Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Susanne Eriksen Boonen"'
Autor:
Nanna Bæk Møller, Desirée Sofie Boonen, Elisabeth Simone Feldner, Qin Hao, Martin Larsen, Anne-Vibeke Lænkholm, Åke Borg, Anders Kvist, Therese Törngren, Uffe Birk Jensen, Susanne Eriksen Boonen, Mads Thomassen, Thorkild Terkelsen
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
Abstract BOADICEA is a comprehensive risk prediction model for breast and/or ovarian cancer (BC/OC) and for carrying pathogenic variants (PVs) in cancer susceptibility genes. In addition to BRCA1 and BRCA2, BOADICEA version 6 includes PALB2, CHEK2, A
Externí odkaz:
https://doaj.org/article/7720269c009548b3b95c0d2edd9d5c77
Autor:
Nanna Bæk Møller, Desirée Sofie Boonen, Elisabeth Simone Feldner, Qin Hao, Martin Larsen, Anne‑Vibeke Lænkholm, Åke Borg, Anders Kvist, Therese Törngren, Uffe Birk Jensen, Susanne Eriksen Boonen, Mads Thomassen, Thorkild Terkelsen
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-2 (2023)
Externí odkaz:
https://doaj.org/article/f3f3aaf8eb464ea39a6defff1960603f
Autor:
Emma Lund Johansen, Christine Fribert Thusgaard, Mads Thomassen, Susanne Eriksen Boonen, Kirsten Marie Jochumsen
Publikováno v:
Gynecologic Oncology Reports, Vol 44, Iss , Pp 101105- (2022)
The risk of ovarian, tubal, and peritoneal cancer is related to germline pathogenic variants, and over time, the number of known disease-associated genes has increased significantly. This study reviews the literature regarding the topic from a histor
Externí odkaz:
https://doaj.org/article/f885b7ad64b348a88a87b17ce5658b16
Autor:
Mette eGilling, Hanne Borger Rasmussen, Kirstine eCalloe, Ana Filipa Sequeira, Marta eBaretto, Guiomar eOliveira, Joana eAlmeida, Marlene Briciet Lauritsen, Reinhard eUllmann, Susanne Eriksen Boonen, Karen eBrøndum-Nielsen, Vera M Kalscheuer, Zeynep eTümer, Astrid M. Vicente, Nicole eSchmitt, Niels eTommerup
Publikováno v:
Frontiers in Genetics, Vol 4 (2013)
Heterozygous mutations in the KCNQ3 gene on chromosome 8q24 encoding the voltage-gated potassium channel KV7.3 subunit have previously been associated with rolandic epilepsy and idiopathic generalized epilepsy (IGE) including benign neonatal convulsi
Externí odkaz:
https://doaj.org/article/de1d7644a4a9429f891018223b1a6627
Autor:
Nanna Bæk Møller, Desirée Sofie Boonen, Elisabeth Simone Feldner, Qin Hao, Martin Larsen, Anne-Vibeke Lænkholm, Åke Borg, Anders Kvist, Therese Törngren, Uffe Birk Jensen, Susanne Eriksen Boonen, Mads Thomassen, Thorkild Terkelsen
Background: The Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA), now a part of CanRisk, is a comprehensive risk prediction tool for breast and/or ovarian cancer (BOC) with a high accuracy to predict the li
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ee5722ff8b8e5c4e730434c60acfccdb
https://doi.org/10.21203/rs.3.rs-2158118/v1
https://doi.org/10.21203/rs.3.rs-2158118/v1
Autor:
Louise Brinth, Henrik Nielsen, Kim Varming, Susanne Eriksen Boonen, Ana Gonzalez Ebsen, Fernández-Guerra, P., Anne-Sophie Schou, Jesper Mehlsen, Niels Gregersen, Ivan Brandslund, Rikke Katrine Jentoft Olsen
Publikováno v:
Brinth, L, Nielsen, H, Varming, K, Boonen, S E, Ebsen, A C G, Fernández-Guerra, P, Schou, A S, Mehlsen, J, Gregersen, N, Brandslund, I & Olsen, R K J 2019, ' Myalgisk encefalomyelitis eller kronisk træthedssyndrom ', Ugeskrift for Laeger, bind 181, nr. 21, V08180570, s. 2025-2027 . < https://ugeskriftet.dk/videnskab/myalgisk-encefalomyelitis-eller-kronisk-traethedssyndrom >
University of Southern Denmark
University of Southern Denmark
In this review, we discuss the myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS), which is characterised by extreme mental and physical fatigue with associated symptoms of pain, disturbed sleep, cognitive and autonomic dysfunction, as well
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1cea5acdfd4e3d3d25103f4a5b795916
https://vbn.aau.dk/da/publications/b3798463-8cf7-40f5-85a0-0c82d87af2a8
https://vbn.aau.dk/da/publications/b3798463-8cf7-40f5-85a0-0c82d87af2a8
Publikováno v:
Ugeskrift for laeger. 168(43)
A case story is presented of a child diagnosed by chromosome analysis to be carrier of the fragile X chromosome at a low frequency in cultured lymphocytes. DNA analysis of the FMR1 gene at a later date did not reveal expansion of the FMR1 repeat, the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6724c8c98ac03ecbb2acf9edd04c7dff
https://pubmed.ncbi.nlm.nih.gov/17069739
https://pubmed.ncbi.nlm.nih.gov/17069739