Works matching AU Rossing, Maria


Results: 68
    1

    Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach.

    Published in:
    Human Mutation, 2022, v. 43, n. 12, p. 1921, doi. 10.1002/humu.24449
    By:
    • Thomassen, Mads;
    • Mesman, Romy L. S.;
    • Hansen, Thomas V. O.;
    • Menendez, Mireia;
    • Rossing, Maria;
    • Esteban‐Sánchez, Ada;
    • Tudini, Emma;
    • Törngren, Therese;
    • Parsons, Michael T.;
    • Pedersen, Inge S.;
    • Teo, Soo H.;
    • Kruse, Torben A.;
    • Møller, Pål;
    • Borg, Åke;
    • Jensen, Uffe B.;
    • Christensen, Lise L.;
    • Singer, Christian F.;
    • Muhr, Daniela;
    • Santamarina, Marta;
    • Brandao, Rita
    Publication type:
    Article
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    Similar genetic profile in early and late stage urothelial tract cancer.

    Published in:
    Journal of Cancer Research & Clinical Oncology, 2024, v. 150, n. 7, p. 1, doi. 10.1007/s00432-024-05850-y
    By:
    • Stormoen, Dag Rune;
    • Rohrberg, Kristoffer Staal;
    • Mouw, Kent William;
    • Ørum, Katrine;
    • Szallasi, Zoltan;
    • Rossing, Maria;
    • Bagger, Frederik Otzen;
    • Pappot, Helle
    Publication type:
    Article
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    Survival and Long-Term Biochemical Cure in Medullary Thyroid Carcinoma in Denmark 1997–2014: A Nationwide Study.

    Published in:
    Thyroid, 2019, v. 29, n. 3, p. 368, doi. 10.1089/thy.2018.0564
    By:
    • Mathiesen, Jes Sloth;
    • Kroustrup, Jens Peter;
    • Vestergaard, Peter;
    • Stochholm, Kirstine;
    • Poulsen, Per Løgstrup;
    • Rasmussen, Åse Krogh;
    • Feldt-Rasmussen, Ulla;
    • Schytte, Sten;
    • Londero, Stefano Christian;
    • Pedersen, Henrik Baymler;
    • Hahn, Christoffer Holst;
    • Bentzen, Jens;
    • Möller, Sören;
    • Gaustadnes, Mette;
    • Rossing, Maria;
    • Nielsen, Finn Cilius;
    • Brixen, Kim;
    • Frederiksen, Anja Lisbeth;
    • Godballe, Christian
    Publication type:
    Article
    9

    Founder Effect of the RET<sup>C611Y</sup> Mutation in Multiple Endocrine Neoplasia 2A in Denmark: A Nationwide Study.

    Published in:
    Thyroid, 2017, v. 27, n. 12, p. 1505, doi. 10.1089/thy.2017.0404
    By:
    • Mathiesen, Jes Sloth;
    • Kroustrup, Jens Peter;
    • Vestergaard, Peter;
    • Stochholm, Kirstine;
    • Poulsen, Per Løgstrup;
    • Rasmussen, Åse Krogh;
    • Feldt-Rasmussen, Ulla;
    • Gaustadnes, Mette;
    • Ørntoft, Torben Falck;
    • Rossing, Maria;
    • Nielsen, Finn Cilius;
    • Albrechtsen, Anders;
    • Brixen, Kim;
    • Godballe, Christian;
    • Frederiksen, Anja Lisbeth
    Publication type:
    Article
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    Dihydropyrimidine dehydrogenase (DPD) genotype and phenotype among Danish cancer patients: prevalence and correlation between DPYD-genotype variants and P-uracil concentrations.

    Published in:
    2022
    By:
    • Paulsen, Niels Herluf;
    • Qvortrup, Camilla;
    • Vojdeman, Fie Juhl;
    • Plomgaard, Peter;
    • Andersen, Stig Ejdrup;
    • Ramlov, Anne;
    • Bertelsen, Birgitte;
    • Rossing, Maria;
    • Nielsen, Claus Gyrup;
    • Hoffmann-Lücke, Elke;
    • Greibe, Eva;
    • Spangsberg Holm, Hanne;
    • Nielsen, Heidi Hvid;
    • Lolas, Ihab Bishara Yousef;
    • Madsen, Jonna Skov;
    • Bergmann, Marianne Lerbaek;
    • Mørk, Morten;
    • Fruekilde, Palle B. Nielsen;
    • Bøttger, Pernille;
    • Petersen, Peter Clausager
    Publication type:
    Letter
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    A Danish national effort of BRCA1/2 variant classification.

    Published in:
    Acta Oncologica, 2018, v. 57, n. 1, p. 159, doi. 10.1080/0284186X.2017.1400693
    By:
    • Pedersen, Inge Søkilde;
    • Schmidt, Ane Y.;
    • Bertelsen, Birgitte;
    • Ernst, Anja;
    • Toft Andersen, Christian Liebst;
    • Kruse, Torben;
    • Rossing, Maria;
    • Thomassen, Mads
    Publication type:
    Article
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    Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant.

    Published in:
    Breast Cancer Research, 2024, v. 26, n. 1, p. 1, doi. 10.1186/s13058-023-01755-9
    By:
    • Block, Ines;
    • Mateu-Regué, Àngels;
    • Do, Thi Tuyet Nhu;
    • Miceikaite, Ieva;
    • Sdogati, Daniel;
    • Larsen, Martin J.;
    • Hao, Qin;
    • Nielsen, Henriette Roed;
    • Boonen, Susanne E.;
    • Skytte, Anne-Bine;
    • Jensen, Uffe Birk;
    • Høffding, Louise K.;
    • De Nicolo, Arcangela;
    • Viel, Alessandra;
    • Tudini, Emma;
    • Parsons, Michael T.;
    • Hansen, Thomas V. O.;
    • Rossing, Maria;
    • Kruse, Torben A.;
    • Spurdle, Amanda B.
    Publication type:
    Article
    18

    Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high frequency of cancer prone syndromes.

    Published in:
    PLoS Genetics, 2020, v. 16, n. 12, p. 1, doi. 10.1371/journal.pgen.1009231
    By:
    • Byrjalsen, Anna;
    • Hansen, Thomas V. O.;
    • Stoltze, Ulrik K.;
    • Mehrjouy, Mana M.;
    • Barnkob, Nanna Moeller;
    • Hjalgrim, Lisa L.;
    • Mathiasen, René;
    • Lautrup, Charlotte K.;
    • Gregersen, Pernille A.;
    • Hasle, Henrik;
    • Wehner, Peder S.;
    • Tuckuviene, Ruta;
    • Sackett, Peter Wad;
    • Laspiur, Adrian O.;
    • Rossing, Maria;
    • Marvig, Rasmus L.;
    • Tommerup, Niels;
    • Olsen, Tina Elisabeth;
    • Scheie, David;
    • Gupta, Ramneek
    Publication type:
    Article
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    Whole genome sequencing of breast cancer.

    Published in:
    APMIS, 2019, v. 127, n. 5, p. 303, doi. 10.1111/apm.12920
    By:
    • Rossing, Maria;
    • Sørensen, Claus Storgaard;
    • Ejlertsen, Bent;
    • Nielsen, Finn Cilius
    Publication type:
    Article
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    Detection and quantification of microRNA in cerebral microdialysate.

    Published in:
    Journal of Translational Medicine, 2015, v. 13, n. 1, p. 1, doi. 10.1186/s12967-015-0505-1
    By:
    • Bache, Søren;
    • Rasmussen, Rune;
    • Rossing, Maria;
    • Hammer, Niels Risør;
    • Juhler, Marianne;
    • Friis-Hansen, Lennart;
    • Nielsen, Finn Cilius;
    • Møller, Kirsten
    Publication type:
    Article
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    RET C611Y Germline Variant in Multiple Endocrine Neoplasia Type 2A in Denmark 1930–2021: A Nationwide Study.

    Published in:
    Cancers, 2025, v. 17, n. 3, p. 374, doi. 10.3390/cancers17030374
    By:
    • Hansen, Anders Würgler;
    • Vestergaard, Peter;
    • Poulsen, Morten Møller;
    • Rasmussen, Åse Krogh;
    • Feldt-Rasmussen, Ulla;
    • Madsen, Mette;
    • Næraa, Rune Weis;
    • Hansen, Dorte;
    • Main, Katharina;
    • Pedersen, Henrik Baymler;
    • Londero, Stefano Christian;
    • Rolighed, Lars;
    • Hahn, Christoffer Holst;
    • Rask, Klara Bay;
    • Maare, Christian;
    • Nielsen, Heidi Hvid;
    • Gaustadnes, Mette;
    • Rossing, Maria;
    • Hermann, Pernille;
    • Mathiesen, Jes Sloth
    Publication type:
    Article
    32

    Primary Hyperparathyroidism in Multiple Endocrine Neoplasia Type 2A in Denmark: A Nationwide Population-Based Retrospective Study in Denmark 1930–2021.

    Published in:
    Cancers, 2023, v. 15, n. 7, p. 2125, doi. 10.3390/cancers15072125
    By:
    • Holm, Magnus;
    • Vestergaard, Peter;
    • Poulsen, Morten Møller;
    • Rasmussen, Åse Krogh;
    • Feldt-Rasmussen, Ulla;
    • Bay, Mette;
    • Rolighed, Lars;
    • Londero, Stefano;
    • Pedersen, Henrik Baymler;
    • Hahn, Christoffer Holst;
    • Rask, Klara Bay;
    • Nielsen, Heidi Hvid;
    • Gaustadnes, Mette;
    • Rossing, Maria Caroline;
    • Hermann, Anne Pernille;
    • Godballe, Christian;
    • Mathiesen, Jes Sloth
    Publication type:
    Article
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    A Comparison of Tools for Copy-Number Variation Detection in Germline Whole Exome and Whole Genome Sequencing Data.

    Published in:
    Cancers, 2021, v. 13, n. 24, p. 6283, doi. 10.3390/cancers13246283
    By:
    • Gabrielaite, Migle;
    • Torp, Mathias Husted;
    • Rasmussen, Malthe Sebro;
    • Andreu-Sánchez, Sergio;
    • Vieira, Filipe Garrett;
    • Pedersen, Christina Bligaard;
    • Kinalis, Savvas;
    • Madsen, Majbritt Busk;
    • Kodama, Miyako;
    • Demircan, Gül Sude;
    • Simonyan, Arman;
    • Yde, Christina Westmose;
    • Olsen, Lars Rønn;
    • Marvig, Rasmus L.;
    • Østrup, Olga;
    • Rossing, Maria;
    • Nielsen, Finn Cilius;
    • Winther, Ole;
    • Bagger, Frederik Otzen
    Publication type:
    Article
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    Completeness of RET testing in patients with medullary thyroid carcinoma in Denmark 1997–2013: a nationwide study.

    Published in:
    Clinical Epidemiology, 2019, v. 11, p. 93, doi. 10.2147/CLEP.S183268
    By:
    • Mathiesen, Jes Sloth;
    • Kroustrup, Jens Peter;
    • Vestergaard, Peter;
    • Stochholm, Kirstine;
    • Poulsen, Per Løgstrup;
    • Rasmussen, Åse Krogh;
    • Feldt-Rasmussen, Ulla;
    • Schytte, Sten;
    • Londero, Stefano Christian;
    • Pedersen, Henrik Baymler;
    • Hahn, Christoffer Holst;
    • Bentzen, Jens;
    • Möller, Sören;
    • Gaustadnes, Mette;
    • Rossing, Maria;
    • Nielsen, Finn Cilius;
    • Brixen, Kim;
    • Frederiksen, Anja Lisbeth;
    • Godballe, Christian
    Publication type:
    Article
    37

    Incidence and prevalence of multiple endocrine neoplasia 2A in Denmark 1901–2014: a nationwide study.

    Published in:
    Clinical Epidemiology, 2018, v. 10, p. 1479, doi. 10.2147/CLEP.S174606
    By:
    • Mathiesen, Jes Sloth;
    • Kroustrup, Jens Peter;
    • Vestergaard, Peter;
    • Stochholm, Kirstine;
    • Poulsen, Per Løgstrup;
    • Rasmussen, Åse Krogh;
    • Feldt-Rasmussen, Ulla;
    • Schytte, Sten;
    • Pedersen, Henrik Baymler;
    • Hahn, Christoffer Holst;
    • Bentzen, Jens;
    • Möller, Sören;
    • Gaustadnes, Mette;
    • Rossing, Maria;
    • Nielsen, Finn Cilius;
    • Brixen, Kim;
    • Frederiksen, Anja Lisbeth;
    • Godballe, Christian
    Publication type:
    Article
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    MicroRNA-9-3p: a novel predictor of neurological outcome after cardiac arrest.

    Published in:
    European Heart Journal: Acute Cardiovascular Care, 2022, v. 11, n. 8, p. 609, doi. 10.1093/ehjacc/zuac066
    By:
    • Beske, Rasmus Paulin;
    • Bache, Søren;
    • Meyer, Martin Abild Stengaard;
    • Kjærgaard, Jesper;
    • Bro-Jeppesen, John;
    • Obling, Laust;
    • Olsen, Markus Harboe;
    • Rossing, Maria;
    • Nielsen, Finn Cilius;
    • Møller, Kirsten;
    • Nielsen, Niklas;
    • Hassager, Christian
    Publication type:
    Article
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    Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.

    Published in:
    Nucleic Acids Research, 2020, v. 48, n. 3, p. 1600, doi. 10.1093/nar/gkz1212
    By:
    • Leman, Raphaël;
    • Gaildrat, Pascaline;
    • Le Gac, Gérald;
    • Ka, Chandran;
    • Fichou, Yann;
    • Audrezet, Marie-Pierre;
    • Caux-Moncoutier, Virginie;
    • Caputo, Sandrine M;
    • Boutry-Kryza, Nadia;
    • Léone, Mélanie;
    • Mazoyer, Sylvie;
    • Bonnet-Dorion, Françoise;
    • Sevenet, Nicolas;
    • Guillaud-Bataille, Marine;
    • Rouleau, Etienne;
    • Bressac-de Paillerets, Brigitte;
    • Wappenschmidt, Barbara;
    • Rossing, Maria;
    • Muller, Danielle;
    • Bourdon, Violaine
    Publication type:
    Article
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