Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations.
about
Pseudohypoparathyroidism: one gene, several syndromes.Mutations in pseudohypoparathyroidism 1a and pseudopseudohypoparathyroidism in ethnic Chinese.A positive genotype-phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS geneResting Energy Expenditure Is Decreased in Pseudohypoparathyroidism Type 1A.Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption.GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.Pseudohypoparathyroidism Type 1A-Subclinical Hypothyroidism and Rapid Weight Gain as Early Clinical Signs: A Clinical Review of 10 Cases.Screening of PRKAR1A and PDE4D in a Large Italian Series of Patients Clinically Diagnosed With Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism.Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues.Clinical and genetic characteristics of Pseudohypoparathyroidism in the Chinese population.Mosaicism for GNAS methylation defects associated with pseudohypoparathyroidism type 1B arose in early post-zygotic phases.Case report: An infantile lethal form of Albright hereditary osteodystrophy due to a mutation
P2860
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P2860
Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年学术文章
@wuu
2013年学术文章
@zh
2013年学术文章
@zh-cn
2013年学术文章
@zh-hans
2013年学术文章
@zh-my
2013年学术文章
@zh-sg
2013年學術文章
@yue
2013年學術文章
@zh-hant
name
Pseudohypoparathyroidism type ...... f GNAS inactivating mutations.
@en
Pseudohypoparathyroidism type ...... f GNAS inactivating mutations.
@nl
type
label
Pseudohypoparathyroidism type ...... f GNAS inactivating mutations.
@en
Pseudohypoparathyroidism type ...... f GNAS inactivating mutations.
@nl
prefLabel
Pseudohypoparathyroidism type ...... f GNAS inactivating mutations.
@en
Pseudohypoparathyroidism type ...... f GNAS inactivating mutations.
@nl
P2093
P2860
P356
P1433
P1476
Pseudohypoparathyroidism type ...... f GNAS inactivating mutations.
@en
P2093
Anna Maria Barbieri
Anna Spada
Barbara Ceoloni
Francesca Marta Elli
Giovanna Mantovani
Luisa deSanctis
Paolo Bordogna
P2860
P304
P356
10.1002/HUMU.22265
P577
2013-01-18T00:00:00Z