Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy.
about
Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossificationNext generation sequencing in endocrine practiceSinus pauses and high-grade atrioventricular block in Albright's hereditary osteodystrophy with pseudopseudohypoparathyroidismIdentification of cancer-associated gene clusters and genes via clustering penalization.Deletion and point mutations of PTHLH cause brachydactyly type E.Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunctionLong-term follow-up of a pseudohypoparathyroidism type 1A patient with missense mutation (Pro115Ser) in exon 5.A mouse model for osseous heteroplasiaFunctional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction.Progressive osseous heteroplasia: diagnosis, treatment, and prognosisA 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 geneA Novel T55A Variant of Gs α Associated with Impaired cAMP Production, Bone Fragility, and Osteolysis.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.Two cases of pseudohypoparathyroidism type ia in duozygotic twins with different phenotypes.Genetics of Short Stature.A novel mutation causing pseudohypoparathyroidism 1A with congenital hypothyroidism and osteoma cutis.Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations.Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism.Case report: An infantile lethal form of Albright hereditary osteodystrophy due to a mutation
P2860
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P2860
Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy.
description
2001 nî lūn-bûn
@nan
2001年の論文
@ja
2001年学术文章
@wuu
2001年学术文章
@zh-cn
2001年学术文章
@zh-hans
2001年学术文章
@zh-my
2001年学术文章
@zh-sg
2001年學術文章
@yue
2001年學術文章
@zh
2001年學術文章
@zh-hant
name
Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy.
@en
Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy.
@nl
type
label
Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy.
@en
Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy.
@nl
prefLabel
Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy.
@en
Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy.
@nl
P2093
P356
P1476
Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy.
@en
P2093
P304
P356
10.1210/JC.86.10.4630
P407
P577
2001-10-01T00:00:00Z