Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor. (Q43740895)

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15 January 2020

title

Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor (English)

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15 January 2020

22

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Eamonn R Maher

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Charles Stiller

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Kathryn Pritchard-Jones

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Pascal Pujol

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15 January 2020

author name string

Richard H Scott

1

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Jenny Douglas

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Linda Baskcomb

3

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Nikki Huxter

4

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Karen Barker

5

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Sandra Hanks

6

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Alan Craft

7

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Mary Gerrard

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Janice A Kohler

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Gill A Levitt

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Sue Picton

11

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Barry Pizer

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Milind D Ronghe

13

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Denise Williams

14

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Factors Associated with Childhood Tumours (FACT) Collaboration

15

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Jackie A Cook

16

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Jillian M Birch

19

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language of work or name

English

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publication date

5 October 2008

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15 January 2020

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volume

40

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issue

11

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15 January 2020

page(s)

1329-1334

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https://scigraph.springernature.com/pub.10.1038/ng.243

15 January 2020

exact match

0 references

cites work

Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome.

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7 January 2021

Beckwith-Wiedemann syndrome

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Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour

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Frequency and Heritability ofWT1Mutations in Nonsyndromic Wilms' Tumor Patients: A UK Children’s Cancer Study Group Study

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Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by altered imprinting pattern in the IGF2-H19 domain.

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Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome

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

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Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith-Wiedemann syndrome and Wilms' tumor

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7 January 2021

Microdeletion and IGF2 loss of imprinting in a cascade causing Beckwith-Wiedemann syndrome with Wilms' tumor

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7 January 2021

Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour

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7 January 2021

Relaxation of imprinted genes in human cancer.

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7 January 2021

Relaxation of insulin-like growth factor II gene imprinting implicated in Wilms' tumour

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Epigenetic lesions at the H19 locus in Wilms' tumour patients

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7 January 2021

Loss of imprinting of IGF2 is linked to reduced expression and abnormal methylation of H19 in Wilms' tumour

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7 January 2021

Epigenetic changes at the insulin-like growth factor II/H19 locus in developing kidney is an early event in Wilms tumorigenesis.

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7 January 2021

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

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7 January 2021

Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.

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7 January 2021

Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib

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Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes.

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7 January 2021

Characteristics and outcome of children with Beckwith-Wiedemann syndrome and Wilms' tumor: a report from the National Wilms Tumor Study Group

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Nephrogenic rests, nephroblastomatosis, and the pathogenesis of Wilms' tumor

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Guidelines for the diagnosis and management of individuals with neurofibromatosis 1

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Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations

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7 January 2021

Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome

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7 January 2021

Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome.

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Epigenotyping as a tool for the prediction of tumor risk and tumor type in patients with Beckwith-Wiedemann syndrome (BWS)

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7 January 2021

Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome

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7 January 2021

Surveillance for Wilms tumour in at-risk children: pragmatic recommendations for best practice

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7 January 2021