Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects
about
The GNAS complex locus and human diseases associated with loss-of-function mutations or epimutations within this imprinted geneGene Dosage Effects at the Imprinted Gnas ClusterA patient with features of albright hereditory osteodystrophy and unusual neuropsychiatric findings without coding Gsalpha mutationsPaternal uniparental isodisomy of the entire chromosome 20 as a molecular cause of pseudohypoparathyroidism type Ib (PHP-Ib)GNAS Spectrum of Disorders.Loss of XLαs (extra-large αs) imprinting results in early postnatal hypoglycemia and lethality in a mouse model of pseudohypoparathyroidism Ib.Prenatal diagnosis of complete maternal uniparental isodisomy of chromosome 4 in a fetus without congenital abnormality or inherited disease-associated variations.Clinical utility gene card for: pseudohypoparathyroidism.Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: evidence for an autosomal recessive form of PHP-Ib?Mediators and dynamics of DNA methylation.Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues.Clinical characterization and identification of two novel mutations of the GNAS gene in patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism.
P2860
Q26852157-C5571EF1-043B-4F1D-A00D-B1C6795137B9Q27316512-17BA6ED4-290A-4090-96BD-542C83B3711BQ33792419-6686E8F6-AF15-4169-8906-AA85BDC63798Q34574573-4771053E-518E-4489-B652-EB7AA36D9F75Q35563016-DD2DD357-7C01-4901-9611-A917CD194F56Q35921843-C0B699F4-CB90-48E0-B769-87CC0D10ED1CQ36246927-F76E977B-E31F-49D9-A0AE-75579248794DQ36856436-09FB72C6-4E70-48CE-BDBA-6B7DDBFE81ABQ37270662-BAF17649-825B-4640-AFDE-26DA939412E3Q37794100-747927C6-33FD-42FE-A4B7-9948379C7FDFQ38816341-421DFBB6-8B5F-4E2F-B310-491B7300CA43Q43488117-23668901-3F4D-4215-8B53-E972A2232A9D
P2860
Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects
description
2009 nî lūn-bûn
@nan
2009 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Coexistence of two different p ...... ns and GNAS imprinting defects
@ast
Coexistence of two different p ...... ns and GNAS imprinting defects
@en
Coexistence of two different pseudohypoparathyroidism subtypes
@nl
type
label
Coexistence of two different p ...... ns and GNAS imprinting defects
@ast
Coexistence of two different p ...... ns and GNAS imprinting defects
@en
Coexistence of two different pseudohypoparathyroidism subtypes
@nl
prefLabel
Coexistence of two different p ...... ns and GNAS imprinting defects
@ast
Coexistence of two different p ...... ns and GNAS imprinting defects
@en
Coexistence of two different pseudohypoparathyroidism subtypes
@nl
P2093
P2860
P356
P1476
Coexistence of two different p ...... ns and GNAS imprinting defects
@en
P2093
A Bernal-Chico
B Lecumberri
E Fernández-Rebollo
G Pérez de Nanclares
J M Jiménez Bustos
L F Pallardo
L Sentchordi
M de Santiago
P2860
P304
P356
10.1136/JMG.2009.071001
P407
P50
P577
2009-10-26T00:00:00Z