المؤلفون: Hitti-Malin, Rebekkah, Panneman, Daan, Corradi, Zelia, Boonen, Erica, Astuti, Galuh, Dhaenens, Claire-Marie, Stöhr, Heidi, Weber, Bernhard, Sharon, Dror, Banin, Eyal, Karali, Marianthi, Banfi, Sandro, Ben-Yosef, Tamar, Glavač, Damjan, Farrar, G, Ayuso, Carmen, Liskova, Petra, Dudakova, Lubica, Vajter, Marie, Ołdak, Monika, Szaflik, Jacek, Matynia, Anna, Gorin, Michael, Kämpjärvi, Kati, Bauwens, Miriam, De Baere, Elfride, Hoyng, Carel, Li, Catherina, Klaver, Caroline, Inglehearn, Chris, Fujinami, Kaoru, Rivolta, Carlo, Allikmets, Rando, Zernant, Jana, Lee, Winston, Podhajcer, Osvaldo, Fakin, Ana, Sajovic, Jana, AlTalbishi, Alaa, Valeina, Sandra, Taurina, Gita, Vincent, Andrea, Roberts, Lisa, Ramesar, Raj, Sartor, Giovanna, Luppi, Elena, Downes, Susan, van den Born, L, McLaren, Terri, De Roach, John, Lamey, Tina, Thompson, Jennifer, Chen, Fred, Tracewska, Anna, Kamakari, Smaragda, Sallum, Juliana, Bolz, Hanno, Kayserili, Hülya, Roosing, Susanne, Cremers, Frans

المصدر: Biomolecules. 14(3)

مصطلحات موضوعية: inherited, macula, maculopathies, penetrance, retinal, sequencing, Humans, Mutation, Penetrance, Pedigree, Macular Degeneration, Retina, Phenotype, ATP-Binding Cassette Transporters, Eye Proteins, Cadherin Related Proteins, Nerve Tissue Proteins

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/00w3d2bqTest

المؤلفون: Koskinen, Lotta, Andreevskaya, Margarita, Muona, Mikko, Pietila, Tuuli, Djupsjöbacka, Janica, Kytölä, Ville, Kämpjärvi, Kati, Myllykangas, Samuel, Salmenperä, Pertteli, Koskenvuo, Juha, Valori, Miko

المصدر: Genetics in Medicine Open ; volume 2, page 101532 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2024.101532Test
https://api.elsevier.com/content/article/PII:S2949774424006782?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774424006782?httpAccept=text/plainTest

المؤلفون: Corradi, Zelia, Khan, Mubeen, Hitti-Malin, Rebekkah, Mishra, Ketan, Whelan, Laura, Cornelis, Stéphanie S., Hoyng, Carel B., Kämpjärvi, Kati, Klaver, Caroline C.W., Liskova, Petra, Stöhr, Heidi, Weber, Bernhard H.F., Banfi, Sandro, Farrar, G. Jane, Sharon, Dror, Zernant, Jana, Allikmets, Rando, Dhaenens, Claire Marie, Cremers, Frans P.M.

المصدر: Corradi , Z , Khan , M , ABCA4-Study Group , Hitti-Malin , R , Mishra , K , Whelan , L , Cornelis , S S , Hoyng , C B , Kämpjärvi , K , Klaver , C C W , Liskova , P , Stöhr , H , Weber , B H F , Banfi , S , Farrar , G J , Sharon , D , Zernant , J , Allikmets , R , Dhaenens , C M & Cremers , F P M 2023 , ' Targeted sequencing and in vitro splice assays shed ....

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/68836560-b1e8-499d-b054-711b76f7c651Test

الإتاحة: https://doi.org/10.1016/j.xhgg.2023.100237Test
https://pure.eur.nl/en/publications/68836560-b1e8-499d-b054-711b76f7c651Test
https://pure.eur.nl/ws/files/102083416/Targeted_sequencing_and_in_vitro_splice_assays_shed_light_on_ABCA4-associated_retinopathies_missing_heritability.pdfTest
http://www.scopus.com/inward/record.url?scp=85171982571&partnerID=8YFLogxKTest

المؤلفون: Ahvenainen, Terhi, Kaukomaa, Jaana, Kämpjärvi, Kati, Uimari, Outi, Ahtikoski, Anne, Mäkinen, Netta, Heikinheimo, Oskari, Aaltonen, Lauri A., Karhu, Auli, Bützow, Ralf, Vahteristo, Pia

المساهمون: Digital Precision Cancer Medicine (iCAN), ATG - Applied Tumor Genomics, Medicum, Department of Medical and Clinical Genetics, Research Programs Unit, HUS Gynecology and Obstetrics, Clinicum, Department of Obstetrics and Gynecology, Lauri Antti Aaltonen / Principal Investigator, HUSLAB, Department of Pathology, Biosciences

مصطلحات موضوعية: uterine leiomyoma, HLRCC, FH, 2SC, FUMARATE-HYDRATASE GENE, RENAL-CELL CANCER, HEREDITARY LEIOMYOMATOSIS, GERMLINE MUTATIONS, IDENTIFY PATIENTS, FIBROIDS, MED12, INACTIVATION, SUCCINATION, FREQUENCY, 3111 Biomedicine, 3126 Surgery, anesthesiology, intensive care, radiology

وصف الملف: application/pdf

العلاقة: Supported by the Sigrid Juselius Foundation, Academy of Finland (grant 307773 for P.V., 295693 for N.M., and Finnish Center of Excellence Program 2018-2025 312041 for L.A.A.), Cancer Foundation Finland, and iCAN Digital Precision Cancer Medicine Flagship. The following foundations are acknowledged for personal grants: Biomedicum Helsinki Foundation, Cancer Foundation Finland, and Orion Research Foundation. The authors have disclosed that they have no significant relationships with, or financial interest in, any commercial companies pertaining to this article.; Ahvenainen , T , Kaukomaa , J , Kämpjärvi , K , Uimari , O , Ahtikoski , A , Mäkinen , N , Heikinheimo , O , Aaltonen , L A , Karhu , A , Bützow , R & Vahteristo , P 2022 , ' Comparison of 2SC, AKR1B10, and FH Antibodies as Potential Biomarkers for FH-deficient Uterine Leiomyomas ' , American Journal of Surgical Pathology , vol. 46 , no. 4 , pp. 537-546 . https://doi.org/10.1097/PAS.0000000000001826Test; ORCID: /0000-0001-6839-4286/work/111172677; ORCID: /0000-0003-1183-4943/work/111173697; ORCID: /0000-0003-0104-7794/work/111174653; ORCID: /0000-0001-9926-5452/work/111175169; ORCID: /0000-0002-7927-0796/work/155091532; cde6ab27-29fb-4796-a0ab-b68079af8b8e; http://hdl.handle.net/10138/356759Test; 000769634300012

الإتاحة: http://hdl.handle.net/10138/356759Test

المؤلفون: Yahya, Samar, Smith, Claire E.L., Poulter, James A., McKibbin, Martin, Arno, Gavin, Ellingford, Jamie, Kämpjärvi, Kati, Khan, Muhammad I., Cremers, Frans P.M., Hardcastle, Alison J., Castle, Bruce, Steel, David H.W., Webster, Andrew R., Black, Graeme C., El-Asrag, Mohammed E., Ali, Manir, Toomes, Carmel, Inglehearn, Chris F., Ingram, Stuart, Taylor, Rachel, Manson, Forbes, Sergouniotis, Panagiotis, Pontikos, Nikolas, Cheetham, Michael, Fiorentino, Alessia, Downes, Susan, Yu, Jing, Halford, Stephanie, Broadgate, Suzanne, van Heyningen, Veronica, Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R., Brittain, Helen, Caulfield, Mark J., Chan, Georgia C., Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios

المصدر: Ophthalmology ; volume 130, issue 1, page 68-76 ; ISSN 0161-6420

مصطلحات موضوعية: Ophthalmology

الإتاحة: https://doi.org/10.1016/j.ophtha.2022.07.023Test
https://api.elsevier.com/content/article/PII:S0161642022005656?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0161642022005656?httpAccept=text/plainTest

المؤلفون: Cornelis, Stéphanie S., IntHout, Joanna, Runhart, Esmee H., Grunewald, Olivier, Lin, Siying, Corradi, Zelia, Khan, Mubeen, Hitti-Malin, Rebekkah J., Whelan, Laura, Farrar, G. Jane, Sharon, Dror, van den Born, L. Ingeborgh, Arno, Gavin, Simcoe, Mark, Michaelides, Michel, Webster, Andrew R., Roosing, Susanne, Mahroo, Omar A., Dhaenens, Claire-Marie, Cremers, Frans P. M., AlTalbishi, Ala'a, Ayuso, Carmen, Banfi, Sandro, Banin, Eyal, Ben-Yosef, Tamar, Bolz, Hanno J., Dockery, Adrian, Downes, Susan, Fakin, Ana, Gorin, Michael B., Heon, Elise, Hoyng, Carel B., Inglehearn, Chris F., Karali, Marianthi, Kämpjärvi, Kati, Klaver, Caroline C.W., Liskova, Petra, Oldak, Monika, Plomp, Astrid S., Sajovic, Jana, Stöhr, Heidi, Szaflik, Jacek P., Thiadens, Alberta A.H.J., Tracewska, Anna M., Vajter, Marie, Verheij, Joke B.G.M., Weber, Bernhard H.F.

المصدر: JAMA Ophthalmology ; ISSN 2168-6165

الإتاحة: https://doi.org/10.1001/jamaophthalmol.2024.0660Test
https://jamanetwork.com/journals/jamaophthalmology/articlepdf/2817278/jamaophthalmology_cornelis_2024_oi_240016_1712177057.74381.pdfTest

المؤلفون: Heikkinen, Tuomas, Kämpjärvi, Kati, Keskitalo, Salla, von Nandelstadh, Pernilla, Liu, Xiaonan, Rantanen, Ville, Pitkänen, Esa, Kinnunen, Matias, Kuusanmäki, Heikki, Kontro, Mika, Turunen, Mikko, Mäkinen, Netta, Taipale, Jussi, Heckman, Caroline, Lehti, Kaisa, Mustjoki, Satu, Varjosalo, Markku, Vahteristo, Pia

المساهمون: Research Programs Unit, Genome-Scale Biology (GSB) Research Program, University of Helsinki, Medicum, Department of Medical and Clinical Genetics, Institute of Biotechnology, Department of Pathology, Sampsa Hautaniemi / Principal Investigator, Lauri Antti Aaltonen / Principal Investigator, Institute for Molecular Medicine Finland, Clinicum, Department of Oncology, Hematologian yksikkö, Department of Medicine, HUS Comprehensive Cancer Center, Jussi Taipale / Principal Investigator, Kaisa Irene Lehti / Principal Investigator, Molecular Systems Biology

مصطلحات موضوعية: MED12, acute lymphoblastic leukemia (ALL), BioID, affinity purification mass spectrometry, nonsense mutation, CHRONIC LYMPHOCYTIC-LEUKEMIA, UTERINE LEIOMYOMAS, PORE COMPLEX, MEDIATOR, CANCER, DISEASE, 3111 Biomedicine, 1184 Genetics, developmental biology, physiology

وصف الملف: application/pdf

العلاقة: Contract grant sponsors: Academy of Finland (Academy Research Fellow grants: 260370, 292769, 288475, 294173; Postdoctoral Researcher grant 295640); The Sigrid Juselius Foundation; The Cancer Society of Finland; The Finnish Cultural Foundation.; Heikkinen , T , Kämpjärvi , K , Keskitalo , S , von Nandelstadh , P , Liu , X , Rantanen , V , Pitkänen , E , Kinnunen , M , Kuusanmäki , H , Kontro , M , Turunen , M , Mäkinen , N , Taipale , J , Heckman , C , Lehti , K , Mustjoki , S , Varjosalo , M & Vahteristo , P 2017 , ' Somatic MED12 Nonsense Mutation Escapes mRNA Decay and Reveals a Motif Required for Nuclear Entry ' , Human mutation , vol. 38 , no. 3 , pp. 269-274 . https://doi.org/10.1002/humu.23157Test; ORCID: /0000-0002-1340-9732/work/37568847; ORCID: /0000-0001-5555-1975/work/45024027; ORCID: /0000-0002-0816-8241/work/39901435; ORCID: /0000-0003-1154-6204/work/51806596; ORCID: /0000-0003-0104-7794/work/56621637; ORCID: /0000-0001-6353-0664/work/133998497; http://hdl.handle.net/10138/348416Test; 624db194-4e0c-4fe5-81e1-fc95dbb12468; 85010738986; 000394905800006

الإتاحة: http://hdl.handle.net/10138/348416Test

المؤلفون: Tuupanen, Sari, Gall, Kimberly, Sistonen, Johanna, Saarinen, Inka, Kämpjärvi, Kati, Wells, Kirsty, Merkkiniemi, Katja, von Nandelstadh, Pernilla, Sarantaus, Laura, Kansakoski, Johanna, Martenson, Emma, Vastinsalo, Hanna, Schleit, Jennifer, Sankila, Eeva-Marja, Kere, Annakarin, Junnila, Heidi, Siivonen, Pauli, Andreevskaya, Margarita, Kytola, Ville, Muona, Mikko, Salmenpera, Pertteli, Myllykangas, Samuel, Koskenvuo, Juha, Alastalo, Tero-Pekka

المساهمون: HUS Head and Neck Center, Silmäklinikka

مصطلحات موضوعية: retinitis pigmentosa, RPGR, retinal dystrophy, next-generation sequencing, genetic testing, LINKED RETINITIS-PIGMENTOSA, MUTATIONS, DIAGNOSIS, FAMILIES, RP2, IDENTIFICATION, VARIANTS, GENES, 3125 Otorhinolaryngology, ophthalmology

وصف الملف: application/pdf

العلاقة: Tuupanen , S , Gall , K , Sistonen , J , Saarinen , I , Kämpjärvi , K , Wells , K , Merkkiniemi , K , von Nandelstadh , P , Sarantaus , L , Kansakoski , J , Martenson , E , Vastinsalo , H , Schleit , J , Sankila , E-M , Kere , A , Junnila , H , Siivonen , P , Andreevskaya , M , Kytola , V , Muona , M , Salmenpera , P , Myllykangas , S , Koskenvuo , J & Alastalo , T-P 2022 , ' Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients ' , Translational vision science & technology , vol. 11 , no. 1 , 6 . https://doi.org/10.1167/tvst.11.1.6Test; ded9ac49-5300-49bf-8219-abe7826d36b3; http://hdl.handle.net/10138/345827Test; 000799581700005

الإتاحة: http://hdl.handle.net/10138/345827Test

المؤلفون: Uimari, Outi, Ahtikoski, Anne, Kämpjärvi, Kati, Butzow, Ralf, Järvelä, Ilkka Y., Ryynänen, Markku, Aaltonen, Lauri A., Vahteristo, Pia, Kuismin, Outi

المساهمون: ATG - Applied Tumor Genomics, Department of Medical and Clinical Genetics, HUSLAB, Clinicum, Department of Pathology, University of Helsinki, Lauri Antti Aaltonen / Principal Investigator, Biosciences

مصطلحات موضوعية: Bcl-2, CD34, fumarate hydratase, hereditary leiomyomatosis and renal cell cancer, HLRCC, uterine leiomyoma, CARCINOMA SYNDROME, GERMLINE MUTATIONS, FH, HYPOXIA, FUMARATE, INACTIVATION, ACTIVATION, EXPRESSION, APOPTOSIS, FIBROIDS, 3123 Gynaecology and paediatrics

وصف الملف: application/pdf

العلاقة: Funding was received from the Academy of Finland (grant 307773 for PV), and the Sigrid Juselius Foundation, Cancer Society of Finland, and Finnish Medical Foundation (for OU).; Uimari , O , Ahtikoski , A , Kämpjärvi , K , Butzow , R , Järvelä , I Y , Ryynänen , M , Aaltonen , L A , Vahteristo , P & Kuismin , O 2021 , ' Uterine leiomyomas in hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome can be identified through distinct clinical characteristics and typical morphology ' , Acta Obstetricia et Gynecologica Scandinavica , vol. 100 , no. 11 , pp. 2066-2075 . https://doi.org/10.1111/aogs.14248Test; ORCID: /0000-0001-6839-4286/work/107669004; 879bd086-b660-423c-9abc-fd539e2c941c; http://hdl.handle.net/10138/339642Test; 000692651200001

الإتاحة: http://hdl.handle.net/10138/339642Test

المؤلفون: Kämpjärvi, Kati, Järvinen, Tiina M, Heikkinen, Tuomas, Ruppert, Amy S, Senter, Leigha, Hoag, Kevin W, Dufva, Olli, Kontro, Mika, Rassenti, Laura, Hertlein, Erin, Kipps, Thomas J, Porkka, Kimmo, Byrd, John C, de la Chapelle, Albert, Vahteristo, Pia

المصدر: Oncotarget. 6(3)

مصطلحات موضوعية: Genetics, Cancer, Rare Diseases, Lymphoma, Hematology, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Adult, Aged, Aged, 80 and over, Amino Acid Sequence, Female, Humans, Leukemia, Lymphocytic, Chronic, B-Cell, Mediator Complex, Middle Aged, Molecular Sequence Data, Mutation, Prognosis, Chronic lymphocytic leukemia, MED12, somatic mutation, cancer genetics, prognosis, Oncology and Carcinogenesis

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0pz6p7znTest