المؤلفون: Liuska, Perttu J., Tadji, Abdessallam, Repo, Pauliina, Hiltunen, Juho, Backlund, Michael, Jarvinen, Reetta-Stiina, Ojanen, Eeva, Majander, Anna, Kivelä, Tero T., Harju, Mika, Turunen, Joni A.

المساهمون: Medicum, HUS Head and Neck Center, Silmäklinikka, Clinicum

مصطلحات موضوعية: Foxc1, Ltbp2, Myoc, Juvenile open-angle glaucoma, Myocilin, 3125 Otorhinolaryngology, ophthalmology

وصف الملف: application/pdf

العلاقة: Evald ja Hilda Nissin Saatio; Glaukooma Tukisaatio Lux; Mary och Georg C. Ehrnrooths Stiftelse; Suomen Laaketieteen Saatio; Liuska , P J , Tadji , A , Repo , P , Hiltunen , J , Backlund , M , Jarvinen , R-S , Ojanen , E , Majander , A , Kivelä , T T , Harju , M & Turunen , J A 2023 , ' Analysis of glaucoma genes in Finnish patients with juvenile open-angle glaucoma ' , Acta Ophthalmologica , vol. 101 , no. 7 , pp. 797-806 . https://doi.org/10.1111/aos.15670Test; ORCID: /0000-0002-9569-9146/work/147913362; ORCID: /0000-0002-9257-9376/work/147917239; ORCID: /0000-0002-3327-5276/work/147918761; aa61f50e-3cc2-4f5b-b88f-84d29163a267; http://hdl.handle.net/10138/567784Test; 000966404800001

الإتاحة: http://hdl.handle.net/10138/567784Test

المؤلفون: Turunen, Joni A., Tuisku, Ilpo S., Repo, Pauliina, Mörtenhumer, Sanna, Kawan, Sabita, Järvinen, Reetta‐Stiina, Korsbäck, Anna, Immonen, Annamari T., Kivelä, Tero T.

المصدر: Acta Ophthalmologica (1755375X); May2024, Vol. 102 Issue 3, p296-305, 10p

مصطلحات موضوعية: DYSTROPHY, EROSION, BASAL lamina, GENEALOGY, VISUAL acuity

مصطلحات جغرافية: SWEDEN

المؤلفون: Jaakkola, Aino Maaria, Järventausta, Petri J, Järvinen, Reetta-Stiina, Repo, Pauliina, Kivelä, Tero T, Turunen, Joni A

المصدر: European Journal of Ophthalmology; Jul2022, Vol. 32 Issue 4, pNP61-NP66, 6p

المؤلفون: Jaakkola, Aino Maaria, Järventausta, Petri J, Järvinen, Reetta-Stiina, Repo, Pauliina, Kivelä, Tero T, Turunen, Joni A

المصدر: European Journal of Ophthalmology; July 2022, Vol. 32 Issue: 4 pNP61-NP66, 6p

المؤلفون: Walpole, Sebastian, Pritchard, Antonia L, Cebulla, Colleen M, Pilarski, Robert, Stautberg, Meredith, Davidorf, Frederick H, de la Fouchardière, Arnaud, Cabaret, Odile, Golmard, Lisa, Stoppa-Lyonnet, Dominique, Garfield, Erin, Njauw, Ching-Ni, Cheung, Mitchell, Turunen, Joni A, Repo, Pauliina, Järvinen, Reetta-Stiina, van Doorn, Remco, Jager, Martine J, Luyten, Gregorius P M, Marinkovic, Marina, Chau, Cindy, Potrony, Miriam, Höiom, Veronica, Helgadottir, Hildur, Pastorino, Lorenza, Bruno, William, Andreotti, Virginia, Dalmasso, Bruna, Ciccarese, Giulia, Queirolo, Paola, Mastracci, Luca, Wadt, Karin, Kiilgaard, Jens Folke, Speicher, Michael R, van Poppelen, Natasha, Kilic, Emine, Al-Jamal, Rana'a T, Dianzani, Irma, Betti, Marta, Bergmann, Carsten, Santagata, Sandro, Dahiya, Sonika, Taibjee, Saleem, Burke, Jo, Poplawski, Nicola, O'Shea, Sally J, Newton-Bishop, Julia, Adlard, Julian, Adams, David J, Lane, Anne-Marie, Kim, Ivana, Klebe, Sonja, Racher, Hilary, Harbour, J William, Nickerson, Michael L, Murali, Rajmohan, Palmer, Jane M, Howlie, Madeleine, Symmons, Judith, Hamilton, Hayley, Warrier, Sunil, Glasson, William, Johansson, Peter, Robles-Espinoza, Carla Daniela, Ossio, Raul, de Klein, Annelies, Puig, Susana, Ghiorzo, Paola, Nielsen, Maartje, Kivelä, Tero T, Tsao, Hensin, Testa, Joseph R, Gerami, Pedram, Stern, Marc-Henri, Paillerets, Brigitte Bressac-de, Abdel-Rahman, Mohamed H, Hayward, Nicholas K

المساهمون: Walpole, Sebastian, Pritchard, Antonia L, Cebulla, Colleen M, Pilarski, Robert, Stautberg, Meredith, Davidorf, Frederick H, de la Fouchardière, Arnaud, Cabaret, Odile, Golmard, Lisa, Stoppa-Lyonnet, Dominique, Garfield, Erin, Njauw, Ching-Ni, Cheung, Mitchell, Turunen, Joni A, Repo, Pauliina, Järvinen, Reetta-Stiina, van Doorn, Remco, Jager, Martine J, Luyten, Gregorius P M, Marinkovic, Marina, Chau, Cindy, Potrony, Miriam, Höiom, Veronica, Helgadottir, Hildur, Pastorino, Lorenza, Bruno, William, Andreotti, Virginia, Dalmasso, Bruna, Ciccarese, Giulia, Queirolo, Paola, Mastracci, Luca, Wadt, Karin, Kiilgaard, Jens Folke, Speicher, Michael R, van Poppelen, Natasha, Kilic, Emine, Al-Jamal, Rana'a T, Dianzani, Irma, Betti, Marta, Bergmann, Carsten, Santagata, Sandro, Dahiya, Sonika, Taibjee, Saleem, Burke, Jo, Poplawski, Nicola, O'Shea, Sally J, Newton-Bishop, Julia, Adlard, Julian, Adams, David J, Lane, Anne-Marie, Kim, Ivana, Klebe, Sonja, Racher, Hilary, Harbour, J William, Nickerson, Michael L, Murali, Rajmohan, Palmer, Jane M, Howlie, Madeleine, Symmons, Judith, Hamilton, Hayley, Warrier, Sunil, Glasson, William, Johansson, Peter, Robles-Espinoza, Carla Daniela, Ossio, Raul, de Klein, Annelie, Puig, Susana, Ghiorzo, Paola, Nielsen, Maartje, Kivelä, Tero T, Tsao, Hensin, Testa, Joseph R, Gerami, Pedram, Stern, Marc-Henri, Paillerets, Brigitte Bressac-de, Abdel-Rahman, Mohamed H, Hayward, Nicholas K

مصطلحات موضوعية: Age of Onset, Allele, Female, Gene Frequency, Genotype, Human, Male, Neoplastic Syndromes, Hereditary, Phenotype, Risk Assessment, Tumor Suppressor Protein, Ubiquitin Thiolesterase, Genetic Association Studie, Genetic Predisposition to Disease, Germ-Line Mutation

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30517737; info:eu-repo/semantics/altIdentifier/wos/WOS:000455209700007; volume:110; issue:12; firstpage:1328; lastpage:1341; numberofpages:14; journal:JOURNAL OF THE NATIONAL CANCER INSTITUTE; http://hdl.handle.net/11579/134799Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85058870474

الإتاحة: https://doi.org/10.1093/jnci/djy171Test
http://hdl.handle.net/11579/134799Test

المؤلفون: Repo, Pauliina^1,2 (AUTHOR) pauliina.e.repo@hus.fi, Järvinen, Reetta‐Stiina² (AUTHOR), Sankila, Eeva‐Marja¹ (AUTHOR), Paavo, Maarjaliis¹ (AUTHOR), Ellonen, Pekka³ (AUTHOR), Kivelä, Tero T.¹ (AUTHOR), Turunen, Joni A.^1,2 (AUTHOR)

المصدر: Clinical Genetics. Jan2021, Vol. 99 Issue 1, p193-198. 6p.

مصطلحات موضوعية: *RETINAL degeneration, *NUCLEOTIDE sequencing, *HAPLOTYPES, *RECESSIVE genes, *GENETIC testing, *RETINITIS pigmentosa, *EXOMES

المؤلفون: Repo, Pauliina, Jäntti, Johannes E., Järvinen, Reetta‐Stiina, Rantala, Elina S., Täll, Martin, Raivio, Virpi, Kivelä, Tero T., Turunen, Joni A.

المصدر: Pigment Cell & Melanoma Research; Sep2020, Vol. 33 Issue 5, p756-762, 7p

مصطلحات موضوعية: UVEA, IMMUNE checkpoint inhibitors, GERM cells, CYCLIN-dependent kinase inhibitor-2A, PROGRAMMED cell death 1 receptors, MELANOMA

المؤلفون: Repo, Pauliina, Järvinen, Reetta-Stiina, Jäntti, Johannes E, Markkinen, Salla, Täll, Martin, Raivio, Virpi, Turunen, Joni A, Kivelä, Tero T

المصدر: Human Molecular Genetics; 7/15/2019, Vol. 28 Issue 14, p2415-2426, 12p

المؤلفون: Repo, Pauliina, Salminen, Eveliina, Järvinen, Reetta‐Stiina, Hiltunen, Juho, Al‐Jamal, Rana'a, Täll, Martin, Raivio, Virpi, Kivelä, Tero, Turunen, Joni

المصدر: Acta Ophthalmologica (1755375X); 2022 Supplement 275, Vol. 100, pN.PAG-N.PAG, 1p

مصطلحات موضوعية: CANCER genes, GERM cells, GENETIC counseling, FAMILY history (Medicine), MELANOMA, BRAF genes

المؤلفون: Liuska, Perttu, Tadji, Abdesallam, Repo, Pauliina, Hiltunen, Juho, Backlund, Michael, Järvinen, Reetta‐Stiina, Ojanen, Eeva, Majander, Anna, Kivelä, Tero, Harju, Mika, Turunen, Joni

المصدر: Acta Ophthalmologica (1755375X); 2022 Supplement 275, Vol. 100, pN.PAG-N.PAG, 1p

مصطلحات موضوعية: OPEN-angle glaucoma, GLAUCOMA, INTRAOCULAR pressure, GENETIC variation, GENES, PATIENTS' families

مصطلحات جغرافية: FINLAND