» Articles » PMID: 35772845

Maternal Versus Paternal Inheritance of a 132 Bp 11p15.5 Microdeletion Affecting and Associated Phenotypes

Overview
Journal J Med Genet
Specialty Genetics
Date 2022 Jun 30
PMID 35772845
Authors
Affiliations
Soon will be listed here.
Citing Articles

Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort.

Stoltze U, Hildonen M, Hansen T, Foss-Skiftesvik J, Byrjalsen A, Lundsgaard M J Med Genet. 2023; 60(9):842-849.

PMID: 37019617 PMC: 10447365. DOI: 10.1136/jmg-2022-108982.

References
1.
Poole R, Leith D, Docherty L, Shmela M, Gicquel C, Splitt M . Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1. Eur J Hum Genet. 2011; 20(2):240-3. PMC: 3260935. DOI: 10.1038/ejhg.2011.166. View

2.
Fiala E, Ortiz M, Kennedy J, Glodzik D, Fleischut M, Duffy K . 11p15.5 epimutations in children with Wilms tumor and hepatoblastoma detected in peripheral blood. Cancer. 2020; 126(13):3114-3121. PMC: 7383476. DOI: 10.1002/cncr.32907. View

3.
Collins R, Brand H, Karczewski K, Zhao X, Alfoldi J, Francioli L . A structural variation reference for medical and population genetics. Nature. 2020; 581(7809):444-451. PMC: 7334194. DOI: 10.1038/s41586-020-2287-8. View

4.
McLeod C, Gout A, Zhou X, Thrasher A, Rahbarinia D, Brady S . St. Jude Cloud: A Pediatric Cancer Genomic Data-Sharing Ecosystem. Cancer Discov. 2021; 11(5):1082-1099. PMC: 8102307. DOI: 10.1158/2159-8290.CD-20-1230. View

5.
Byrjalsen A, Hansen T, Stoltze U, Mehrjouy M, Barnkob N, Hjalgrim L . Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes. PLoS Genet. 2020; 16(12):e1009231. PMC: 7787686. DOI: 10.1371/journal.pgen.1009231. View