Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Theofanis Zagoras"'
Autor:
Theofanis Zagoras, Rahime Inci, Despoina Kantere, Peter Holmström, Jenny Broström, Martin Gillstedt, Sam Polesie, Sirkku Peltonen
Publikováno v:
Acta Dermato-Venereologica, Vol 103 (2023)
This retrospective registry-based cohort study aimed to estimate the incidence and prevalence of genodermatoses in the Swedish population and to analyse associated healthcare usage. Patients diagnosed with genodermatoses were identified from the pati
Externí odkaz:
https://doaj.org/article/bf5b8f79927d4fa48218755b66052144
Autor:
Rahime Inci, Theofanis Zagoras, Despoina Kantere, Peter Holmström, Martin Gillstedt, Sam Polesie, Sirkku Peltonen
Publikováno v:
Journal of the European Academy of Dermatology and Venereology. 37:420-427
Porokeratosis is a clinically heterogeneous group of keratinization disorders with a genetic background mainly affecting the mevalonate pathway, which is involved in the synthesis of cholesterol, an essential component for the formation of the extrac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c9b02f9cc0c8a7bb8e8793933bbf27e
https://doi.org/10.1111/jdv.18587
https://doi.org/10.1111/jdv.18587
Autor:
Alisa Olkinuora, Taina T. Nieminen, Emma Mårtensson, Anna Rohlin, Ari Ristimäki, Laura Koskenvuo, Anna Lepistö, Samuel Gebre-Medhin, Margareta Nordling, Päivi Peltomäki, Gustav Silander, Ekaterina Kuchinskaya, Christos Aravidis, Theofanis Zagoras, Mef Nilbert, Åke Borg
Publikováno v:
Genetics in Medicine. 21:1868-1873
Purpose: Some 10% of familial adenomatous polyposis (FAP) and 80% of attenuated polyposis (AFAP) cases remain molecularly unexplained. We scrutinized such cases by exome-wide and targeted methods to search for novel susceptibility genes. Methods: Exo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::079d1454d6fe6b88fd2dcf191d931433
https://doi.org/10.1038/s41436-018-0405-x
https://doi.org/10.1038/s41436-018-0405-x
Autor:
Daniel Bengtsson, Samuel Gebre-Medhin, Jenny von Salomé, Theofanis Zagoras, Marie Askmalm Stenmark, Ann Sofie Backman, Beatrice Melin, Patrick Joost, Christos Aravidis, Pia Burman
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 102:3928-3932
Context: Lynch syndrome (LS) is a cancer-predisposing syndrome caused by germline mutations in genes involved in DNA mismatch repair (MMR). Patients are at high risk for several types of cancer, but pituitary tumors have not previously been reported.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1843d40e01226ff14cfa992275b142e9
https://doi.org/10.1210/jc.2017-01401
https://doi.org/10.1210/jc.2017-01401
Autor:
Samuel Gebre-Medhin, Anders Kvist, Jan Björk, Anna Rohlin, Eva Rambech, Therese Törngren, Margareta Nordling, Åke Borg, Frida Eiengård, Theofanis Zagoras, Mef Nilbert, Ulf Lundstam
Publikováno v:
Familial Cancer
Rohlin, A, Rambech, E, Kvist, A, Törngren, T, Eiengård, F, Lundstam, U, Zagoras, T, Gebre-Medhin, S, Borg, Å, Björk, J, Nilbert, M & Nordling, M 2017, ' Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing ', Familial Cancer, vol. 16, no. 2, pp. 195-203 . https://doi.org/10.1007/s10689-016-9934-0
Rohlin, A, Rambech, E, Kvist, A, Törngren, T, Eiengård, F, Lundstam, U, Zagoras, T, Gebre-Medhin, S, Borg, Å, Björk, J, Nilbert, M & Nordling, M 2017, ' Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing ', Familial Cancer, vol. 16, no. 2, pp. 195-203 . https://doi.org/10.1007/s10689-016-9934-0
Hereditary syndromes causing colorectal cancer include both polyposis and non-polyposis syndromes. Overlapping phenotypes between the syndromes have been recognized and this make targeted molecular testing for single genes less favorable, instead the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56b5086cf2726ded227c7459c289b7e2
http://europepmc.org/articles/PMC5357488
http://europepmc.org/articles/PMC5357488
Autor:
Miriam Mints, Emil Andersson, Theofanis Zagoras, Maria Soller, Gerasimos Tzortzatos, Marie Stenmark Askmalm, Emma Tham, Annika Lindblom, Patrik Georgii-Hemming
Publikováno v:
Gynecologic Oncology. 138:717-722
Objective. Women with Lynch syndrome (LS) have up to a 60% lifetime risk of endometrial cancer (EC) and up to a 24% risk of ovarian cancer (OC). Gynecological surveillance is recommended, but the benefit and how it should be performed remain unclear.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b73d2a3c75c9a230e978375a4add2e4
https://doi.org/10.1016/j.ygyno.2015.07.016
https://doi.org/10.1016/j.ygyno.2015.07.016
Publikováno v:
European Journal of Medical Genetics. 58:111-115
Background Deletions including chromosome 15q24 have been delineated in recent years as a separate syndrome with phenotypic variability. Here we report a familial 15q24 deletion and further contribute to the phenotypic description of this syndrome. M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62d954a96dff8805ce0d3926eec3ab63
https://doi.org/10.1016/j.ejmg.2014.12.006
https://doi.org/10.1016/j.ejmg.2014.12.006
Autor:
Anna, Rohlin, Frida, Eiengård, Ulf, Lundstam, Theofanis, Zagoras, Staffan, Nilsson, Anders, Edsjö, Jan, Pedersen, Janhenry, Svensson, Stefan, Skullman, B Göran, Karlsson, Jan, Björk, Margareta, Nordling
Publikováno v:
Genes, Chromosomes & Cancer
Hereditary factors are thought to play a role in at least one third of patients with colorectal cancer (CRC) but only a limited proportion of these have mutations in known high‐penetrant genes. In a relatively large part of patients with a few or m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7ba845dce0bcbfbbcf9b90b9f134b2de
https://pubmed.ncbi.nlm.nih.gov/26493165
https://pubmed.ncbi.nlm.nih.gov/26493165
Autor:
Tommy Martinsson, Jan Wahlström, Leif Hultén, Staffan Nilsson, Theofanis Zagoras, Ulf Lundstam, Anna Rohlin, Göran Karlsson, Margareta Nordling
Publikováno v:
International Journal of Oncology
Somatic mutations in the POLE gene encoding the catalytic subunit of DNA polymerase epsilon have been found in sporadic colorectal cancers (CRCs) and are most likely of importance in tumour development and/or progression. Recently, families with domi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4125160d33174609568aa94123074872
https://pubmed.ncbi.nlm.nih.gov/24788313
https://pubmed.ncbi.nlm.nih.gov/24788313