Molecular mechanism of angelman syndrome in two large families involves an imprinting mutation
about
The imprinting mechanism of the Prader-Willi/Angelman regional control center.A new pathway in the control of the initiation of puberty: the MKRN3 geneRecent assembly of an imprinted domain from non-imprinted components.Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint regionGenetics of Angelman syndrome.Imprinted genes as potential genetic and epigenetic toxicologic targetsDisruption of the bipartite imprinting center in a family with Angelman syndromeTranscription is required to establish maternal imprinting at the Prader-Willi syndrome and Angelman syndrome locus.A 28-kb deletion spanning D15S63 (PW71) in five families: a rare neutral variant?An unexpected function of the Prader-Willi syndrome imprinting center in maternal imprinting in miceDNA methylation in genomic imprinting, development, and disease.Imprinting-mutation mechanisms in Prader-Willi syndromeAltered serotonin, dopamine and norepinepherine levels in 15q duplication and Angelman syndrome mouse modelsEstablishment of the primary imprint of the HYMAI/PLAGL1 imprint control region during oogenesis.Regulation of imprinting: A multi-tiered process.Distinct phenotypes distinguish the molecular classes of Angelman syndromeA transgene insertion creating a heritable chromosome deletion mouse model of Prader-Willi and angelman syndromesSynaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities.Molecular and Clinical Aspects of Angelman Syndrome.How imprinting centres work.Modes of imprinted gene action in learning disability.Conserved characteristics of heterochromatin-forming DNA at the 15q11-q13 imprinting center.Protein-binding elements establish in the oocyte the primary imprint of the Prader-Willi/Angelman syndromes domain.Epilepsy in Prader-Willi syndrome: clinical, diagnostic and treatment aspects.The mouse Snrpn minimal promoter and its human orthologue: activity and imprinting.Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects.Paternal UPD15: further genetic and clinical studies in four Angelman syndrome patients.Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect.16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort.
P2860
Q24539032-1453447C-B6DD-45B0-B713-5697882D43C7Q26861068-BF7E62FA-8E13-448A-9537-2F3662BA8DB3Q33261813-F80D7320-66A6-44D6-B16D-225B1E21421CQ33316874-E675CF37-9A4B-4F81-8D60-9828D05CB2CEQ33655104-9AF45725-AFC0-432E-A0D5-AD924DC3B438Q33852775-15C3E854-CA0E-4B6B-AD3C-C9DD9C3FFA0FQ34020745-465FFFB1-66BB-4B39-9E8B-9DEA06818A7EQ34126322-7BD87294-9A6F-430A-A5A7-2741AD5B5638Q34146308-811F9244-0E7F-415C-986B-A6CA33775CE6Q34230048-6091CA81-337C-489C-B621-23BD59B6E5D1Q34378421-BB6FD4B1-2D9F-47F6-8C41-5A4085742F35Q34388796-8609F757-EF23-40CC-B2AB-02BE6C2EBEE5Q34391238-3F38E41B-BECD-447C-8A5D-89FB4F18903DQ34507201-03138642-002D-4B0F-A4F7-512AA758C3BCQ35042232-58F9FEEF-FCAD-433C-8AA9-3FBCD83A28C8Q35436435-D18D4406-49B0-4EA6-A55D-D6B7E5CF2E4FQ35601037-BB74D3F6-55FD-4772-B913-A9C6FCCEB0A4Q35765423-BF3C40D9-98BB-4FC4-96AC-692C99D44FEFQ36006585-9DD0840E-E623-4C22-9A31-562AE014A647Q36436525-FD1131F1-44D3-4079-B58F-CBED29DFC38AQ36455952-9FEF773D-E738-4747-A250-9D1AF7BBBC0DQ36745813-DA16FBE0-28F5-4AE7-B412-BD577A0E0E81Q37238842-DC1AF702-78CF-41AF-8EAE-A0BDAFEED41AQ38209741-98DC6918-5EB9-4E4B-AF6A-C0B880923069Q40765263-525DDB19-F686-4EE4-9114-2CBFCDDA0AC8Q41920951-C1E500BD-FF7C-494E-BD16-41447294C768Q41924626-B3635542-4593-44EC-AF98-F29682BD32BDQ42008490-964CB9A3-1237-4E68-86FE-B13B192B1455Q42156745-D5018BF6-76EA-44F9-93C1-8634B24348C2Q54060427-897A5E22-0A36-4A01-A0AC-C26511B2DFDB
P2860
Molecular mechanism of angelman syndrome in two large families involves an imprinting mutation
description
1999 nî lūn-bûn
@nan
1999 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի փետրվարին 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
Molecular mechanism of angelma ...... nvolves an imprinting mutation
@ast
Molecular mechanism of angelma ...... nvolves an imprinting mutation
@en
Molecular mechanism of angelma ...... nvolves an imprinting mutation
@nl
type
label
Molecular mechanism of angelma ...... nvolves an imprinting mutation
@ast
Molecular mechanism of angelma ...... nvolves an imprinting mutation
@en
Molecular mechanism of angelma ...... nvolves an imprinting mutation
@nl
prefLabel
Molecular mechanism of angelma ...... nvolves an imprinting mutation
@ast
Molecular mechanism of angelma ...... nvolves an imprinting mutation
@en
Molecular mechanism of angelma ...... nvolves an imprinting mutation
@nl
P2093
P2860
P356
P1476
Molecular mechanism of angelma ...... nvolves an imprinting mutation
@en
P2093
Cassidy SB
Driscoll DJ
Horsthemke B
Kokkonen H
McCandless S
Nicholls RD
P2860
P304
P356
10.1086/302232
P407
P577
1999-02-01T00:00:00Z