High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome.
about
Differential diagnoses of overgrowth syndromes: the most important clinical and radiological disease manifestationsA novel large deletion of the ICR1 region including H19 and putative enhancer elementsThe Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome.A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromesTwo maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes.FANCJ is essential to maintain microsatellite structure genome-wide during replication stress.An Update on Molecular Diagnostic Testing of Human Imprinting Disorders.Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization.Cystic fibrosis and beckwith-wiedemann syndrome: a case report.A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith-Wiedemann syndrome.In Pursuit of New Imprinting Syndromes by Epimutation Screening in Idiopathic Neurodevelopmental Disorder PatientsDe novo paternal origin duplication of chromosome 11p15.5: report of two Chinese cases with Beckwith-Wiedemann syndrome.Novel deletion in 11p15.5 imprinting center region 1 in a patient with Beckwith-Wiedemann syndrome provides insight into distal enhancer regulation and tumorigenesis.Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.Paternal duplication of the 11p15 centromeric imprinting control region is associated with increased expression of CDKN1C in a child with Russell-Silver syndrome.
P2860
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P2860
High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年学术文章
@wuu
2013年学术文章
@zh-cn
2013年学术文章
@zh-hans
2013年学术文章
@zh-my
2013年学术文章
@zh-sg
2013年學術文章
@yue
2013年學術文章
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2013年學術文章
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name
High frequency of copy number ...... h Beckwith-Wiedemann syndrome.
@en
High frequency of copy number variations
@nl
type
label
High frequency of copy number ...... h Beckwith-Wiedemann syndrome.
@en
High frequency of copy number variations
@nl
prefLabel
High frequency of copy number ...... h Beckwith-Wiedemann syndrome.
@en
High frequency of copy number variations
@nl
P2093
P2860
P1433
P1476
High frequency of copy number ...... h Beckwith-Wiedemann syndrome.
@en
P2093
A Micheil Innes
Berivan Baskin
Cheryl Shuman
Dimitri J Stavropoulos
Emmanuelle Lemyre
Nicole Parkinson
Peter N Ray
Rosanna Weksberg
Sanaa Choufani
Yi-An Chen
P2860
P2888
P304
P356
10.1007/S00439-013-1379-Z
P577
2013-10-24T00:00:00Z