相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement
Frederic Brioude et al.
NATURE REVIEWS ENDOCRINOLOGY (2018)
Blocked transcription through KvDMR1 results in absence of methylation and gene silencing resembling Beckwith-Wiedemann syndrome
Vir B. Singh et al.
DEVELOPMENT (2017)
A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith-Wiedemann syndrome
Jasmin Beygo et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2016)
Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care
Thomas Eggermann et al.
CLINICAL EPIGENETICS (2015)
Angelman syndrome imprinting center encodes a transcriptional promoter
Michael W. Lewis et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)
Clinical utility gene card for: Beckwith-Wiedemann Syndrome
Thomas Eggermann et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2014)
High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome
Berivan Baskin et al.
HUMAN GENETICS (2014)
Molecular Findings in BeckwithWiedemann Syndrome
Sanaa Choufani et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2013)
Beckwith-Wiedemann syndrome and long QT syndrome due to familial-balanced translocation t(11;17)(p15.5;q21.3) involving the KCNQ1 gene
S. Kaltenbach et al.
CLINICAL GENETICS (2013)
Mild Beckwith-Wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p
Fiorella Gurrieri et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2013)
Maternal gametic transmission of translocations or inversions of human chromosome 11p15.5 results in regional DNA hypermethylation and downregulation of CDKN1C expression
Adam C. Smith et al.
GENOMICS (2012)
Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature
Matthias Begemann et al.
JOURNAL OF MEDICAL GENETICS (2012)
New Insights into the Pathogenesis of Beckwith-Wiedemann and Silver-Russell Syndromes: Contribution of Small Copy Number Variations to 11p15 Imprinting Defects
Julie Demars et al.
HUMAN MUTATION (2011)
Transcription Is Required to Establish Maternal Imprinting at the Prader-Willi Syndrome and Angelman Syndrome Locus
Emily Y. Smith et al.
PLOS GENETICS (2011)
Beckwith-Wiedemann syndrome
Rosanna Weksberg et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2010)
Transcription is required for establishment of germline methylation marks at imprinted genes
Mita Chotalia et al.
GENES & DEVELOPMENT (2009)
Distant cis-elements regulate imprinted expression of the mouse p57KiP2 (Cdkn1C) gene:: implications for the human disorder, Beckwith-Wiedemann syndrome
RM John et al.
HUMAN MOLECULAR GENETICS (2001)
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