Novel Finnish-enriched variants causing severe hypercholesterolemia and their clinical impact on coronary artery disease

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Publikováno v: In Atherosclerosis December 2023 386

The genetics underlying idiopathic ventricular fibrillation: A special role for catecholaminergic polymorphic ventricular tachycardia?

Autor: Leinonen, Jaakko T., Crotti, Lia, Djupsjöbacka, Aurora, Castelletti, Silvia, Junna, Nella, Ghidoni, Alice, Tuiskula, Annukka M., Spazzolini, Carla, Dagradi, Federica, Viitasalo, Matti, Kontula, Kimmo, Kotta, Maria-Christina, Widén, Elisabeth, Swan, Heikki, Schwartz, Peter J.

Publikováno v: In International Journal of Cardiology 1 January 2018 250:139-145

Truncated HSPB1 causes axonal neuropathy and impairs tolerance to unfolded protein stress

Autor: Ylikallio, Emil, Konovalova, Svetlana, Dhungana, Yogesh, Hilander, Taru, Junna, Nella, Partanen, Juhani V., Toppila, Jussi P., Auranen, Mari, Tyynismaa, Henna

Publikováno v: In BBA Clinical June 2015 3:233-242

Genetics of early-life head circumference and genetic correlations with neurological, psychiatric and cognitive outcomes

Autor: Vogelezang, Suzanne, Bradfield, Jonathan P., Johansson, Stefan, Stergiakouli, Evie, Thiering, Elisabeth, Pennell, Craig E., Ahluwalia, Tarunveer S., Karhunen, Ville, Scholz, Markus, Liu, Xueping, Iñiguez, Carmen, Raitakari, Olli T., Bacelis, Jonas, Schnurr, Theresia M., Lakka, Timo A., Ntalla, Ioanna, Lind, Mads V., Lauritzen, Lotte, Herrala, Sauli, Lin, Frederick T. J., Frithioff-Bøjsøe, Christine, Beaumont, Robin N., Zafarmand, Mohammed H., Rzehak, Peter, Bilbao, Jose R., Junna, Nella, Vonk, Judith M., Rifas-Shiman, Sheryl L., Janjanam, Vimala D., Knol, Maria J., Ramdas, Shweta, Beilin, Lawrie, Bønnelykke, Klaus, Casas, Maribel, Eriksson, Johan G., Escribano, Joaquin, Evans, Tavia E., Gehring, Ulrike, Geller, Frank, Grote, Veit, Gruszfeld, Darek, Hakonarson, Hakon, Hattersley, Andrew T., Have, Christian T., Geoffrey Hayes, M., Heinrich, Joachim, Helgeland, Øvind, Holloway, Jhon, Joro, Raimo, Juodakis, Julius, Knight, Bridget A., Koletzko, Bert, Körner, Antje, Langhendries, Jean-Paul, Leinonen, Jaakko T., Lindi, Virpi, Lund, Morten A. V., Lye, Stephen, Melbye, Mads, Michaelsen, Kim F., Morgen, Camilla S., Niinikoski, Harri, Pahkala, Katja, Panoutsopoulou, Kalliope, Pedersen, Oluf, Rivadeneira, Fernando, Santa-Marina, Loreto, Schaik, Barbera D. C., Scholtens, Denise, Sebert, Sylvain, Tamayo, Ibon, Timpson, Nicholas J., Torrent, Maties, Uitterlinden, André G., Vaudel, Marc, Verduci, Elvira, Vinding, Rebecca, Vogel, Mandy, Zeggini, Eleftheria, Brown, Christopher, Adams, Hieab H. H., Karmaus, Wilfried, Hivert, Marie-France, Koppelman, Gerard H., Widén, Elisabeth, Fernandez-Jimenez, Nora, Waldenberger, Melanie, Vrijkotte, Tanja G. M., Freathy, Rachel M., Holm, Jens-Christian, Lowe, William L., Grarup, Niels, Hansen, Torben, Dedoussis, George V., Atalay, Mustafa, Nohr, Ellen A., Jacobsson, Bo, Pitkänen, Niina, Vrijheid, Martine, Feenstra, Bjarke, Kiess, Wieland, Jarvelin, Marjo-Riita, Bisgaard, Hans, Wang C, Carol, Standl, Marie, McCarthy, Mark I., Pourcain, Beate St, Njølstad, Pål R., Grant, Struan F. A., Felix, Janine F., Jaddoe, Vincent W. V.

Publikováno v: BMC Med. Genomics 15:124 (2022)
BMC Medical Genomics, 15(1):124. BioMed Central Ltd.
2022, ' Genetics of early-life head circumference and genetic correlations with neurological, psychiatric and cognitive outcomes ', BMC Medical Genomics, vol. 15, no. 124, pp. 124 . https://doi.org/10.1186/s12920-022-01281-1
Vogelezang, S, Bradfield, J P, Early Growth Genetics Consortium, Ahluwalia, T V S, Liu, X, Schnurr, T M, Frithioff-Bøjsøe, C, Bønnelykke, K, Lind, M V, Lauritzen, L, Michaelsen, K F, Lund, M A V, Melbye, M, Morgen, C S, Pedersen, O B, Holm, J-C, Grarup, N, Hansen, T, Nohr, E A, Bisgaard, H, Grant, S F A, Felix, J F & Jaddoe, V W V 2022, ' Genetics of early-life head circumference and genetic correlations with neurological, psychiatric and cognitive outcomes ', BMC Medical Genomics, vol. 15, 124 . https://doi.org/10.1186/s12920-022-01281-1
BMC Med Genomics
BMC Medical Genomics, 15:124. BioMed Central Ltd.
BMC Medical Genomics

Background Head circumference is associated with intelligence and tracks from childhood into adulthood. Methods We performed a genome-wide association study meta-analysis and follow-up of head circumference in a total of 29,192 participants between 6

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6defd3823f67f9045daf775954d649ae
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=66505

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