Mild Beckwith-Wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p.
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Identification of Genetic Alterations, as Causative Genetic Defects in Long QT Syndrome, Using Next Generation Sequencing Technology.A novel large deletion of the ICR1 region including H19 and putative enhancer elements(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome: a paradigm for genomic medicine.A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith-Wiedemann syndrome.Looking for CDKN1C enhancers.Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.Differential methylation of lncRNA KCNQ1OT1 promoter polymorphism was associated with symptomatic cardiac long QT.Genetic and Epigenetic Control of CDKN1C Expression: Importance in Cell Commitment and Differentiation, Tissue Homeostasis and Human Diseases.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.Epigenetics, fragile X syndrome and transcriptional therapy.
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Mild Beckwith-Wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 20 March 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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Mild Beckwith-Wiedemann and se ...... ng center 2 on chromosome 11p.
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Mild Beckwith-Wiedemann and se ...... ng center 2 on chromosome 11p.
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Mild Beckwith-Wiedemann and se ...... ng center 2 on chromosome 11p.
@en
Mild Beckwith-Wiedemann and se ...... ng center 2 on chromosome 11p.
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prefLabel
Mild Beckwith-Wiedemann and se ...... ng center 2 on chromosome 11p.
@en
Mild Beckwith-Wiedemann and se ...... ng center 2 on chromosome 11p.
@nl
P2093
P2860
P356
P1476
Mild Beckwith-Wiedemann and se ...... ng center 2 on chromosome 11p.
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P2093
Antonella Camporeale
Antonio Oliva
Daniela Orteschi
Fiorella Gurrieri
Fulvio Bellocci
Giovanni Neri
Marcella Zollino
Monica Coll Vidal
Ramon Brugada
Roberta Pietrobono
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P2888
P304
P356
10.1038/EJHG.2012.280
P577
2013-03-20T00:00:00Z
P5875
P6179
1005333209