Quantitative Muscle MRI and Clinical Findings in Women With Pathogenic Dystrophin Gene Variants

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

Cell-free fetal DNA for genetic evaluation in Copenhagen Pregnancy Loss Study (COPL): a prospective cohort study

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a971b9dd4a4677fb8fb9164bebc33e0d
https://doi.org/10.1016/s0140-6736(22)02610-1

Use of Molecular Genetic Analyses in Danish Routine Newborn Screening

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

Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy

Autor: Maria Barington, Morten Dunø, Ulf Birkedal, John Vissing, Alfred Peter Born, Thomas Krag, Thomas van Overeem Hansen, Elsebet Østergaard

Publikováno v: Neuromuscular Disorders.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::88cdb9169b87c8a4871944878a5059f2
https://doi.org/10.1016/j.nmd.2023.05.007

Novel truncating variants in FGD1 detected in two Danish families with Aarskog–Scott syndrome and myopathic features

Autor: Allan Bayat, Bjørg Krett, Morten Dunø, Pernille Mathiesen Torring, John Vissing

Publikováno v: Bayat, A, Krett, B, Dunø, M, Torring, P M & Vissing, J 2022, ' Novel truncating variants in FGD1 detected in two Danish families with Aarskog–Scott syndrome and myopathic features ', American Journal of Medical Genetics, Part A, vol. 188, no. 7, pp. 2251-2257 . https://doi.org/10.1002/ajmg.a.62753

Aarskog–Scott syndrome (AAS) is a developmental disorder, caused by disease-causing hemizygous variants in the FGD1 gene. AAS is characterized by dysmorphic features, genital malformation, skeletal anomalies, and in some cases, intellectual disabil

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96c6fe1bced361970ee559d3b634791d
https://curis.ku.dk/ws/files/313779229/American_J_of_Med_Genetics_Pt_A_2022_Bayat_Novel_truncating_variants_in_FGD1_detected_in_two_Danish_families_with.pdf