Maternal versus paternal inheritance of a 132 bp 11p15.5 microdeletion affecting KCNQ1OT1 and associated phenotypes

Ulrik Kristoffer Stoltze; Thomas Van Overeem Hansen; Jesper Sune Brok; Karen Gronskov; Asuman Z. Tumer; Lise Barlebo Ahlborn; Kjeld Schmiegelow; Karin A.W. Wadt

doi:10.1136/jmedgenet-2021-108335

Maternal versus paternal inheritance of a 132 bp 11p15.5 microdeletion affecting KCNQ1OT1 and associated phenotypes

Ulrik Kristoffer Stoltze^*, Thomas Van Overeem Hansen, Jesper Sune Brok, Karen Gronskov, Asuman Z. Tumer, Lise Barlebo Ahlborn, Kjeld Schmiegelow, Karin A.W. Wadt

^*Corresponding author af dette arbejde

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

2 Citationer (Scopus)

27 Downloads (Pure)

Originalsprog	Engelsk
Artikelnummer	108335
Tidsskrift	Journal of Medical Genetics
Vol/bind	60
Udgave nummer	2
Sider (fra-til)	128-130
Antal sider	3
ISSN	0022-2593
DOI	https://doi.org/10.1136/jmedgenet-2021-108335
Status	Udgivet - 2023

Bibliografisk note

Funding Information:
Funding was received from BørneCancerFonden, the European Regional Development fund (Interregional Childhood Oncology Precision Medicine Exploration (iCOPE). This work is part of Childhood Oncology Network Targeting Research, Organisation & Life expectancy (CONTROL) and supported by Danish Cancer Society (R-257-A14720) and the Danish Childhood Cancer Foundation (2019-5934).

Adgang til dokumentet

10.1136/jmedgenet-2021-108335Licens: CC BY-NC

FulltextForlagets udgivne version, 936 KBLicens: CC BY-NC

Citationsformater

@article{f4982f4d56394e0cb9ba931e7b70ca3a,

title = "Maternal versus paternal inheritance of a 132 bp 11p15.5 microdeletion affecting KCNQ1OT1 and associated phenotypes",

keywords = "epigenomics, genomics, medical oncology, pediatrics, sequence deletion",

author = "Stoltze, {Ulrik Kristoffer} and Hansen, {Thomas Van Overeem} and Brok, {Jesper Sune} and Karen Gronskov and Tumer, {Asuman Z.} and Ahlborn, {Lise Barlebo} and Kjeld Schmiegelow and Wadt, {Karin A.W.}",

note = "Funding Information: Funding was received from B{\o}rneCancerFonden, the European Regional Development fund (Interregional Childhood Oncology Precision Medicine Exploration (iCOPE). This work is part of Childhood Oncology Network Targeting Research, Organisation & Life expectancy (CONTROL) and supported by Danish Cancer Society (R-257-A14720) and the Danish Childhood Cancer Foundation (2019-5934). ",

year = "2023",

doi = "10.1136/jmedgenet-2021-108335",

language = "English",

volume = "60",

pages = "128--130",

journal = "Journal of Medical Genetics",

issn = "0022-2593",

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TY - JOUR

T1 - Maternal versus paternal inheritance of a 132 bp 11p15.5 microdeletion affecting KCNQ1OT1 and associated phenotypes

AU - Stoltze, Ulrik Kristoffer

AU - Hansen, Thomas Van Overeem

AU - Brok, Jesper Sune

AU - Gronskov, Karen

AU - Tumer, Asuman Z.

AU - Ahlborn, Lise Barlebo

AU - Schmiegelow, Kjeld

AU - Wadt, Karin A.W.

N1 - Funding Information: Funding was received from BørneCancerFonden, the European Regional Development fund (Interregional Childhood Oncology Precision Medicine Exploration (iCOPE). This work is part of Childhood Oncology Network Targeting Research, Organisation & Life expectancy (CONTROL) and supported by Danish Cancer Society (R-257-A14720) and the Danish Childhood Cancer Foundation (2019-5934).

PY - 2023

Y1 - 2023

KW - epigenomics

KW - genomics

KW - medical oncology

KW - pediatrics

KW - sequence deletion

U2 - 10.1136/jmedgenet-2021-108335

DO - 10.1136/jmedgenet-2021-108335

M3 - Journal article

C2 - 35772845

AN - SCOPUS:85134684986

SN - 0022-2593

VL - 60

SP - 128

EP - 130

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 2

M1 - 108335

ER -