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

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

Standard

Maternal versus paternal inheritance of a 132 bp 11p15.5 microdeletion affecting KCNQ1OT1 and associated phenotypes. / Stoltze, Ulrik Kristoffer; Hansen, Thomas Van Overeem; Brok, Jesper Sune; Gronskov, Karen; Tumer, Asuman Z.; Ahlborn, Lise Barlebo; Schmiegelow, Kjeld; Wadt, Karin A.W.

I: Journal of Medical Genetics, Bind 60, Nr. 2, 108335, 2023, s. 128-130.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

Harvard

Stoltze, UK, Hansen, TVO, Brok, JS, Gronskov, K, Tumer, AZ, Ahlborn, LB, Schmiegelow, K & Wadt, KAW 2023, 'Maternal versus paternal inheritance of a 132 bp 11p15.5 microdeletion affecting KCNQ1OT1 and associated phenotypes', Journal of Medical Genetics, bind 60, nr. 2, 108335, s. 128-130. https://doi.org/10.1136/jmedgenet-2021-108335

APA

Stoltze, U. K., Hansen, T. V. O., Brok, J. S., Gronskov, K., Tumer, A. Z., Ahlborn, L. B., Schmiegelow, K., & Wadt, K. A. W. (2023). Maternal versus paternal inheritance of a 132 bp 11p15.5 microdeletion affecting KCNQ1OT1 and associated phenotypes. Journal of Medical Genetics, 60(2), 128-130. [108335]. https://doi.org/10.1136/jmedgenet-2021-108335

Vancouver

Stoltze UK, Hansen TVO, Brok JS, Gronskov K, Tumer AZ, Ahlborn LB o.a. Maternal versus paternal inheritance of a 132 bp 11p15.5 microdeletion affecting KCNQ1OT1 and associated phenotypes. Journal of Medical Genetics. 2023;60(2):128-130. 108335. https://doi.org/10.1136/jmedgenet-2021-108335

Author

Stoltze, Ulrik Kristoffer ; Hansen, Thomas Van Overeem ; Brok, Jesper Sune ; Gronskov, Karen ; Tumer, Asuman Z. ; Ahlborn, Lise Barlebo ; Schmiegelow, Kjeld ; Wadt, Karin A.W. / Maternal versus paternal inheritance of a 132 bp 11p15.5 microdeletion affecting KCNQ1OT1 and associated phenotypes. I: Journal of Medical Genetics. 2023 ; Bind 60, Nr. 2. s. 128-130.

Bibtex

@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",
publisher = "B M J Group",
number = "2",

}

RIS

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

VL - 60

SP - 128

EP - 130

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

SN - 0022-2593

IS - 2

M1 - 108335

ER -

ID: 329572682