(Q58134227)

14

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Wolf Reik

object named as

Wolf Reik

12

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Andrea Riccio

object named as

Andrea Riccio

8

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author name string

Wendy N Cooper

1

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Anita Luharia

2

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Gail A Evans

3

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Hussain Raza

4

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Antonita C Haire

5

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Richard Grundy

6

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Sarah C Bowdin

7

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Gianfranco Sebastio

9

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Paul N Schofield

11

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Fiona Macdonald

European Journal of Human Genetics

13

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publication date

6 July 2005

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published in

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volume

13

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issue

9

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page(s)

1025-1032

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exact match

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201463

0 references

cites work

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Trisomy 11p15 and Beckwith-Wiedemann syndrome. A report of two cases.

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Paternal origin of 11p15 duplications in the Beckwith-Wiedemann syndrome. A new case and review of the literature

21 January 2018

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

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Sex dependent transmission of Beckwith-Wiedemann syndrome associated with a reciprocal translocation t(9;11)(p11.2;p15.5).

21 January 2018

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Mosaic uniparental disomy in Beckwith-Wiedemann syndrome.

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Uniparental paternal disomy in a genetic cancer-predisposing syndrome

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Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome

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An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome

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Low frequency of p57KIP2 mutation in Beckwith-Wiedemann syndrome

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

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Methylation of a CTCF-dependent boundary controls imprinted expression of the Igf2 gene

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

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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

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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

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Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome

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Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndrome

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Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome

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

21 January 2018

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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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Allelic methylation of H19 and IGF2 in the Beckwith-Wiedemann syndrome.

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Methylation associated inactivation of RASSF1A from region 3p21.3 in lung, breast and ovarian tumours.

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

21 January 2018

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Antisense WT1 transcription parallels sense mRNA and protein expression in fetal kidney and can elevate protein levels in vitro.

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Screening for Wilms tumor in children with Beckwith-Wiedemann syndrome or idiopathic hemihypertrophy

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Genomic imprinting at the WT1 gene involves a novel coding transcript (AWT1) that shows deregulation in Wilms' tumours.

21 January 2018

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

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Ablation of the CDK inhibitor p57Kip2 results in increased apoptosis and delayed differentiation during mouse development.

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Altered cell differentiation and proliferation in mice lacking p57KIP2 indicates a role in Beckwith–Wiedemann syndrome

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

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Beckwith-Wiedemann syndrome

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7 January 2021

Molecular analysis of patients with Wiedemann-Beckwith syndrome. II. Paternally derived disomies of chromosome 11

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Recurrent Wiedemann-Beckwith syndrome with inversion of chromosome (11)(p11.2p15.5)

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Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation

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7 January 2021

Seven cases of Wiedmann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11

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7 January 2021

Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS

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7 January 2021

Regulation of the Wilms' tumour suppressor (WT1) gene by an antisense RNA: a link with genomic imprinting?

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7 January 2021

LIT1 and H19 methylation defects in isolated hemihyperplasia

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7 January 2021

Screening for wilms' tumour in patients with aniridia, Beckwith syndrome, or hemihypertrophy

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7 January 2021

Epigenetic lesions at the H19 locus in Wilms' tumour patients

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7 January 2021

Synthesis of microporous transition-metal-oxide molecular sieves by a supramolecular templating mechanism

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7 January 2021