Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions.
about
Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular EtiologyThe KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome casesCdkn1c Boosts the Development of Brown Adipose Tissue in a Murine Model of Silver Russell Syndrome.Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature.Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes.Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes.Adrenocortical growth and cancer.Familial 1.3-Mb 11p15.5p15.4 Duplication in Three Generations Causing Silver-Russell and Beckwith-Wiedemann Syndromes.De novo paternal origin duplication of chromosome 11p15.5: report of two Chinese cases with Beckwith-Wiedemann syndrome.Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.Germline correction of an epimutation related to Silver-Russell syndrome.New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects.Genomic imbalance in the centromeric 11p15 imprinting center in three families: Further evidence of a role for IC2 as a cause of Russell-Silver syndrome.A cryptic familial rearrangement of 11p15.5, involving both imprinting centers, in a family with a history of short stature.Jacobsen and Beckwith-Wiedemann syndromes in a child with mosaicism for partial 11pter trisomy and partial 11qter monosomy.Silver-Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1C.High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome.Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome.Chromosomal rearrangements in patients with clinical features of Silver-Russell syndrome.A novel familial 11p15.4 microduplication associated with intellectual disability, dysmorphic features, and obesity with involvement of the ZNF214 geneSilver-Russell Syndrome and Beckwith-Wiedemann Syndrome Phenotypes Associated with 11p Duplication in a Single Family
P2860
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P2860
Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions.
description
2009 nî lūn-bûn
@nan
2009年の論文
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2009年学术文章
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2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
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2009年學術文章
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2009年學術文章
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name
Phenotypic discordance upon pa ...... f the 11p15 imprinted regions.
@en
Phenotypic discordance upon pa ...... f the 11p15 imprinted regions.
@nl
type
label
Phenotypic discordance upon pa ...... f the 11p15 imprinted regions.
@en
Phenotypic discordance upon pa ...... f the 11p15 imprinted regions.
@nl
prefLabel
Phenotypic discordance upon pa ...... f the 11p15 imprinted regions.
@en
Phenotypic discordance upon pa ...... f the 11p15 imprinted regions.
@nl
P2093
P1476
Phenotypic discordance upon pa ...... f the 11p15 imprinted regions.
@en
P2093
K van der Lip
M M A M Mannens
P304
P356
10.1016/J.EJMG.2009.08.006
P577
2009-09-06T00:00:00Z