Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Reetta-Stiina Järvinen"'
Autor:
Perttu J. Liuska, Abdessallam Tadji, Pauliina Repo, Juho Hiltunen, Michael Backlund, Reetta‐Stiina Järvinen, Eeva Ojanen, Anna Majander, Tero T. Kivelä, Mika Harju, Joni A. Turunen
Publikováno v:
Acta Ophthalmologica.
Autor:
Reetta-Stiina Järvinen, Aino Jaakkola, Pauliina Repo, Tero Kivelä, Joni A. Turunen, Petri J. Järventausta
Publikováno v:
European Journal of Ophthalmology. 32:NP61-NP66
Introduction: We describe the phenotype of a variant lattice corneal dystrophy (LCD) potentially caused by a novel variant c.1772C>T p.(Ser591Phe) in exon 13 of the transforming growth factor beta-induced (TGFBI) gene. Case report: The proband, a 71-
Autor:
Joni A. Turunen, Tero Kivelä, Johannes E. Jäntti, Virpi Raivio, Reetta-Stiina Järvinen, Elina S. Rantala, Martin Täll, Pauliina Repo
Publikováno v:
Pigment Cell & Melanoma Research. 33:756-762
Uveal melanoma (UM) is a rare intraocular cancer with the highest incidence in northern latitudes. Metastases develop in approximately 50% of patients, whereafter the median survival is 13 months. Generally, the mutation burden of these tumors is low
Autor:
Sabita Kawan, Minna H Vesaluoma, Pauliina Repo, Aino Jaakkola, Joni A. Turunen, Reetta-Stiina Järvinen, Tero Kivelä, Anna Korsbäck, Olli Ala-Fossi, Anna Majander, Annamari T. Immonen
Publikováno v:
American Journal of Ophthalmology. 213:217-225
Purpose To apply in vivo corneal confocal microscopy (IVCM) to study the pathogenesis of keratitis (keratoendotheliitis) fugax hereditaria, an autosomal dominant cryopyrin-associated periodic keratitis, associated with the c.61G>C pathogenic variant
Autor:
Aino Maaria, Jaakkola, Petri J, Järventausta, Reetta-Stiina, Järvinen, Pauliina, Repo, Tero T, Kivelä, Joni A, Turunen
Publikováno v:
European journal of ophthalmology. 32(4)
We describe the phenotype of a variant lattice corneal dystrophy (LCD) potentially caused by a novel variant c.1772CT p.(Ser591Phe) in exon 13 of the transforming growth factor beta-inducedThe proband, a 71-year-old woman referred because of bilatera
Autor:
Tero Kivelä, Pauliina Repo, Pekka Ellonen, Maarjaliis Paavo, Eeva-Marja Sankila, Joni A. Turunen, Reetta-Stiina Järvinen
Publikováno v:
Clinical geneticsREFERENCES. 99(1)
Conventional next-generation sequencing methods, used in most gene panels, cannot separate maternally and paternally derived sequence information of distant variants. In recessive diseases, two or more equally plausible causative variants with unsolv
Autor:
Tero Kivelä, Joni A. Turunen, Perttu J. Liuska, Mika Harju, Pauliina Repo, Reetta-Stiina Järvinen, Abdessallam Tadji
Publikováno v:
Acta Ophthalmologica. 97
Autor:
Anna Majander, Annamari T. Immonen, Tero Kivelä, Joni A. Turunen, Pauliina Repo, Aino Jaakkola, Sabita Kawan, Minna H Vesaluoma, Anna Korsbäck, Reetta-Stiina Järvinen
Publikováno v:
Acta Ophthalmologica. 97
Autor:
Tero Kivelä, Johannes E. Jäntti, Virpi Raivio, Joni A. Turunen, Martin Täll, Reetta-Stiina Järvinen, Salla Markkinen, Pauliina Repo
Publikováno v:
Human molecular genetics. 28(14)
Pathogenic germline variants in the BRCA1-associated protein 1 (BAP1) gene cause the BAP1 tumor predisposition syndrome (BAP1-TPDS) with increased risk of several cancers, the most frequent of which is uveal melanoma (UM). Pathogenicity of loss-of-fu
Autor:
Carla Daniela Robles-Espinoza, Hilary Racher, Luca Mastracci, Robert Pilarski, Frederick H. Davidorf, Saleem Taibjee, William Glasson, Martine J. Jager, Jo Burke, Ivana K. Kim, Lisa Golmard, Rajmohan Murali, Hayley Hamilton, Giulia Ciccarese, Jane M. Palmer, Madeleine Howlie, Arnaud de la Fouchardière, David J. Adams, Tero Kivelä, Sonika Dahiya, Peter Johansson, Lorenza Pastorino, Sebastian Walpole, Annelies de Klein, Bruna Dalmasso, Anne Marie Lane, Marina Marinkovic, William Bruno, Judith Symmons, Sonja Klebe, Julia Newton-Bishop, Marc-Henri Stern, Michael R. Speicher, Joni A. Turunen, Colleen M. Cebulla, Dominique Stoppa-Lyonnet, Carsten Bergmann, Hildur Helgadottir, Mohamed H. Abdel-Rahman, S.J. O’Shea, Meredith Stautberg, Ching-Ni Njauw, Jens Folke Kiilgaard, Pauliina Repo, Erin M. Garfield, Paola Queirolo, Rana'a T. Al-Jamal, Remco van Doorn, Antonia L. Pritchard, Gregorius P M Luyten, Michael L. Nickerson, Mitchell Cheung, Pedram Gerami, Miriam Potrony, Paola Ghiorzo, Odile Cabaret, Julian Adlard, Veronica Höiom, Hensin Tsao, Cindy Chau, J. William Harbour, Irma Dianzani, Joseph R. Testa, Brigitte Bressac-de Paillerets, Sunil K Warrier, Maartje Nielsen, Marta Betti, Susana Puig, Emine Kilic, Sandro Santagata, Karin Wadt, Nicholas K. Hayward, Virginia Andreotti, Raul Ossio, Natasha M. van Poppelen, Nicola K. Poplawski, Reetta Stiina Järvinen
Publikováno v:
JNCI: Journal of the National Cancer Institute, 110(12), 1328-1341
Journal of the National Cancer Institute, 110(12):djy171, 1328-1341. Oxford University Press
Journal of the National Cancer Institute, 110(12):djy171, 1328-1341. Oxford University Press
BACKGROUND: The BRCA1-associated protein-1 (BAP1) tumor predisposition syndrome (BAP1-TPDS) is a hereditary tumor syndrome caused by germline pathogenic variants in BAP1 encoding a tumor suppressor associated with uveal melanoma, mesothelioma, cutane
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1e00d5ee926817375585c9402cd2da2
https://doi.org/10.1093/jnci/djy171
https://doi.org/10.1093/jnci/djy171