(Q43740895)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18836444%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

title

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

1 reference

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15 January 2020

22

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15 January 2020

Eamonn R Maher

18

1 reference

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15 January 2020

Charles Stiller

20

1 reference

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15 January 2020

Kathryn Pritchard-Jones

21

1 reference

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15 January 2020

17

Pascal Pujol

1 reference

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15 January 2020

author name string

Richard H Scott

1

1 reference

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15 January 2020

Jenny Douglas

2

1 reference

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15 January 2020

Linda Baskcomb

3

1 reference

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15 January 2020

Nikki Huxter

4

1 reference

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15 January 2020

Karen Barker

5

1 reference

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15 January 2020

Sandra Hanks

6

1 reference

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15 January 2020

Alan Craft

7

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15 January 2020

Mary Gerrard

8

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15 January 2020

Janice A Kohler

9

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15 January 2020

Gill A Levitt

10

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15 January 2020

Sue Picton

11

1 reference

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15 January 2020

Barry Pizer

12

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15 January 2020

Milind D Ronghe

13

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15 January 2020

Denise Williams

14

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15 January 2020

Factors Associated with Childhood Tumours (FACT) Collaboration

15

1 reference

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15 January 2020

Jackie A Cook

16

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15 January 2020

Jillian M Birch

19

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15 January 2020

language of work or name

English

0 references

publication date

5 October 2008

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15 January 2020

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15 January 2020

volume

40

1 reference

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15 January 2020

issue

11

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15 January 2020

page(s)

1329-1334

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

15 January 2020

cites work

1 reference

7 January 2021

Beckwith-Wiedemann syndrome

1 reference

7 January 2021

Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Relaxation of imprinted genes in human cancer.

1 reference

7 January 2021

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

1 reference

7 January 2021

Epigenetic lesions at the H19 locus in Wilms' tumour patients

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Guidelines for the diagnosis and management of individuals with neurofibromatosis 1

1 reference

7 January 2021

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

1 reference

7 January 2021

Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome

1 reference

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.

1 reference

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.

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome

1 reference

7 January 2021

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

1 reference

7 January 2021