GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.
about
Epidemiology and Diagnosis of Hypoparathyroidism.Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity.Pseudohypoparathyroidism: one gene, several syndromes.Progressive osseous heteroplasia: diagnosis, treatment, and prognosisResting Energy Expenditure Is Decreased in Pseudohypoparathyroidism Type 1A.Epidemiology and Health-Related Quality of Life in Hypoparathyroidism in NorwayA Novel T55A Variant of Gs α Associated with Impaired cAMP Production, Bone Fragility, and Osteolysis.Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues.Genetics of Short Stature.Pseudohypoparathyroidism type 1a due to a novel mutation in the GNAS gene.Ossifications in Albright Hereditary Osteodystrophy: Role of Genotype, Inheritance, Sex, Age, Hormonal Status, and BMI.Clinical and genetic characteristics of Pseudohypoparathyroidism in the Chinese population.The GNASR201C mutation associated with clonal hematopoiesis supports transplantable hematopoietic stem cell activity.A novel deletion involving GNAS exon 1 causes PHP1A and further refines the region required for normal methylation at exon A/B.Hypoparathyroidism.Disease-Causing Mutations in the G Protein Gαs Subvert the Roles of GDP and GTP.Constitutive stimulatory G protein activity in limb mesenchyme impairs bone growth.Cognitive and behavioral phenotype of children with pseudohypoparathyroidism type 1A.(Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type I.Identification of a Novel Mutation in a Family with Pseudohypoparathyroidism Type 1a.Case report: An infantile lethal form of Albright hereditary osteodystrophy due to a mutation
P2860
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P2860
GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
2014年论文
@zh
2014年论文
@zh-cn
name
GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.
@en
type
label
GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.
@en
prefLabel
GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.
@en
P2860
P921
P356
P1433
P1476
GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.
@en
P2860
P356
10.1002/HUMU.22696
P5008
P577
2014-11-28T00:00:00Z
2015-01-01T00:00:00Z