Zobrazeno 1 - 10
of 139
pro vyhledávání: '"Tuupanen, S"'
Autor:
Lähteenoja, L. (Laura), Häkli, S. (Sanna), Tuupanen, S. (Sari), Kuismin, O. (Outi), Palosaari, T. (Tapani), Rahikkala, E. (Elisa), Falck, A. (Aura)
Background: Pathogenic variants in the CEP78 gene can present as atypical Usher syndrome or as retinitis pigmentosa. Here, we present a review of all reported cases of CEP78 variants in the literature to date and present a novel variant of CEP78, c.1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2423::afb9e2a827923a4e264c235e1c8fcb24
http://urn.fi/urn:nbn:fi-fe2022092159767
http://urn.fi/urn:nbn:fi-fe2022092159767
Autor:
Tuupanen, S1, Hänninen, U A1, Kondelin, J1, von Nandelstadh, P2, Cajuso, T1, Gylfe, A E1, Katainen, R1, Tanskanen, T1, Ristolainen, H1, Böhm, J3, Mecklin, J-P4, Järvinen, H5, Renkonen-Sinisalo, L5, Andersen, C L6, Taipale, M7, Taipale, J7, Vahteristo, P1, Lehti, K2, Pitkänen, E1, Aaltonen, L A1
Publikováno v:
British Journal of Cancer. 10/14/2014, Vol. 111 Issue 8, p1657-1662. 6p. 1 Diagram, 1 Chart, 1 Graph.
Autor:
Tuupanen, S.1, Karhu, A.1, Järvinen, H.2, Mecklin, J. P.3, Launonen, V.1, Aaltonen, L. A.1 lauri.aaltonen@helsinki.fi
Publikováno v:
Oncogene. 4/12/2007, Vol. 26 Issue 17, p2513-2517. 5p.
Autor:
Huttunen J, Carlsson E, Tiina Alitalo, Henrik Forsius, Lauronen L, Tuupanen S, R. Jalkanen, Lindh S, E.-M. Sankila
Publikováno v:
British Journal of Ophthalmology. 89:820-824
Aim: To perform genealogical and clinical studies in Finnish families with X linked ocular albinism (OA1), including characterisation of the potential misrouting of optic fibres by evaluating visual evoked magnetic fields (VEFs), and to determine the
Autor:
Lehtonen HJ, Sipponen T, Tojkander S, Karikoski R, Jxe4rvinen H, Laing NG, Lappalainen P, Aaltonen LA & Tuupanen S
Publikováno v:
Gastroenterology.
Publikováno v:
African Journal of Medicine and Medical Sciences.
Autor:
Dunlop MG, Tenesa A, Farrington SM, Ballereau S, Brewster DH, Kossler T, Pharoah P, Schafmayer C, Hampe J, Vxf6lzke H, Chang-Claude J, Hoffmeister M, Brenner H, von Holst S, Picelli S, Lindblom A, Jenkins MA, Hopper JL, Casey G, Duggan D, Newcomb PA, Abulıxb4 A, Bessa X, Ruiz-Ponte C, Castellvıxb4-Bel S, Niittymxe4ki I, Tuupanen S, Karhu A, Aaltonen L, Zanke B, Hudson T, Gallinger S, Barclay E, Martin L, Gorman M, Carvajal-Carmona L, Walther A, Kerr D, Lubbe S, Broderick P, Chandler I, Pittman A, Penegar S, Campbel
Publikováno v:
Gut.
Autor:
Alhopuro P, Sammalkorpi H, Niittymxe4ki I, Bistrxf6m M, Raitila A, Saharinen J, Nousiainen K, Lehtonen HJ, Helixf6vaara E, Puhakka J, Tuupanen S, Sousa S, Seruca R, Ferreira AM, Hofstra RMW, Mecklin JP, Jxe4rvinen H, Ristimxe4ki A, xd8rntoft TF, Hautaniemi S, Arango D, Karhu A & Aaltonen LA.
Publikováno v:
International Journal of Cancer.
Autor:
Houlston, RS, Webb, E, Broderick, P, Pittman, AM, Di Bernardo, MC, Lubbe, S, Chandler, I, Vijayakrishnan, J, Sullivan, K, Penegar, S, Carvajal-Carmona, L, Howarth, K, Jaeger, E, Spain, SL, Walther, A, Barclay, E, Martin, L, Gorman, M, Domingo, E, Teixeira, AS, Kerr, D, Cazier, J-B, Niittymaki, I, Tuupanen, S, Karhu, A, Aaltonen, LA, Tomlinson, IPM, Farrington, SM, Tenesa, A, Prendergast, JGD, Barnetson, RA, Cetnarskyj, R, Porteous, ME, Pharoah, PDP, Koessler, T, Hampe, J, Buch, S, Schafmayer, C, Tepel, J, Schreiber, S, Voelzke, H, Chang-Claude, J, Hoffmeister, M, Brenner, H, Zanke, BW, Montpetit, A, Hudson, TJ, Gallinger, S, Campbell, H, Dunlop, MG, Study, COGENT, Consor, CCAS, Consortium, C, Assoc, ICCG
Publikováno v:
Houlston, R S, Webb, E, Broderick, P, Pittman, A M, Di Bernardo, M C, Lubbe, S, Chandler, I, Vijayakrishnan, J, Sullivan, K, Penegar, S, Carvajal-Carmona, L, Howarth, K, Jaeger, E, Spain, S L, Walther, A, Barclay, E, Martin, L, Gorman, M, Domingo, E, Teixeira, A S, Kerr, D, Cazier, J-B, Niittymäki, I, Tuupanen, S, Karhu, A, Aaltonen, L A, Tomlinson, I P M, Farrington, S M, Tenesa, A, Prendergast, J, Barnetson, R A, Cetnarskyj, R, Porteous, M E, Pharoah, P D P, Koessler, T, Hampe, J, Buch, S, Schafmayer, C, Tepel, J, Schreiber, S, Völzke, H, Chang-Claude, J, Hoffmeister, M, Brenner, H, Zanke, B W, Montpetit, A, Hudson, T J, Gallinger, S & Campbell, H & Dunlop, M G 2008, ' Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer ', Nature Genetics, vol. 40, no. 12, pp. 1426-1435 . https://doi.org/10.1038/ng.262
Genome-wide association (GWA) studies have identified multiple loci at which common variants modestly influence the risk of developing colorectal cancer (CRC). To enhance power to identify additional loci with similar effect sizes, we conducted a met
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47660374a8e3ff9232a78e7b9d0741c6
https://www.pure.ed.ac.uk/ws/files/8326424/Meta_analysis_of_genome_wide_association_data_identifies_four_new_susceptibility_loci_for_colorectal_cancer.pdf
https://www.pure.ed.ac.uk/ws/files/8326424/Meta_analysis_of_genome_wide_association_data_identifies_four_new_susceptibility_loci_for_colorectal_cancer.pdf
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.