Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Tue, Diemer"'
Autor:
Anna Byrjalsen, Laura Roos, Tue Diemer, John Gásdal Karstensen, Kristine Løssl, Anne Marie Jelsig
Publikováno v:
Byrjalsen, A, Roos, L, Diemer, T, Karstensen, J G, Løssl, K & Jelsig, A M 2023, ' Preimplantation genetic testing in two Danish couples affected by Peutz-Jeghers syndrome ', Scandinavian Journal of Gastroenterology, vol. 58, no. 3, pp. 314-318 . https://doi.org/10.1080/00365521.2022.2129031
BACKGROUND: Guidelines from the European Hereditary Tumor Group as well as The Danish National Guidelines for Peutz-Jeghers Syndrome (PJS) state that both prenatal diagnosis and preimplantation genetic testing for monogenic disorders (PGT-M) should b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcd8c36ea1a7ac5e870dc57fcd2c03fe
https://vbn.aau.dk/da/publications/c2d57866-c6bb-46ed-a876-ce061af847b9
https://vbn.aau.dk/da/publications/c2d57866-c6bb-46ed-a876-ce061af847b9
Autor:
Kyle Thompson, Xiao-Long Zhou, Flemming Wibrand, Wen-Qiang Zheng, Julie Vogt, Daria Diodato, Lucy Raymond, Anja Ernst, Robert W. Taylor, Emanuele Bellacchio, Rita Horvath, Jakob Ek, Benjamin Munro, Manali Chitre, Dorothy K. Grange, Tue Diemer, Elsebet Østergaard, Courtney E. French, Toni S. Pearson, Signe Vandal Pedersen
Publikováno v:
Zheng, W-Q, Pedersen, S V, Thompson, K, Bellacchio, E, French, C E, Munro, B, Pearson, T S, Vogt, J, Diodato, D, Diemer, T, Ernst, A, Horvath, R, Chitre, M, Ek, J, Wibrand, F, Grange, D K, Raymond, L, Zhou, X-L, Taylor, R W & Ostergaard, E 2022, ' Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease ', Human Molecular Genetics, vol. 31, no. 4, pp. 523-534 . https://doi.org/10.1093/hmg/ddab257
TARS2 encodes human mitochondrial threonyl tRNA-synthetase that is responsible for generating mitochondrial Thr-tRNAThr and clearing mischarged Ser-tRNAThr during mitochondrial translation. Pathogenic variants in TARS2 have hitherto been reported in
Autor:
Christian L. F. Toft, Tue Diemer, Hans J. Ingerslev, Inge S. Pedersen, Stine W. Adrian, Ulrik S. Kesmodel
Publikováno v:
Frisk Toft, C L, Diemer, T, Ingerslev, H J, Pedersen, I S, Adrian, S W & Kesmodel, U S 2022, ' Patients’ choices and opinions on chorionic villous sampling and non-invasive alternatives for prenatal testing following preimplantation genetic testing for hereditary disorders : A cross-sectional questionnaire study ', Prenatal Diagnosis, vol. 42, no. 2, pp. 212-225 . https://doi.org/10.1002/pd.6088
Objective: The aim of this study was to investigate choices of and reasoning behind chorionic villous sampling and opinions on non-invasive prenatal testing among women and men achieving pregnancy following preimplantation genetic testing (PGT) for h
Autor:
Kristina, Løssl, Jane Gasseholm, Bentzen, Morten Rønn, Petersen, Laura Sønderberg, Roos, Kristín Rós, Kjartansdóttir, Marie Louise, Grøndahl, Bettina, Troest, Christian Liebst Frisk, Toft, Inge Søkilde, Pedersen, Tue, Diemer, Hans Jakob, Ingerslev
Publikováno v:
Ugeskrift for laeger. 183(48)
Preimplantation genetic testing (PGT) for known familial monogenetic disease (PGT-M) or structural chromosomal rearrangements (PGT-SR) has evolved into a well-established alternative to prenatal diagnosis. PGT significantly reduces the risk of a preg
Autor:
Kristine Løssl, Janne Gasseholm Bentzen, Morten Rønn Petersen, Laura Kirstine Sønderberg Roos, Kristín Rós Kjartansdóttir, Marie Louise Grøndahl, Bettina Troest, Christian Liebst Frisk Toft, Inge Søkilde Pedersen, Tue Diemer, Hans Jakob Ingerslev
Publikováno v:
Løssl, K, Bentzen, J G, Petersen, M R, Roos, L K S, Kjartansdóttir, K R, Grøndahl, M L, Troest, B, Toft, C L F, Pedersen, I S, Diemer, T & Ingerslev, H J 2021, ' Præimplantationsgenetisk testning ', Ugeskrift for Laeger, bind 183, V04210378 . < https://ugeskriftet-dk.auh.aub.aau.dk/videnskab/praeimplantationsgenetisk-testning >
Løssl, K, Bentzen, J G, Petersen, M R, Roos, L S, Kjartansdóttir, K R, Grøndahl, M L, Troest, B, Toft, C L F, Pedersen, I S, Diemer, T & Ingerslev, H J 2021, ' Præimplantationsgenetisk testning ', Ugeskrift for Laeger, bind 183, nr. 23, V04210378 .
Aalborg University
Løssl, K, Bentzen, J G, Petersen, M R, Roos, L S, Kjartansdóttir, K R, Grøndahl, M L, Troest, B, Toft, C L F, Pedersen, I S, Diemer, T & Ingerslev, H J 2021, ' Præimplantationsgenetisk testning ', Ugeskrift for Laeger, bind 183, nr. 23, V04210378 .
Aalborg University
Preimplantation genetic testing (PGT) for known familial monogenetic disease (PGT-M) or structural chromosomal rearrangements (PGT-SR) has evolved into a well-established alternative to prenatal diagnosis. PGT significantly reduces the risk of a preg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::76e671b279632613f83c9663b692a8df
https://vbn.aau.dk/da/publications/b51df972-1ee8-4791-81bc-58cf6878fbeb
https://vbn.aau.dk/da/publications/b51df972-1ee8-4791-81bc-58cf6878fbeb
Autor:
Konrad Platzer, Christina Fenger, Ilona Krey, Elena Gardella, Kaja Kristine Selmer, Johannes R. Lemke, Vivian Wan Yu Liao, Holger Lerche, Astrid Bertsche, Mary Chebib, Steffen Syrbe, Philip K. Ahring, Barbro Stadheim, Rohini Coorg, Teresa Santiago-Sim, Mahmoud Koko, Rikke S. Møller, Evan E. Eichler, Katrine M Johannesen, Hannah Davis, Tue Diemer, Charlotte Peinhardt
Publikováno v:
Brain
Ahring, P K, Liao, V W Y, Gardella, E, Johannesen, K M, Krey, I, Selmer, K K, Stadheim, B F, Davis, H, Peinhardt, C, Koko, M, Coorg, R K, Syrbe, S, Bertsche, A, Santiago-Sim, T, Diemer, T, Fenger, C D, Platzer, K, Eichler, E E, Lerche, H, Lemke, J R, Chebib, M & Møller, R S 2022, ' Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy ', Brain, vol. 145, no. 4, awab391, pp. 1299–1309 . https://doi.org/10.1093/brain/awab391
Ahring, P K, Liao, V W Y, Gardella, E, Johannesen, K M, Krey, I, Selmer, K K, Stadheim, B F, Davis, H, Peinhardt, C, Koko, M, Coorg, R K, Syrbe, S, Bertsche, A, Santiago-Sim, T, Diemer, T, Fenger, C D, Platzer, K, Eichler, E E, Lerche, H, Lemke, J R, Chebib, M & Møller, R S 2022, ' Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy ', Brain : a journal of neurology, vol. 145, no. 4, pp. 1299-1309 . https://doi.org/10.1093/brain/awab391
Ahring, P K, Liao, V W Y, Gardella, E, Johannesen, K M, Krey, I, Selmer, K K, Stadheim, B F, Davis, H, Peinhardt, C, Koko, M, Coorg, R K, Syrbe, S, Bertsche, A, Santiago-Sim, T, Diemer, T, Fenger, C D, Platzer, K, Eichler, E E, Lerche, H, Lemke, J R, Chebib, M & Møller, R S 2022, ' Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy ', Brain, vol. 145, no. 4, awab391, pp. 1299–1309 . https://doi.org/10.1093/brain/awab391
Ahring, P K, Liao, V W Y, Gardella, E, Johannesen, K M, Krey, I, Selmer, K K, Stadheim, B F, Davis, H, Peinhardt, C, Koko, M, Coorg, R K, Syrbe, S, Bertsche, A, Santiago-Sim, T, Diemer, T, Fenger, C D, Platzer, K, Eichler, E E, Lerche, H, Lemke, J R, Chebib, M & Møller, R S 2022, ' Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy ', Brain : a journal of neurology, vol. 145, no. 4, pp. 1299-1309 . https://doi.org/10.1093/brain/awab391
A potential link between GABRD encoding the δ subunit of extrasynaptic GABAA receptors and neurodevelopmental disorders has largely been disregarded due to conflicting conclusions from early studies. However, we identified seven heterozygous missens
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b44048fe4ccc6734b6e4fa9d4ad47625
https://europepmc.org/articles/PMC9630717/
https://europepmc.org/articles/PMC9630717/
Autor:
Tue Diemer, Inge Søkilde Pedersen, Ulrik Schiøler Kesmodel, Henrik Okkels, Kristín Rós Kjartansdóttir, Birte Degn, Anja Ernst, Hans Jakob Ingerslev, Christian Liebst Frisk Toft
Publikováno v:
Toft, C L F, Ingerslev, H J, Kesmodel, U S, Diemer, T, Degn, B, Ernst, A, Okkels, H, Kjartansdóttir, K R & Pedersen, I S 2020, ' A systematic review on concurrent aneuploidy screening and preimplantation genetic testing for hereditary disorders : What is the prevalence of aneuploidy and is there a clinical effect from aneuploidy screening? ', Acta Obstetricia et Gynecologica Scandinavica, vol. 99, no. 6, pp. 696-706 . https://doi.org/10.1111/aogs.13823
INTRODUCTION: In assisted reproductive technology, aneuploidy is considered a primary cause of failed embryo implantation. This has led to the implementation of preimplantation genetic testing for aneuploidy in some clinics. The prevalence of aneuplo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::535cc618940dc7f3e864e92020f6a09a
https://vbn.aau.dk/da/publications/8b6be070-88fe-4cdc-866e-f3cea9e28d66
https://vbn.aau.dk/da/publications/8b6be070-88fe-4cdc-866e-f3cea9e28d66
Autor:
Viktoria, Holmqvist, Laura Kristine Soenderberg, Roos, Kristin Ros, Kjartansdottir, Morten, Dunø, Morten Rønn, Petersen, Christina, Hnida, Inge Søkilde, Pedersen, Anja, Ernst, Christian Liebst Frisk, Toft, Tue, Diemer, Hans Jakob, Ingerslev, Anja, Pinborg, Kristine, Løssl
Publikováno v:
Ugeskrift for laeger. 181(20)
This review summarises the current knowledge on preimplantation genetic testing for aneuploidy (PGT-A). Selection and transfer of euploid embryos aim to improve live birth rate (LBR) per embryo transfer, but fluorescence in situ hybridisation-based P
Autor:
Viktoria Holmqvist, Laura Kristine Soenderberg Roos, Kristin Ros Kjartansdottir, Morten Dunø, Christina Hnida, Inge Søkilde Pedersen, Anja Ernst, Christian Liebst Frisk Toft, Tue Diemer, Hans Jakob Ingerslev, Anja Pinborg, Kristine Løssl
Publikováno v:
Holmqvist, V, Roos, L K S, Kjartansdottir, K R, Dunø, M, Hnida, C, Pedersen, I S, Ernst, A, Toft, C L F, Diemer, T, Ingerslev, H J, Pinborg, A & Løssl, K 2019, ' Præimplantationsgenetisk testning for aneuploidi ', Ugeskrift for Laeger, bind 181, nr. 20, V12180849 . < https://ugeskriftet.dk/videnskab/praeimplantationsgenetisk-testning-aneuploidi >
Aalborg University
Aalborg University
This review summarises the current knowledge on preimplantation genetic testing for aneuploidy (PGT-A). Selection and transfer of euploid embryos aim to improve live birth rate (LBR) per embryo transfer, but fluorescence in situ hybridisation-based P
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::95b07aade039c23fe8e570946fdfdc64
https://vbn.aau.dk/da/publications/93496bcc-6440-4fa1-9e5e-975212249395
https://vbn.aau.dk/da/publications/93496bcc-6440-4fa1-9e5e-975212249395
Autor:
Hans Jakob, Ingerslev, Birte, Degn, Christina, Hnida, Tue, Diemer, Michael Bjørn, Petersen, Tine Nørregaard, Olesen, Henrik, Krarup, Inge Søkilde, Pedersen
Publikováno v:
Ugeskrift for laeger. 180(14)
In Denmark, preimplantation genetic diagnosis (PGD) is offered within the public healthcare to families with a known risk of an inherited disease in a child - as an alternative to prenatal diagnosis. It is a well-established technique with rather wel