Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Katrine S. Aagaard"'
Autor:
Katrine S. Aagaard, Klaus Brusgaard, Ieva Miceikaite, Martin J. Larsen, Anette D. Kjeldsen, Emilie B. Lester, Lilian B. Ousager, Pernille M. Tørring
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 11, Pp n/a-n/a (2020)
ABSTRACT Background Patients with germline variants in SMAD4 can present symptoms of both juvenile polyposis syndrome (JPS) and Hereditary Hemorrhagic Telangiectasia (HHT): JP‐HHT syndrome. Next‐Generation Sequencing (NGS) techniques disclose cau
Externí odkaz:
https://doaj.org/article/f725ae3adc49493f95c49b3543b04589
Autor:
Lilian Bomme Ousager, Anette Drøhse Kjeldsen, Katrine S. Aagaard, Martin Jakob Larsen, Klaus Brusgaard, Emilie B. Lester, Pernille Mathiesen Tørring, Ieva Miceikaite
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 11, Pp n/a-n/a (2020)
Aagaard, K S, Brusgaard, K, Miceikaite, I, Larsen, M J, Kjeldsen, A D, Lester, E B, Ousager, L B & Tørring, P M 2020, ' Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia ', Molecular Genetics and Genomic Medicine, vol. 8, no. 11, e1498 . https://doi.org/10.1002/mgg3.1498
Molecular Genetics & Genomic Medicine
Aagaard, K S, Brusgaard, K, Miceikaite, I, Larsen, M J, Kjeldsen, A D, Lester, E B, Ousager, L B & Tørring, P M 2020, ' Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia ', Molecular Genetics and Genomic Medicine, vol. 8, no. 11, e1498 . https://doi.org/10.1002/mgg3.1498
Molecular Genetics & Genomic Medicine
Background Patients with germline variants in SMAD4 can present symptoms of both juvenile polyposis syndrome (JPS) and Hereditary Hemorrhagic Telangiectasia (HHT): JP‐HHT syndrome. Next‐Generation Sequencing (NGS) techniques disclose causative se
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61fcfc12b56672a105be32f086b1ebb6
https://doaj.org/article/f725ae3adc49493f95c49b3543b04589
https://doaj.org/article/f725ae3adc49493f95c49b3543b04589
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-9 (2018)
Aagaard, K S, Kjeldsen, A D, Tørring, P M & Green, A 2018, ' Comorbidity among HHT patients and their controls in a 20 years follow-up period ', Orphanet Journal of Rare Diseases, vol. 13, 223 . https://doi.org/10.1186/s13023-018-0962-8
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-9 (2018)
Aagaard, K S, Kjeldsen, A D, Tørring, P M & Green, A 2018, ' Comorbidity among HHT patients and their controls in a 20 years follow-up period ', Orphanet Journal of Rare Diseases, vol. 13, 223 . https://doi.org/10.1186/s13023-018-0962-8
Background Hereditary Haemorrhagic Telangiectasia (HHT) is an autosomal dominant genetic disorder with a wide variety of clinical manifestations due to the presence of multiple arteriovenous malformations in various tissues and organs. Objective To s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f482c4eed80072a9a770066f39daa5b3
http://europepmc.org/articles/PMC6295040
http://europepmc.org/articles/PMC6295040
Autor:
Gunnhildur Asta Traustadottir, Suganya Ganesalingam, Søren P. Sheikh, Charlotte Harken Jensen, Katrine S. Aagaard, Ditte Caroline Andersen, Ida Skovrind, Rikke Helin Johnsen
Publikováno v:
Andersen, D C, Jensen, C H, Skovrind, I, Johnsen, R H, Traustadottir, G A, Aagaard, K S, Ganesalingam, S & Sheikh, S P 2016, ' Neonatal epicardial-derived progenitors aquire myogenic traits in skeletal muscle, but not cardiac muscle ', International Journal of Cardiology, vol. 222, pp. 448-456 . https://doi.org/10.1016/j.ijcard.2016.07.165
BACKGROUND/OBJECTIVES: Epicardium-derived progenitor cells (EPDCs) differentiate into all heart cell types in the embryonic heart, yet their differentiation into cardiomyocytes in the adult heart is limited and poorly described. This may be due to EP
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99577f86dd7af4fcae0750549b80c149
https://pubmed.ncbi.nlm.nih.gov/27505332
https://pubmed.ncbi.nlm.nih.gov/27505332
Autor:
Søren P. Sheikh, Katrine S. Aagaard, Ditte Caroline Andersen, Charlotte Harken Jensen, Suganya Ganesalingam
Publikováno v:
Aagaard, K S, Ganesalingam, S, Jensen, C H, Sheikh, S P & Andersen, D C 2013, ' Poor engraftment potential of epicardial progenitors upon intramyocardial transplantation into the neonatal mouse heart ', International Journal of Cardiology, vol. 168, no. 4, pp. 4360-4362 . https://doi.org/10.1016/j.ijcard.2013.05.061
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::499423d9965eda723b855ff1aa4088dd
https://portal.findresearcher.sdu.dk/da/publications/9881f33f-1e1c-4945-a08c-be6c66e46b4a
https://portal.findresearcher.sdu.dk/da/publications/9881f33f-1e1c-4945-a08c-be6c66e46b4a
Autor:
Pernille Mathiesen Tørring, Anette Drøhse Kjeldsen, Anders Green, Katrine S. Aagaard, Sören Möller
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 11, Iss 1, Pp 1-8 (2016)
Kjeldsen, A, Aagaard, K S, Tørring, P M, Möller, S & Green, A 2016, ' 20-year follow-up study of Danish HHT patients-survival and causes of death ', Orphanet Journal of Rare Diseases, vol. 11, 157, pp. 1-8 . https://doi.org/10.1186/s13023-016-0533-9
Orphanet Journal of Rare Diseases
Kjeldsen, A, Aagaard, K S, Tørring, P M, Möller, S & Green, A 2016, ' 20-year follow-up study of Danish HHT patients-survival and causes of death ', Orphanet Journal of Rare Diseases, vol. 11, 157, pp. 1-8 . https://doi.org/10.1186/s13023-016-0533-9
Orphanet Journal of Rare Diseases
Background Hereditary Haemorrhagic Telangiectasia (HHT) is a dominantly inheritable disorder, with a wide variety of clinical manifestations due to presence of multiple arteriovenous manifestations. The most common mutations are found in HHT1 (ENG) a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::becc8577d7331aba76731701549458bf