Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Malene Lundsgaard"'
Autor:
Ulrik Kristoffer Stoltze, Mathis Hildonen, Thomas Van Overeem Hansen, Jon Foss-Skiftesvik, Anna Byrjalsen, Malene Lundsgaard, Laura Pignata, Karen Grønskov, Asuman Z Tumer, Kjeld Schmiegelow, Jesper Sune Brok, Karin A W Wadt
Publikováno v:
Stoltze, U K, Hildonen, M, Hansen, T V O, Foss-Skiftesvik, J, Byrjalsen, A, Lundsgaard, M, Pignata, L, Grønskov, K, Tumer, A Z, Schmiegelow, K, Brok, J S & Wadt, K A W 2023, ' Germline (epi)genetics reveals high predisposition in females : a 5-year, nationwide, prospective Wilms tumour cohort ', Journal of Medical Genetics . https://doi.org/10.1136/jmg-2022-108982
Background: Studies suggest that Wilms tumours (WT) are caused by underlying genetic (5%-10%) and epigenetic (2%-29%) mechanisms, yet studies covering both aspects are sparse.Methods: We performed prospective whole-genome sequencing of germline DNA i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51a1ba43d3f730b43d1c0cda88fb5d16
https://vbn.aau.dk/da/publications/fd07e57e-1ff3-4d35-988f-acaaa74ae55c
https://vbn.aau.dk/da/publications/fd07e57e-1ff3-4d35-988f-acaaa74ae55c
Autor:
Malene Djursby, Thomas van Overeem Hansen, Karin A. W. Wadt, Majbritt Busk Madsen, Lukas Adrian Berchtold, Charlotte Kvist Lautrup, Sara Markholt, Uffe Birk Jensen, Lotte Nylandsted Krogh, Malene Lundsgaard, Anne Marie Gerdes, Mef Nilbert, Christina Therkildsen
Publikováno v:
Djursby, M, Hansen, T V O, Wadt, K A W, Madsen, M B, Berchtold, L A, Lautrup, C K, Markholt, S, Jensen, U B, Krogh, L N, Lundsgaard, M, Gerdes, A M, Nilbert, M & Therkildsen, C 2022, ' Clinical implications of genetic testing in familial intermediate and late-onset colorectal cancer ', Human Genetics, vol. 141, no. 12, pp. 1925-1933 . https://doi.org/10.1007/s00439-022-02470-9
The genetic background of familial, late-onset colorectal cancer (CRC) (i.e., onset > age 50 years) has not been studied as thoroughly as other subgroups of familial CRC, and the proportion of families with a germline genetic predisposition to CRC re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d05a1a4599e157cef5c95df6ff64e5e2
https://pure.au.dk/portal/da/publications/clinical-implications-of-genetic-testing-in-familial-intermediate-and-lateonset-colorectal-cancer(b2eeb2a3-7f4e-4abd-8ba6-d33e667346f8).html
https://pure.au.dk/portal/da/publications/clinical-implications-of-genetic-testing-in-familial-intermediate-and-lateonset-colorectal-cancer(b2eeb2a3-7f4e-4abd-8ba6-d33e667346f8).html
Autor:
Kirsten Wølch Rasmussen, Michael B. Petersen, Malene Lundsgaard, Hans Christian Laugaard-Jacobsen, Anja Ernst, Inge Søkilde Pedersen, Vang Quy Le
Publikováno v:
Lundsgaard, M, Le, V Q, Ernst, A, Laugaard-Jacobsen, H C, Rasmussen, K, Pedersen, I S & Petersen, M B 2017, ' De novo KAT6B Mutation Identified with Whole-Exome Sequencing in a Girl with Say-Barber/Biesecker/Young-Simpson Syndrome ', Molecular Syndromology, vol. 8, no. 1, pp. 24-29 . https://doi.org/10.1159/000452258
Say-Barber/Biesecker/Young-Simpson syndrome (SBBYSS; OMIM 603736) is a rare syndrome with multiple congenital anomalies/malformations. The clinical diagnosis is usually based on a phenotype with a mask-like face and severe blepharophimosis and ptosis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82e6fde29b876cbddb1ac64158fd68d9
https://doi.org/10.1159/000452258
https://doi.org/10.1159/000452258
Autor:
Malene, Lundsgaard, Vang Q, Le, Anja, Ernst, Hans C, Laugaard-Jacobsen, Kirsten, Rasmussen, Inge S, Pedersen, Michael B, Petersen
Publikováno v:
Molecular syndromology. 8(1)
Say-Barber/Biesecker/Young-Simpson syndrome (SBBYSS; OMIM 603736) is a rare syndrome with multiple congenital anomalies/malformations. The clinical diagnosis is usually based on a phenotype with a mask-like face and severe blepharophimosis and ptosis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2a79504aa57f95cb95f5ec646c1a760a
https://pubmed.ncbi.nlm.nih.gov/28232779
https://pubmed.ncbi.nlm.nih.gov/28232779