Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Thorkild Terkelsen"'
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
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
Abstract Background Pathogenic variants in STK11, also designated as LKB1, cause Peutz–Jeghers syndrome, which is a rare autosomal dominant disorder characterized by mucocutaneous pigmentation changes, polyposis, and a high risk of cancer. Methods
Externí odkaz:
https://doaj.org/article/91e31e77595f4b7f98258d8430790a7a
Autor:
Bjørn A Nexø, Bettina Hansen, Kari K Nissen, Lisa Gundestrup, Thorkild Terkelsen, Palle Villesen, Shervin Bahrami, Thor Petersen, Finn S Pedersen, Magdalena J Laska
Publikováno v:
PLoS ONE, Vol 8, Iss 9, p e74063 (2013)
We recently described that the autoimmune, central nervous system disease, multiple sclerosis (MS), is genetically associated with the human endogenous retroviral locus, HERV-Fc1, in Scandinavians. A number of dominant human genes encoding factors th
Externí odkaz:
https://doaj.org/article/1328f62d57a147d4ab7f50b57ca1381a
Autor:
Bjørn A. Nexø, Bettina Hansen, Kari K. Nissen, Lisa Gundestrup, Thorkild Terkelsen, Palle Villesen, Shervin Bahrami, Thor Petersen, Finn S. Pedersen, Magdalena J. Laska
Publikováno v:
PLoS ONE, Vol 8, Iss 10 (2013)
Externí odkaz:
https://doaj.org/article/00bb2ee089ef42de84d598083c8c3fde
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:
Maria O. Levitin, Lettie E Rawlins, Gabriela Sanchez-Andrade, Osama A. Arshad, Stephan C. Collins, Stephen J. Sawiak, Phillip H. Iffland, Malin H.L. Andersson, Caleb Bupp, Emma L. Cambridge, Eve L. Coomber, Ian Ellis, Johanna C. Herkert, Holly Ironfield, Logan Jory, Perrine F. Kretz, Sarina G. Kant, Alexandra Neaverson, Esther Nibbeling, Christine Rowley, Emily Relton, Mark Sanderson, Ethan M. Scott, Helen Stewart, Andrew Y. Shuen, John Schreiber, Liz Tuck, James Tonks, Thorkild Terkelsen, Conny van Ravenswaaij-Arts, Pradeep Vasudevan, Olivia Wenger, Michael Wright, Andrew Day, Adam Hunter, Minal Patel, Christopher J. Lelliott, Peter B. Crino, Binnaz Yalcin, Andrew Crosby, Emma L. Baple, Darren W. Logan, Matthew E. Hurles, Sebastian S. Gerety
KPTN-related disorder (KRD) is an autosomal recessive disorder associated with germline variants in KPTN (kaptin), a component of the mTOR regulatory complex KICSTOR. To gain further insights into the pathogenesis of KRD, we analysed mouse knockout a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c4cbb0278fd0279fd1689af80476ba3a
https://doi.org/10.1101/2022.07.15.500213
https://doi.org/10.1101/2022.07.15.500213
Autor:
Uffe Birk Jensen, Tiffany Busa, Simon Holden, Thorkild Terkelsen, Niels Ove Illum, Christina R. Fagerberg, Chantal Missirian, Kate Chandler, Charlotte Brasch-Andersen
Publikováno v:
Terkelsen, T, Brasch-Andersen, C, Illum, N, Busa, T, Missirian, C, Chandler, K, Holden, S T, Jensen, U B & Fagerberg, C R 2022, ' Mono-allelic loss of YTHDF3 and neurodevelopmental disorder : clinical features of four individuals with 8q12.3 deletions ', Clinical Genetics, vol. 101, no. 2, pp. 208-213 . https://doi.org/10.1111/cge.14083
The YTH domain family member 3 gene (YTHDF3) encodes a reader of the abundant N6-methyladenosine (m6A) modification of eukaryotic mRNA, which plays an essential role in regulating mRNA stability and is necessary to achieve normal development of the c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcfd694b1b413e6ad4147398b027c8ee
https://pure.au.dk/portal/da/publications/monoallelic-loss-of-ythdf3-and-neurodevelopmental-disorder(203b4b52-de15-4c1c-87d1-c237ad111231).html
https://pure.au.dk/portal/da/publications/monoallelic-loss-of-ythdf3-and-neurodevelopmental-disorder(203b4b52-de15-4c1c-87d1-c237ad111231).html
Autor:
Uffe Birk Jensen, Thorkild Terkelsen, Chantal Missirian, Simon Holden, Tiffany Busa, Christina R. Fagerberg, Niels Ove Illum, Charlotte Brasch-Andersen, Kate Chandler
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a993f60bc599fb2beaef3072092f57c1
https://doi.org/10.1111/cge.14083/v2/response1
https://doi.org/10.1111/cge.14083/v2/response1
Publikováno v:
Terkelsen, T, Rønning, H & Skytte, A-B 2020, ' Impact of genetic counseling on the uptake of contralateral prophylactic mastectomy among younger women with breast cancer ', Acta Oncologica, vol. 59, no. 1, pp. 60-65 . https://doi.org/10.1080/0284186X.2019.1648860
Background: Preoperative genetic testing affects the surgical decision-making among women with breast cancer. To avoid breast-conserving surgery and to offer the possibility of mastectomy with immediate reconstruction in high-risk patients, genetic t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::257a7caffa393609f7452d75a83116b5
https://pure.au.dk/ws/files/226833869/Postprint_version.pdf
https://pure.au.dk/ws/files/226833869/Postprint_version.pdf