Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis

por Gall, Kimberly, Izzo, Emanuela, Seppälä, Eija H., Alakurtti, Kirsi, Koskinen, Lotta, Saarinen, Inka, Singh, Akashdeep, Myllykangas, Samuel, Koskenvuo, Juha, Alastalo, Tero-Pekka
Publicado 2021

ADAM23 is a common risk gene for canine idiopathic epilepsy

por Koskinen, Lotta L. E., Seppälä, Eija H., Weissl, Jutta, Jokinen, Tarja S., Viitmaa, Ranno, Hänninen, Reetta L., Quignon, Pascale, Fischer, Andrea, André, Catherine, Lohi, Hannes
Publicado 2017

Identification of a common risk haplotype for canine idiopathic epilepsy in the ADAM23 gene

por Koskinen, Lotta L. E., Seppälä, Eija H., Belanger, Janelle M., Arumilli, Meharji, Hakosalo, Osmo, Jokinen, Päivi, Nevalainen, Elisa M., Viitmaa, Ranno, Jokinen, Tarja S., Oberbauer, Anita M., Lohi, Hannes
Publicado 2015

Identification of a Novel Idiopathic Epilepsy Locus in Belgian Shepherd Dogs

por Seppälä, Eija H., Koskinen, Lotta L. E., Gulløv, Christina H., Jokinen, Päivi, Karlskov-Mortensen, Peter, Bergamasco, Luciana, Baranowska Körberg, Izabella, Cizinauskas, Sigitas, Oberbauer, Anita M., Berendt, Mette, Fredholm, Merete, Lohi, Hannes
Publicado 2012

Independent and cumulative coeliac disease-susceptibility loci are associated with distinct disease phenotypes

por Cerqueira, Juliana X. M., Saavalainen, Päivi, Kurppa, Kalle, Laurikka, Pilvi, Huhtala, Heini, Nykter, Matti, L. E. Koskinen, Lotta, Yohannes, Dawit A., Kilpeläinen, Elina, Shcherban, Anastasia, Palotie, Aarno, Kaukinen, Katri, Lindfors, Katri
Publicado 2021

Analysis of Complement C3 Gene Reveals Susceptibility to Severe Preeclampsia

por Lokki, A. Inkeri, Kaartokallio, Tea, Holmberg, Ville, Onkamo, Päivi, Koskinen, Lotta L. E., Saavalainen, Päivi, Heinonen, Seppo, Kajantie, Eero, Kere, Juha, Kivinen, Katja, Pouta, Anneli, Villa, Pia M., Hiltunen, Leena, Laivuori, Hannele, Meri, Seppo
Publicado 2017

Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients

por Heliö, Krista, Cicerchia, Marcos, Hathaway, Julie, Tommiska, Johanna, Huusko, Johanna, Saarinen, Inka, Koskinen, Lotta, Muona, Mikko, Kytölä, Ville, Djupsjöbacka, Janica, Gentile, Massimiliano, Salmenperä, Pertteli, Alastalo, Tero-Pekka, Steinberg, Christian, Heliö, Tiina, Paananen, Jussi, Myllykangas, Samuel, Koskenvuo, Juha
Publicado 2023

IL23R in the Swedish, Finnish, Hungarian and Italian populations: association with IBD and psoriasis, and linkage to celiac disease

por Einarsdottir, Elisabet, Koskinen, Lotta LE, Dukes, Emma, Kainu, Kati, Suomela, Sari, Lappalainen, Maarit, Ziberna, Fabiana, Korponay-Szabo, Ilma R, Kurppa, Kalle, Kaukinen, Katri, Ádány, Róza, Pocsai, Zsuzsa, Széles, György, Färkkilä, Martti, Turunen, Ulla, Halme, Leena, Paavola-Sakki, Paulina, Not, Tarcisio, Vatta, Serena, Ventura, Alessandro, Löfberg, Robert, Torkvist, Leif, Bresso, Francesca, Halfvarson, Jonas, Mäki, Markku, Kontula, Kimmo, Saarialho-Kere, Ulpu, Kere, Juha, D'Amato, Mauro, Saavalainen, Päivi
Publicado 2009

Erratum: A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis

por Rivas, Manuel A., Graham, Daniel, Sulem, Patrick, Stevens, Christine, Desch, A. Nicole, Goyette, Philippe, Gudbjartsson, Daniel, Jonsdottir, Ingileif, Thorsteinsdottir, Unnur, Degenhardt, Frauke, Mucha, Sören, Kurki, Mitja I., Li, Dalin, D'Amato, Mauro, Annese, Vito, Vermeire, Severine, Weersma, Rinse K., Halfvarson, Jonas, Paavola-Sakki, Paulina, Lappalainen, Maarit, Lek, Monkol, Cummings, Beryl, Tukiainen, Taru, Haritunians, Talin, Halme, Leena, Koskinen, Lotta L. E., Ananthakrishnan, Ashwin N., Luo, Yang, Heap, Graham A., Visschedijk, Marijn C., MacArthur, Daniel G., Neale, Benjamin M., Ahmad, Tariq, Anderson, Carl A., Brant, Steven R., Duerr, Richard H., Silverberg, Mark S., Cho, Judy H., Palotie, Aarno, Saavalainen, Päivi, Kontula, Kimmo, Färkkilä, Martti, McGovern, Dermot P. B., Franke, Andre, Stefansson, Kari, Rioux, John D., Xavier, Ramnik J., Daly, Mark J.
Publicado 2016

A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis

por Rivas, Manuel A., Graham, Daniel, Sulem, Patrick, Stevens, Christine, Desch, A. Nicole, Goyette, Philippe, Gudbjartsson, Daniel, Jonsdottir, Ingileif, Thorsteinsdottir, Unnur, Degenhardt, Frauke, Mucha, Sören, Kurki, Mitja I., Li, Dalin, D'Amato, Mauro, Annese, Vito, Vermeire, Severine, Weersma, Rinse K., Halfvarson, Jonas, Paavola-Sakki, Paulina, Lappalainen, Maarit, Lek, Monkol, Cummings, Beryl, Tukiainen, Taru, Haritunians, Talin, Halme, Leena, Koskinen, Lotta L. E., Ananthakrishnan, Ashwin N., Luo, Yang, Heap, Graham A., Visschedijk, Marijn C., MacArthur, Daniel G., Neale, Benjamin M., Ahmad, Tariq, Anderson, Carl A., Brant, Steven R., Duerr, Richard H., Silverberg, Mark S., Cho, Judy H, Palotie, Aarno, Saavalainen, Päivi, Kontula, Kimmo, Färkkilä, Martti, McGovern, Dermot P. B., Franke, Andre, Stefansson, Kari, Rioux, John D., Xavier, Ramnik J., Daly, Mark J., Barrett, J., de Lane, K., Edwards, C., Hart, A., Hawkey, C., Jostins, L., Kennedy, N., Lamb, C., Lee, J., Lees, C., Mansfield, J., Mathew, C., Mowatt, C., Newman, B., Nimmo, E., Parkes, M., Pollard, M., Prescott, N., Randall, J., Rice, D., Satsangi, J., Simmons, A., Tremelling, M., Uhlig, H., Wilson, D., Abraham, C., Achkar, J. P., Bitton, A., Boucher, G., Croitoru, K., Fleshner, P., Glas, J., Kugathasan, S., Limbergen, J. V., Milgrom, R., Proctor, D., Regueiro, M., Schumm, P. L., Sharma, Y., Stempak, J. M., Targan, S. R., Wang, M. H.
Publicado 2016