Molecular findings in Beckwith-Wiedemann syndrome (Q38099605)

28 August 2017

Molecular findings in Beckwith-Wiedemann syndrome (English)

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28 August 2017

Sanaa Choufani

1

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28 August 2017

Cheryl Shuman

series ordinal

2

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28 August 2017

Rosanna Weksberg

series ordinal

3

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28 August 2017

16 April 2013

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American Journal of Medical Genetics Part C: Seminars in Medical Genetics

28 August 2017

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28 August 2017

163C

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28 August 2017

2

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28 August 2017

131-140

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Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome

28 August 2017

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https://api.crossref.org/works/10.1002%2FAJMG.C.31363

A novel H19 antisense RNA overexpressed in breast cancer contributes to paternal IGF2 expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

The imprinted H19 noncoding RNA is a primary microRNA precursor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Oppositely imprinted genes p57(Kip2) and igf2 interact in a mouse model for Beckwith-Wiedemann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

The 5' end of the KCNQ1OT1 gene is hypomethylated in the Beckwith-Wiedemann syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Association between Beckwith-Wiedemann syndrome and assisted reproductive technology: a case series of 19 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Deletion of a silencer element in Igf2 results in loss of imprinting independent of H19.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

A novel microdeletion in the IGF2/H19 imprinting centre region defines a recurrent mutation mechanism in familial Beckwith-Wiedemann syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Risk of cancer during the first four years of life in children from The Beckwith-Wiedemann Syndrome Registry

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Beckwith-Wiedemann syndrome: multiple molecular mechanisms

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Assisted Reproductive Technology affects developmental kinetics, H19 Imprinting Control Region methylation and H19 gene expression in individual mouse embryos

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Regional loss of imprinting and growth deficiency in mice with a targeted deletion of KvDMR1

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Brain abnormalities in patients with Beckwith-Wiedemann syndrome.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.C.31363

In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCN1OT gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Rare congenital disorders, imprinted genes, and assisted reproductive technology

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Altered gene expression and methylation of the human chromosome 11 imprinted region in small for gestational age (SGA) placentae.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Beckwith-Wiedemann syndrome and IVF: a case-control study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

New p57KIP2 mutations in Beckwith-Wiedemann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

A dyad oct-binding sequence functions as a maintenance sequence for the unmethylated state within the H19/Igf2-imprinted control region

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

The H19 lincRNA is a developmental reservoir of miR-675 that suppresses growth and Igf1r

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Conserved, developmentally regulated mechanism couples chromosomal looping and heterochromatin barrier activity at the homeobox gene A locus

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Manifestation of alveolar rhabdomyosarcoma as primary cutaneous lesions in a neonate with Beckwith-Wiedemann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Risk of tumorigenesis in overgrowth syndromes: A comprehensive review

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Cloning of p57KIP2, a cyclin-dependent kinase inhibitor with unique domain structure and tissue distribution

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Two novel genes in the center of the 11p15 imprinted domain escape genomic imprinting

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Disruption of imprinting caused by deletion of the H19 gene region in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Imprinting on distal chromosome 7 in the placenta involves repressive histone methylation independent of DNA methylation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

A maternal-zygotic effect gene, Zfp57, maintains both maternal and paternal imprints

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Mouse mutants lacking the type 2 IGF receptor (IGF2R) are rescued from perinatal lethality in Igf2 and Igf1r null backgrounds.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Igf2-derived intronic miR-483 promotes mouse hepatocellular carcinoma cell proliferation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Beckwith-Wiedemann syndrome: imprinting in clusters revisited

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Beckwith-Wiedemann syndrome and assisted reproduction technology (ART)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

A differentially methylated region within the gene Kcnq1 functions as an imprinted promoter and silencer.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Dual effects of superovulation: loss of maternal and paternal imprinted methylation in a dose-dependent manner.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

p57KIP2, a structurally distinct member of the p21CIP1 Cdk inhibitor family, is a candidate tumor suppressor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Kcnq1ot1/Lit1 noncoding RNA mediates transcriptional silencing by targeting to the perinucleolar region

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Cohesin is required for higher-order chromatin conformation at the imprinted IGF2-H19 locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Beckwith-Wiedemann syndrome in sibs discordant for IC2 methylation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

A nucleolar protein, H19 opposite tumor suppressor (HOTS), is a tumor growth inhibitor encoded by a human imprinted H19 antisense transcript.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Kcnq1ot1 antisense noncoding RNA mediates lineage-specific transcriptional silencing through chromatin-level regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Epigenetic and genetic variation at the IGF2/H19 imprinting control region on 11p15.5 is associated with cerebellum weight

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

The long noncoding RNA Kcnq1ot1 organises a lineage-specific nuclear domain for epigenetic gene silencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Tumor risk in Beckwith-Wiedemann syndrome: A review and meta-analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Aberrant DNA methylation of imprinted loci in superovulated oocytes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Genomic imprinting and cancer; new paradigms in the genetics of neoplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Two distinct mechanisms of silencing by the KvDMR1 imprinting control region

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

New chromosome 11p15 epigenotypes identified in male monozygotic twins with Beckwith-Wiedemann syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Maternal gametic transmission of translocations or inversions of human chromosome 11p15.5 results in regional DNA hypermethylation and downregulation of CDKN1C expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

IGF2 DNA methylation is a modulator of newborn's fetal growth and development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Transactivation of Igf2 in a mouse model of Beckwith-Wiedemann syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Tumour surveillance in Beckwith-Wiedemann syndrome and hemihyperplasia: a critical review of the evidence and suggested guidelines for local practice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

H19 antisense RNA can up-regulate Igf2 transcription by activation of a novel promoter in mouse myoblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Expression of p57(KIP2) potently blocks the growth of human astrocytomas and induces cell senescence

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Epigenetic gene silencing in cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Imprinting along the Kcnq1 domain on mouse chromosome 7 involves repressive histone methylation and recruitment of Polycomb group complexes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Abnormality of chromosome 11 in patients with features of Beckwith-Wiedemann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Location of enhancers is essential for the imprinting of H19 and Igf2 genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Aberrant DNA methylation of imprinted loci in sperm from oligospermic patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome Phenotypes Associated with 11p Duplication in a Single Family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Epimutation of the TNDM locus and the Beckwith–Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

Tumour-suppressor activity of H19 RNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31363

21 January 2018

Identifiers

DOI

10.1002/AJMG.C.31363

1 reference

release_y7g65umosbbvrgt5ku22neokvm

28 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/y7g65umosbbvrgt5ku22neokvm

mapped directly with Wikidata item

24 November 2022

based on heuristic

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