1A and further refines the region required for normal methylation at exon A/B.A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).Mosaicism for GNAS methylation defects associated with pseudohypoparathyroidism type 1B arose in early post-zygotic phases.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.Osteosarcoma in a Patient With Pseudohypoparathyroidism Type 1b Due to Paternal Uniparental Disomy of Chromosome 20q.Hypoparathyroidism.
P2860
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P2860
A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib
description
2012 nî lūn-bûn
@nan
2012 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2012年の論文
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2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
A new deletion ablating NESP55 ...... eudohypoparathyroidism type Ib
@ast
A new deletion ablating NESP55 ...... eudohypoparathyroidism type Ib
@en
A new deletion ablating NESP55 ...... eudohypoparathyroidism type Ib
@en-gb
A new deletion ablating NESP55 ...... eudohypoparathyroidism type Ib
@nl
type
label
A new deletion ablating NESP55 ...... eudohypoparathyroidism type Ib
@ast
A new deletion ablating NESP55 ...... eudohypoparathyroidism type Ib
@en
A new deletion ablating NESP55 ...... eudohypoparathyroidism type Ib
@en-gb
A new deletion ablating NESP55 ...... eudohypoparathyroidism type Ib
@nl
prefLabel
A new deletion ablating NESP55 ...... eudohypoparathyroidism type Ib
@ast
A new deletion ablating NESP55 ...... eudohypoparathyroidism type Ib
@en
A new deletion ablating NESP55 ...... eudohypoparathyroidism type Ib
@en-gb
A new deletion ablating NESP55 ...... eudohypoparathyroidism type Ib
@nl
P2093
P356
P1476
A new deletion ablating NESP55 ...... eudohypoparathyroidism type Ib
@en
P2093
Genevieve Abeguilé
Hervé Mittre
Joris Andrieux
Marie-Laure Kottler
Nadia Coudray
Nicolas Gruchy
Nicolas Richard
Pascal Cathebras
P304
P356
10.1210/JC.2011-2804
P407
P577
2012-05-01T00:00:00Z