Novel deletion in 11p15.5 imprinting center region 1 in a patient with Beckwith-Wiedemann syndrome provides insight into distal enhancer regulation and tumorigenesis-Reference-Cited by-同舟云学术

Novel deletion in 11p15.5 imprinting center region 1 in a patient with Beckwith-Wiedemann syndrome provides insight into distal enhancer regulation and tumorigenesis

Published:2016-09-21 Issue:3 Volume:64 Page:e26241
ISSN:1545-5009
Container-title:Pediatric Blood & Cancer
language:en
Short-container-title:Pediatr Blood Cancer

Author:

Bachmann Nadine¹,Crazzolara Roman²³,Bohne Florian⁴,Kotzot Dieter⁵,Maurer Kathrin²,Enklaar Thorsten⁴,Prawitt Dirk⁴,Bergmann Carsten¹⁶

Affiliation:

1. Center for Human Genetics; Bioscientia; Ingelheim Germany

2. Department for Pediatrics; Medical University Innsbruck; Innsbruck Austria

3. Tyrolean Cancer Research Institute; Innsbruck Austria

4. Center for Pediatrics and Adolescent Medicine; Johannes Gutenberg University Medical Center; Mainz Germany

5. Division of Human Genetics; Medical University of Innsbruck; Innsbruck Austria

6. Department of Medicine; University Hospital Freiburg; Freiburg Germany

Funder

Bundesministerium für Bildung und Forschung

Publisher

Wiley

Subject

Oncology,Hematology,Pediatrics, Perinatology and Child Health

Reference32 articles.

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2. Nephromegaly in infancy and early childhood: a risk factor for Wilms tumor in Beckwith-Wiedemann syndrome;DeBaun;J Pediatr,1998

3. Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome;Engel;J Med Genet,2000

4. Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome;Gaston;Eur J Hum Genet,2001

5. Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS;Bliek;Hum Mol Genet,2001

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3. Multi-locus DNA methylation analysis of imprinted genes in cattle from somatic cell nuclear transfer;Theriogenology;2022-07

4. A Beckwith-Wiedemann syndrome case with de novo 24 Mb duplication of chromosome 11p15.5p14.3;Molecular Cytogenetics;2021-03-03

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