Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues. - Wikidata - wikimedia - TriplyDB

Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues.

Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues.

http://www.wikidata.org/entity/Q38816341

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The Epidemiology of Hypoparathyroidism in Italy: An 8-Year Register-Based Study.GNAS mutations and heterotopic ossification.Classic and Non-Classic Features in Pseudohypoparathyroidism: Case Study and Brief Literature Review.Mosaicism for GNAS methylation defects associated with pseudohypoparathyroidism type 1B arose in early post-zygotic phases.Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation.Pseudohypoparathyroidism type 1B associated with assisted reproductive technology.Pseudohypoparathyroidism type 1B in a patient conceived by in vitro fertilization: another imprinting disorder reported with assisted reproductive technology.Constitutive stimulatory G protein activity in limb mesenchyme impairs bone growth.Genetic and epigenetic defects at the GNAS locus lead to distinct patterns of skeletal growth but similar early-onset obesity.(Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type I.

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Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues.

http://www.wikidata.org/entity/Q38816341

description

2016 nî lūn-bûn

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2016年の論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年论文

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2016年论文

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2016年论文

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name

Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues.

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type

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Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues.

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Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues.

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Nature Reviews Endocrinology

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Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues

@en

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Anna Spada

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Giovanna Mantovani

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

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

Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification

Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes

Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance

Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis

Albright's hereditary osteodystrophy: a review

Parathyroid hormone - a bone anabolic and catabolic agent

Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity

Progressive osseous heteroplasia: a model for the imprinting effects of GNAS inactivating mutations in humans

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347-356

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scholarly article

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10.1038/NRENDO.2016.52

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6

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12

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Francesca M Elli

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2016-04-22T00:00:00Z

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27109785

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