Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophy.
about
The GNAS complex locus and human diseases associated with loss-of-function mutations or epimutations within this imprinted geneTransgenic overexpression of the extra-large Gsα variant XLαs enhances Gsα-mediated responses in the mouse renal proximal tubule in vivoA genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33Intragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: potential for misdiagnosis of pseudohypoparathyroidism type 1BAssociation 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 hypofunctionEvidence of hormone resistance in a pseudo-pseudohypoparathyroidism patient with a novel paternal mutation in GNAS.Structural Chromosome Abnormalities Associated with Obesity: Report of Four New subjects and Review of Literature.Pseudohypoparathyroidism type Ib associated with novel duplications in the GNAS locusClinically relevant known and candidate genes for obesity and their overlap with human infertility and reproduction.GNAS Spectrum of Disorders.The G protein α subunit variant XLαs promotes inositol 1,4,5-trisphosphate signaling and mediates the renal actions of parathyroid hormone in vivo.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.Physiological dysfunctions associated with mutations of the imprinted Gnas locus.The consequences of uniparental disomy and copy number neutral loss-of-heterozygosity during human development and cancer.Human imprinting syndromes.Heterotrimeric G proteins in the control of parathyroid hormone actions.GNAS mutations and heterotopic ossification.A novel de novo 20q13.32-q13.33 deletion in a 2-year-old child with poor growth, feeding difficulties and low bone mass.
P2860
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P2860
Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophy.
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年学术文章
@wuu
2002年学术文章
@zh
2002年学术文章
@zh-cn
2002年学术文章
@zh-hans
2002年学术文章
@zh-my
2002年学术文章
@zh-sg
2002年學術文章
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2002年學術文章
@zh-hant
name
Constitutional deletion of chr ...... ght hereditary osteodystrophy.
@en
Constitutional deletion of chr ...... ght hereditary osteodystrophy.
@nl
type
label
Constitutional deletion of chr ...... ght hereditary osteodystrophy.
@en
Constitutional deletion of chr ...... ght hereditary osteodystrophy.
@nl
prefLabel
Constitutional deletion of chr ...... ght hereditary osteodystrophy.
@en
Constitutional deletion of chr ...... ght hereditary osteodystrophy.
@nl
P2093
P2860
P356
P1476
Constitutional deletion of chr ...... ght hereditary osteodystrophy.
@en
P2093
Christine Hall
Katie S Waters
Louise Brueton
Micheala A Aldred
Salim Aftimos
P2860
P304
P356
10.1002/AJMG.10751
P577
2002-11-01T00:00:00Z