Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism.

Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism.

Item
http://www.wikidata.org/entity/Q53938819
Cognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism: possible cerebral imprinting of GsalphaMethylation 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.Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction.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 geneBilateral simultaneous disc edema and cataract associated with albright hereditary osteodystrophy.Bone health in children with long-term idiopathic subclinical hypothyroidism.Resistance to growth hormone releasing hormone and gonadotropins in Albright's hereditary osteodystrophy.A novel polymorphism at the GNAS1 gene associated with low circulating calcium levels.GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.Non-autoimmune subclinical hypothyroidism due to a mutation in TSH receptor: report on two brothers.Clinical characterization and identification of two novel mutations of the GNAS gene in patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism.Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations.Chronic ulcers, calcification and calcified fibrous tumours: phenotypic manifestations of a congenital disorder of heterotopic ossification.Sporadic pseudohypoparathyroidism type-1b with asymptomatic hypocalcemia.A novel GNAS mutation in an infant boy with pseudohypoparathyroidism type Ia and normal serum calcium and phosphate levels
P2860

Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism.

Item
http://www.wikidata.org/entity/Q53938819
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年学术文章
@wuu
2003年学术文章
@zh-cn
2003年学术文章
@zh-hans
2003年学术文章
@zh-my
2003年学术文章
@zh-sg
2003年學術文章
@yue
2003年學術文章
@zh
2003年學術文章
@zh-hant
name
Molecular analysis of the GNAS ...... and pseudohypoparathyroidism.
@en
Molecular analysis of the GNAS ...... and pseudohypoparathyroidism.
@nl
type
label
Molecular analysis of the GNAS ...... and pseudohypoparathyroidism.
@en
Molecular analysis of the GNAS ...... and pseudohypoparathyroidism.
@nl
prefLabel
Molecular analysis of the GNAS ...... and pseudohypoparathyroidism.
@en
Molecular analysis of the GNAS ...... and pseudohypoparathyroidism.
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P6179
P698
P356
P1433
P1476
Molecular analysis of the GNAS ...... y and pseudohypoparathyroidism
@en
P2093
P2860
P2888
P304
P31
P356
10.1203/01.PDR.0000059752.07086.A2
P407
P433
P478
P50
P577
P5875
P6179
P698