Zobrazeno 1 - 10
of 140
pro vyhledávání: '"H, Seppälä"'
Autor:
Julie Hathaway, Krista Heliö, Inka Saarinen, Jonna Tallila, Eija H. Seppälä, Sari Tuupanen, Hannu Turpeinen, Tiia Kangas-Kontio, Jennifer Schleit, Johanna Tommiska, Ville Kytölä, Miko Valori, Mikko Muona, Johanna Sistonen, Massimiliano Gentile, Pertteli Salmenperä, Samuel Myllykangas, Jussi Paananen, Tero-Pekka Alastalo, Tiina Heliö, Juha Koskenvuo
Publikováno v:
BMC Cardiovascular Disorders, Vol 21, Iss 1, Pp 1-11 (2021)
Abstract Background Genetic testing in hypertrophic cardiomyopathy (HCM) is a published guideline-based recommendation. The diagnostic yield of genetic testing and corresponding HCM-associated genes have been largely documented by single center studi
Externí odkaz:
https://doaj.org/article/1a8328a56c1a4010ae5eb9b873a650f5
Autor:
Christoffer Stark, Juha W. Koskenvuo, Antti Nykänen, Eija H. Seppälä, Samuel Myllykangas, Karl Lemström, Peter Raivio
Publikováno v:
ERJ Open Research, Vol 8, Iss 1 (2022)
Aim The prevalence of monogenic disease-causing gene variants in lung transplant recipients with idiopathic pulmonary fibrosis is not fully known. Their impact on clinical outcomes before and after transplantation requires more evidence. Patients an
Externí odkaz:
https://doaj.org/article/1636d8a55b6544429c4981c3637dfa5a
Autor:
Juha W Koskenvuo, Inka Saarinen, Saija Ahonen, Johanna Tommiska, Sini Weckström, Eija H Seppälä, Sari Tuupanen, Tiia Kangas-Kontio, Jennifer Schleit, Krista Heliö, Julie Hathaway, Anders Gummesson, Pia Dahlberg, Tiina H Ojala, Ville Vepsäläinen, Ville Kytölä, Mikko Muona, Johanna Sistonen, Pertteli Salmenperä, Massimiliano Gentile, Jussi Paananen, Samuel Myllykangas, Tero-Pekka Alastalo, Tiina Heliö
Publikováno v:
PLoS ONE, Vol 16, Iss 2, p e0245681 (2021)
BackgroundFamilial dilated cardiomyopathy (DCM) is typically a monogenic disorder with dominant inheritance. Although over 40 genes have been linked to DCM, more than half of the patients undergoing comprehensive genetic testing are left without mole
Externí odkaz:
https://doaj.org/article/81628bdf5aaa4625b9953c9f6ecf95db
Autor:
Kimberly Gall, Emanuela Izzo, Eija H Seppälä, Kirsi Alakurtti, Lotta Koskinen, Inka Saarinen, Akashdeep Singh, Samuel Myllykangas, Juha Koskenvuo, Tero-Pekka Alastalo
Publikováno v:
PLoS ONE, Vol 16, Iss 9, p e0255933 (2021)
Epilepsy is one of the most common childhood-onset neurological conditions with a genetic etiology. Genetic diagnosis provides potential for etiologically-based management and treatment. Existing research has focused on early-onset (
Externí odkaz:
https://doaj.org/article/0f7f4798607340f6af812a41cc79a33b
Autor:
Sami Qadri, Olli Anttonen, Juho Viikilä, Eija H. Seppälä, Samuel Myllykangas, Tero-Pekka Alastalo, Miia Holmström, Tiina Heliö, Juha W. Koskenvuo
Publikováno v:
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-9 (2017)
Abstract Background Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiac disease, involving changes in ventricular myocardial tissue and leading to fatal arrhythmias. Mutations in desmosomal genes are thought to be the main
Externí odkaz:
https://doaj.org/article/a09bc8e7efa144e099e2425cd39ed050
Autor:
Sari U M Vanninen, Krista Leivo, Eija H Seppälä, Katriina Aalto-Setälä, Olli Pitkänen, Piia Suursalmi, Antti-Pekka Annala, Ismo Anttila, Tero-Pekka Alastalo, Samuel Myllykangas, Tiina M Heliö, Juha W Koskenvuo
Publikováno v:
PLoS ONE, Vol 13, Iss 9, p e0203422 (2018)
During the last two decades, mutations in sarcomere genes have found to comprise the most common cause for hypertrophic cardiomyopathy (HCM), but still significant number of patients with dominant HCM in the family are left without molecular genetic
Externí odkaz:
https://doaj.org/article/765d72e811124334bbea1b6ce84f4113
Autor:
Hannes Lohi, Eija H. Seppälä, Merete Fredholm, Jørgen Koch, Helle Friis Proschowsky, Yukihide Momozawa, Laurent Tiret, Vassiliki Gouni, Valérie Chetboul, Anne-Sophie Lequarré, Anne-Christine Merveille, Michel Georges, J.L. Willesen, Maria Wiberg, Géraldine Battaille
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-11 (2020)
Scientific Reports
Scientific Reports, Nature Publishing Group, 2020, 10 (1), pp.6520. ⟨10.1038/s41598-020-63457-y⟩
Momozawa, Y, Merveille, A C, Battaille, G, Wiberg, M, Koch, J, Willesen, J L, Proschowsky, H F, Gouni, V, Chetboul, V, Tiret, L, Fredholm, M, Seppälä, E H, Lohi, H, Georges, M & Lequarré, A S 2020, ' Genome wide association study of 40 clinical measurements in eight dog breeds ', Scientific Reports, vol. 10, 6520 . https://doi.org/10.1038/s41598-020-63457-y
Scientific Reports
Scientific Reports, Nature Publishing Group, 2020, 10 (1), pp.6520. ⟨10.1038/s41598-020-63457-y⟩
Momozawa, Y, Merveille, A C, Battaille, G, Wiberg, M, Koch, J, Willesen, J L, Proschowsky, H F, Gouni, V, Chetboul, V, Tiret, L, Fredholm, M, Seppälä, E H, Lohi, H, Georges, M & Lequarré, A S 2020, ' Genome wide association study of 40 clinical measurements in eight dog breeds ', Scientific Reports, vol. 10, 6520 . https://doi.org/10.1038/s41598-020-63457-y
The domestic dog represents an ideal model for identifying susceptibility genes, many of which are shared with humans. In this study, we investigated the genetic contribution to individual differences in 40 clinically important measurements by a geno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a90edbb51099826c001e750b0751e9aa
http://link.springer.com/article/10.1038/s41598-020-63457-y
http://link.springer.com/article/10.1038/s41598-020-63457-y
Autor:
Fabiana H.G. Farias, Rong Zeng, Gary S. Johnson, Fred A. Wininger, Jeremy F. Taylor, Robert D. Schnabel, Stephanie D. McKay, Douglas N. Sanders, Hannes Lohi, Eija H. Seppälä, Claire M. Wade, Kerstin Lindblad-Toh, Dennis P. O'Brien, Martin L. Katz
Publikováno v:
Neurobiology of Disease, Vol 42, Iss 3, Pp 468-474 (2011)
A recessive, adult-onset neuronal ceroid-lipofuscinosis (NCL) occurs in Tibetan terriers. A genome-wide association study restricted this NCL locus to a 1.3 Mb region of canine chromosome 2 which contains canine ATP13A2. NCL-affected dogs were homozy
Externí odkaz:
https://doaj.org/article/f40ebbfe3986422681439c3d7e637cd3
Autor:
Maria Wilbe, Sergey V Kozyrev, Fabiana H G Farias, Hanna D Bremer, Anna Hedlund, Gerli R Pielberg, Eija H Seppälä, Ulla Gustafson, Hannes Lohi, Örjan Carlborg, Göran Andersson, Helene Hansson-Hamlin, Kerstin Lindblad-Toh
Publikováno v:
PLoS Genetics, Vol 11, Iss 6, p e1005248 (2015)
The complexity of clinical manifestations commonly observed in autoimmune disorders poses a major challenge to genetic studies of such diseases. Systemic lupus erythematosus (SLE) affects humans as well as other mammals, and is characterized by the p
Externí odkaz:
https://doaj.org/article/3bf34628816943818286ed33a1eedab5
Autor:
Kaisa Kyöstilä, Pernilla Syrjä, Vidhya Jagannathan, Gayathri Chandrasekar, Tarja S Jokinen, Eija H Seppälä, Doreen Becker, Michaela Drögemüller, Elisabeth Dietschi, Cord Drögemüller, Johann Lang, Frank Steffen, Cecilia Rohdin, Karin H Jäderlund, Anu K Lappalainen, Kerstin Hahn, Peter Wohlsein, Wolfgang Baumgärtner, Diana Henke, Anna Oevermann, Juha Kere, Hannes Lohi, Tosso Leeb
Publikováno v:
PLoS Genetics, Vol 11, Iss 4, p e1005169 (2015)
Inherited neurodegenerative disorders are debilitating diseases that occur across different species. We have performed clinical, pathological and genetic studies to characterize a novel canine neurodegenerative disease present in the Lagotto Romagnol
Externí odkaz:
https://doaj.org/article/29096210965a4aefadbe5af9c92fd53a