An update on the clinical and molecular characteristics of pseudohypoparathyroidism.
about
From variome to phenome: Pathogenesis, diagnosis and management of ectopic mineralization disordersEpidemiology and Diagnosis of Hypoparathyroidism.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 geneScreening for hormonal, monogenic, and syndromic disorders in obese infants and children.Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (sporPHP1B)Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects.Ablation of the Stimulatory G Protein α-Subunit in Renal Proximal Tubules Leads to Parathyroid Hormone-Resistance With Increased Renal Cyp24a1 mRNA Abundance and Reduced Serum 1,25-Dihydroxyvitamin D.Apparent Recurrence of Hyperparathyroidism following Quadruple ParathyroidectomyFollow-up Findings in a Turkish Girl with Pseudohypoparathyroidism Type Ia Caused by a Novel Heterozygous Mutation in the GNAS Gene.Inherited disorders of calcium and phosphate metabolism.Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues.Methylation and transcripts expression at the imprinted GNAS locus in human embryonic and induced pluripotent stem cells and their derivatives.Neuropsychiatric phenotype in a child with pseudohypoparathyroidism.Clinical and genetic characteristics of Pseudohypoparathyroidism in the Chinese population.Pseudohypoparathyroidism type 1B associated with assisted reproductive technology.[Monogenic and syndromic symptoms of morbid obesity. Rare but important].Mosaic paternal genome-wide uniparental isodisomy with down syndrome.
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An update on the clinical and molecular characteristics of pseudohypoparathyroidism.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
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
2012年论文
@zh
2012年论文
@zh-cn
name
An update on the clinical and molecular characteristics of pseudohypoparathyroidism.
@en
type
label
An update on the clinical and molecular characteristics of pseudohypoparathyroidism.
@en
prefLabel
An update on the clinical and molecular characteristics of pseudohypoparathyroidism.
@en
P2860
P1476
An update on the clinical and molecular characteristics of pseudohypoparathyroidism
@en
P2093
Michael A Levine
P2860
P304
P356
10.1097/MED.0B013E32835A255C
P577
2012-12-01T00:00:00Z