Growth hormone-releasing hormone resistance in pseudohypoparathyroidism type ia: new evidence for imprinting of the Gs alpha gene.
about
GNAS locus and pseudohypoparathyroidismIncreased prevalence of carpal tunnel syndrome in albright hereditary osteodystrophyHeterotopic ossifications in a mouse model of albright hereditary osteodystrophyAssociation of maternally inherited GNAS alleles with African-American male birth weightMethylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunctionPseudohypoparathyroidism: one gene, several syndromes.Imprinting status of Galpha(s), NESP55, and XLalphas in cell cultures derived from human embryonic germ cells: GNAS imprinting in human embryonic germ cellsSclerochoroidal calcification associated with Albright's hereditary osteodystrophyMultihormonal resistance to parathyroid hormone, thyroid stimulating hormone, and other hormonal and neurosensory stimuli in patients with pseudohypoparathyroidism.Resistance to growth hormone releasing hormone and gonadotropins in Albright's hereditary osteodystrophy.Hypoparathyroidism and pseudohypoparathyroidism.Mechanisms of disease: Mutations of G proteins and G-protein-coupled receptors in endocrine diseases.Pseudohypoparathyroidism: a rare but important cause of hypocalcaemia.Energy expenditure in obese children with pseudohypoparathyroidism type 1aAnalysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS DeletionPseudohypoparathyroidism type Ia manifesting as intractable epilepsy in a 23-year-old female.The GNAS Locus: Quintessential Complex Gene Encoding Gsalpha, XLalphas, and other Imprinted TranscriptsReduced insulin sensitivity in adults with pseudohypoparathyroidism type 1a.Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption.Parathyroid hormone signaling via Gαs is selectively inhibited by an NH(2)-terminally truncated Gαs: implications for pseudohypoparathyroidism.Pleiotropic genetic syndromes with developmental abnormalities associated with obesity.Follow-up Findings in a Turkish Girl with Pseudohypoparathyroidism Type Ia Caused by a Novel Heterozygous Mutation in the GNAS Gene.Characteristic Height Growth Pattern in Patients with Pseudohypoparathyroidism: Comparison between Type 1a and Type 1b.Growth hormone treatment in adults with growth hormone deficiency: the transition.Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues.Pseudohypoparathyroidism, an often delayed diagnosis: a case series.Current Nomenclature of Pseudohypoparathyroidism: Inactivating Parathyroid Hormone/Parathyroid Hormone-Related Protein Signaling Disorder.Clinical and genetic characteristics of Pseudohypoparathyroidism in the Chinese population.A novel deletion involving GNAS exon 1 causes PHP1A and further refines the region required for normal methylation at exon A/B.Early-Onset Obesity: Unrecognized First Evidence for GNAS Mutations and Methylation Changes.Progressive osseous heteroplasia, as an isolated entity or overlapping with Albright hereditary osteodystrophy.Genetic and epigenetic defects at the GNAS locus lead to distinct patterns of skeletal growth but similar early-onset obesity.
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Growth hormone-releasing hormone resistance in pseudohypoparathyroidism type ia: new evidence for imprinting of the Gs alpha gene.
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
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-hant
name
Growth hormone-releasing hormo ...... printing of the Gs alpha gene.
@en
Growth hormone-releasing hormo ...... printing of the Gs alpha gene.
@nl
type
label
Growth hormone-releasing hormo ...... printing of the Gs alpha gene.
@en
Growth hormone-releasing hormo ...... printing of the Gs alpha gene.
@nl
prefLabel
Growth hormone-releasing hormo ...... printing of the Gs alpha gene.
@en
Growth hormone-releasing hormo ...... printing of the Gs alpha gene.
@nl
P2093
P50
P356
P1476
Growth hormone-releasing hormo ...... mprinting of the Gs alpha gene
@en
P2093
Anna Spada
Ernesto De Menis
Mohamad Maghnie
Paola Loli
Paolo Beck-Peccoz
Valeria Brunelli
P304
P356
10.1210/JC.2002-022028
P407
P577
2003-09-01T00:00:00Z