A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect.
about
Angelman syndrome: a review of the clinical and genetic aspectsPractice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes.Disruption of the bipartite imprinting center in a family with Angelman syndromeAn aminophospholipid translocase associated with body fat and type 2 diabetes phenotypes.The human obesity gene map: the 2000 update.The human obesity gene map: the 2001 update.An atypical case of hypomethylation at multiple imprinted loci.The human obesity gene map: the 2002 update.Distinct phenotypes distinguish the molecular classes of Angelman syndromePatients with mosaic methylation patterns of the Prader-Willi/Angelman Syndrome critical region exhibit AS-like phenotypes with some PWS featuresThe human imprintome: regulatory mechanisms, methods of ascertainment, and roles in disease susceptibilityEvidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndrome.E3 ubiquitin ligase E6AP negatively regulates adipogenesis by downregulating proadipogenic factor C/EBPalpha.Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect.Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon?Genetic engineering cures mice of neurological deficits: prospects for treating Angelman syndrome.A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect.Mild Angelman syndrome phenotype due to a mosaic methylation imprinting defect.Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature.Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndrome.The Human Obesity Gene Map: The 2004 Update
P2860
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P2860
A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect.
description
1999 nî lūn-bûn
@nan
1999 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
A previously unrecognised phen ...... aused by an imprinting defect.
@ast
A previously unrecognised phen ...... aused by an imprinting defect.
@en
type
label
A previously unrecognised phen ...... aused by an imprinting defect.
@ast
A previously unrecognised phen ...... aused by an imprinting defect.
@en
prefLabel
A previously unrecognised phen ...... aused by an imprinting defect.
@ast
A previously unrecognised phen ...... aused by an imprinting defect.
@en
P2093
P356
P1476
A previously unrecognised phen ...... aused by an imprinting defect.
@en
P2093
Gillessen-Kaesbach G
Horsthemke B
P2888
P304
P356
10.1038/SJ.EJHG.5200362
P577
1999-09-01T00:00:00Z