Zobrazeno 1 - 10
of 51
pro vyhledávání: '"Morten Dunø"'
Autor:
Agnethe Berglund, Marie J. Ornstrup, Marie Lind-Holst, Morten Dunø, Marie Bækvad-Hansen, Anders Juul, Luise Borch, Niels Jørgensen, Åse K. Rasmussen, Marianne Andersen, Katharina M. Main, Dorte Hansen, Claus H. Gravholt
Publikováno v:
The Lancet Regional Health. Europe, Vol 28, Iss , Pp 100598- (2023)
Summary: Background: The prevalence of newborns with congenital adrenal hyperplasia (CAH) detected by neonatal screening is well-described, but data including patients diagnosed later in life are extremely limited. This study aimed to describe diagno
Externí odkaz:
https://doaj.org/article/3fc38c56afa84c84b91b32bb19c9e7ce
Autor:
Freja Fornander, Tuva Åsatun Solheim, Anne-Sofie Vibæk Eisum, Nanna Scharff Poulsen, Annarita Ghosh Andersen, Julia Rebecka Dahlqvist, Morten Dunø, John Vissing
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Objective: To explore fat replacement, muscle strength, and clinical features in women heterozygous for a pathogenic DMD variant, we prospectively examined 53 women, assuming that some of these women—despite of the recessive X-linked inheritance—
Externí odkaz:
https://doaj.org/article/f742d8f282614363aa40e4e0d78da5f8
Autor:
Tuva Å. Solheim, Freja Fornander, Anna A. Raja, Rasmus Møgelvang, Nanna S. Poulsen, Morten Dunø, Henning Bundgaard, John Vissing
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Objective: To determine the frequency and extent of cardiac involvement in female carriers of pathogenic variants in DMD, 53 women were examined through an observational, cross-sectional study.Methods: Genetically verified female carriers of pathogen
Externí odkaz:
https://doaj.org/article/a5bbe2353054441c96e810a8952916c8
Autor:
Allan Meldgaard Lund, Flemming Wibrand, Kristin Skogstrand, Marie Bækvad-Hansen, Niels Gregersen, Brage Storstein Andresen, David M. Hougaard, Morten Dunø, Rikke Katrine Jentoft Olsen
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 3, p 50 (2021)
Historically, the analyses used for newborn screening (NBS) were biochemical, but increasingly, molecular genetic analyses are being introduced in the workflow. We describe the application of molecular genetic analyses in the Danish NBS programme and
Externí odkaz:
https://doaj.org/article/e2d3d02166b1482183928729f9ccf7df
Publikováno v:
Genes, Vol 11, Iss 8, p 936 (2020)
Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystem disorder mainly characterized by gradual muscle loss, weakness, and delayed relaxation after muscle contraction. It is caused by an expanded CTG repeat in the 3′ UTR of DMPK, whic
Externí odkaz:
https://doaj.org/article/068d4ec570294e788ab0603cd59ac179
Publikováno v:
International Journal of Neonatal Screening, Vol 5, Iss 2, p 19 (2019)
Galactosaemia has been included in various newborn screening programs since 1963. Several methods are used for screening; however, the predominant methods used today are based on the determination of either galactose-1-phosphate uridyltransferase (GA
Externí odkaz:
https://doaj.org/article/d8efab922c4c48259aad1ee1662b4561
Autor:
Karin A W Wadt, Lauren G Aoude, Lotte Krogh, Lone Sunde, Anders Bojesen, Karen Grønskov, Nine Wartacz, Jakob Ek, Morten Tolstrup-Andersen, Mette Klarskov-Andersen, Åke Borg, Steffen Heegaard, Jens F Kiilgaard, Thomas V O Hansen, Kerenaftali Klein, Göran Jönsson, Krzysztof T Drzewiecki, Morten Dunø, Nicholas K Hayward, Anne-Marie Gerdes
Publikováno v:
PLoS ONE, Vol 10, Iss 3, p e0122662 (2015)
Both environmental and host factors influence risk of cutaneous melanoma (CM), and worldwide, the incidence varies depending on constitutional determinants of skin type and pigmentation, latitude, and patterns of sun exposure. We performed genetic an
Externí odkaz:
https://doaj.org/article/030a117cb5df487c86b7f93e445444b8
Autor:
Tanja Schlaikjær Hartwig, Louise Ambye, Jennifer R Gruhn, Jesper Friis Petersen, Tine Wrønding, Letizia Amato, Andrew Chi-Ho Chan, Boyang Ji, Maiken Hemme Bro-Jørgensen, Lene Werge, Mette Marie Babiel Schmidt Petersen, Clara Brinkmann, Julie Birch Petersen, Morten Dunø, Iben Bache, Markus J Herrgård, Finn Stener Jørgensen, Eva R Hoffmann, Henriette Svarre Nielsen, Nina la Cour Freiesleben, Finn Stener Jørgensen Jørgensen, Sofie Bliddal, Therese Juhlin Søndergaard, Sisse Rye Ostrowski, Erik Sørensen, Margit Anita Hørup Larsen, Markus J. Herregård, Eva Hoffmann, Jenny Gruhn, Andy Chi Ho Chan, Astrid Marie Kolte, David Westergaard, Unnur þorsteinsdóttir, Kári Stefánsson, Hákon Jónsson, Ólafur þ. Magnússon, Valgerdur Steinthorsdottir, Lone Schmidt, Karsten Kristiansen, Pia Rørbæk Kamstrup, Mette Nyegaard, Maria Christine Krog, Ellen Christine Leth Løkkegaard, Helle Ejdrup Bredkjær, Charlotte Wilken-Jensen
Publikováno v:
Schlaikjær Hartwig, T, Ambye, L, Gruhn, J R, Petersen, J F, Wrønding, T, Amato, L, Chi-Ho Chan, A, Ji, B, Bro-Jørgensen, M H, Werge, L, Petersen, M M B S, Brinkmann, C, Petersen, J B, Dunø, M, Bache, I, Herrgård, M J, Jørgensen, F S, Hoffmann, E R, Nielsen, H S, COPL consortium & Nyegaard, M 2023, ' Cell-free fetal DNA for genetic evaluation in Copenhagen Pregnancy Loss Study (COPL) : a prospective cohort study ', Lancet, vol. 401, no. 10378, pp. 762-771 . https://doi.org/10.1016/S0140-6736(22)02610-1
BACKGROUND: One in four pregnancies end in a pregnancy loss. Although the effect on couples is well documented, evidence-based treatments and prediction models are absent. Fetal aneuploidy is associated with a higher chance of a next successful pregn
Autor:
Mathis Hildonen, Marco Ferilli, Tina Duelund Hjortshøj, Morten Dunø, Lotte Risom, Mads Bak, Jakob Ek, Rikke S. Møller, Andrea Ciolfi, Marco Tartaglia, Zeynep Tümer
Publikováno v:
Clinical Genetics. 103:688-692
Autor:
Agnethe Berglund, Marie J. Ornstrup, Marie Lind-Holst, Morten Dunø, Marie Bækvad-Hansen, Anders Juul, Luise Borch, Niels Jørgensen, Åse K. Rasmussen, Marianne Andersen, Katharina M. Main, Dorte Hansen, Claus H. Gravholt
Publikováno v:
Berglund, A, Ornstrup, M J, Lind-Holst, M, Dunø, M, Bækvad-Hansen, M, Juul, A, Borch, L, Jørgensen, N, Rasmussen, Å K, Andersen, M, Main, K M, Hansen, D & Gravholt, C H 2023, ' Epidemiology and diagnostic trends of congenital adrenal hyperplasia in Denmark : a retrospective, population-based study ', The Lancet Regional Health-Europe, vol. 28, 100598 . https://doi.org/10.1016/j.lanepe.2023.100598
Background: The prevalence of newborns with congenital adrenal hyperplasia (CAH) detected by neonatal screening is well-described, but data including patients diagnosed later in life are extremely limited. This study aimed to describe diagnostic tren
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::865d97c841612d01d6d9ac8a5cb6d781
https://pure.au.dk/portal/da/publications/epidemiology-and-diagnostic-trends-of-congenital-adrenal-hyperplasia-in-denmark(e9603de4-fb75-46b6-879f-4d4fa4362910).html
https://pure.au.dk/portal/da/publications/epidemiology-and-diagnostic-trends-of-congenital-adrenal-hyperplasia-in-denmark(e9603de4-fb75-46b6-879f-4d4fa4362910).html