Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization.
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Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted lociSilver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular EtiologyEMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.Parent-of-origin tumourigenesis is mediated by an essential imprinted modifier in SDHD-linked paragangliomas: SLC22A18 and CDKN1C are candidate tumour modifiers.Clinical evaluation of integrated panel testing by next-generation sequencing for somatic mutations in neuroblastomas with MYCN unamplification.Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.p57(Kip2) knock-in mouse reveals CDK-independent contribution in the development of Beckwith-Wiedemann syndrome.Genetic and Epigenetic Control of CDKN1C Expression: Importance in Cell Commitment and Differentiation, Tissue Homeostasis and Human Diseases.
P2860
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P2860
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization.
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2015 nî lūn-bûn
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2015年の論文
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年學術文章
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2015年學術文章
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name
Mutations of the Imprinted CDK ...... d Functional Characterization.
@en
type
label
Mutations of the Imprinted CDK ...... d Functional Characterization.
@en
prefLabel
Mutations of the Imprinted CDK ...... d Functional Characterization.
@en
P2093
P2860
P50
P356
P1433
P1476
Mutations of the Imprinted CDK ...... d Functional Characterization.
@en
P2093
Berenice Doray
Bertrand Isidor
Bruno Leheup
Claire Calmel
Clarisse Baumann
Fabienne Giuliano
Fanny Laffargue
Francoise Praz
Géraldine Viot
Irène Netchine
P2860
P304
P356
10.1002/HUMU.22824
P577
2015-06-16T00:00:00Z