المؤلفون: Nagyova, Emilia, Hoorntje, Edgar T, Rijdt, Wouter P Te, Bosman, Laurens P, Syrris, Petros, Protonotarios, Alexandros, Elliott, Perry M, Tsatsopoulou, Adalena, Mestroni, Luisa, Taylor, Matthew R G, Sinagra, Gianfranco, Merlo, Marco, Wada, Yuko, Horie, Minoru, Mogensen, Jens, Christensen, Alex H, Gerull, Brenda, Song, Lei, Yao, Yan, Fan, Siyang, Saguner, Ardan M, Duru, Firat, Koskenvuo, Juha W, Cruz Marino, Tania, Tichnell, Crystal, Judge, Daniel P, Dooijes, Dennis, Lekanne Deprez, Ronald H, Basso, Cristina, Pilichou, Kalliopi, Bauce, Barbara, Wilde, Arthur A M, Charron, Philippe, Fressart, Véronique, van der Heijden, Jeroen F, van den Berg, Maarten P, Asselbergs, Folkert W, James, Cynthia A, Jongbloed, Jan D H, Harakalova, Magdalena, van Tintelen, J Peter

المساهمون: Nagyova, Emilia, Hoorntje, Edgar T, Rijdt, Wouter P Te, Bosman, Laurens P, Syrris, Petro, Protonotarios, Alexandro, Elliott, Perry M, Tsatsopoulou, Adalena, Mestroni, Luisa, Taylor, Matthew R G, Sinagra, Gianfranco, Merlo, Marco, Wada, Yuko, Horie, Minoru, Mogensen, Jen, Christensen, Alex H, Gerull, Brenda, Song, Lei, Yao, Yan, Fan, Siyang, Saguner, Ardan M, Duru, Firat, Koskenvuo, Juha W, Cruz Marino, Tania, Tichnell, Crystal, Judge, Daniel P, Dooijes, Denni, Lekanne Deprez, Ronald H, Basso, Cristina, Pilichou, Kalliopi, Bauce, Barbara, Wilde, Arthur A M, Charron, Philippe, Fressart, Véronique, van der Heijden, Jeroen F, van den Berg, Maarten P, Asselbergs, Folkert W, James, Cynthia A, Jongbloed, Jan D H, Harakalova, Magdalena, van Tintelen, J Peter

مصطلحات موضوعية: ARVC, Arrhythmia, Composite endpoint, Desmosomal gene, Genetic, Multiple variants

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37418234; info:eu-repo/semantics/altIdentifier/wos/WOS:001027955800001; volume:16/2023; firstpage:1276; lastpage:1286; numberofpages:11; journal:JOURNAL OF CARDIOVASCULAR TRANSLATIONAL RESEARCH; https://hdl.handle.net/11368/3050861Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85164170998; https://link.springer.com/article/10.1007/s12265-023-10403-8Test

الإتاحة: https://doi.org/10.1007/s12265-023-10403-8Test
https://hdl.handle.net/11368/3050861Test

المؤلفون: Heliö, Krista, Brandt, Eveliina, Vaara, Satu, Weckström, Sini, Harjama, Liisa, Kandolin, Riina, Järviö, Johanna, Hannula-Jouppi, Katariina, Helio, Tiina, Holmström, Miia, Koskenvuo, Juha W.

المساهمون: HUS Heart and Lung Center, Department of Dermatology, Allergology and Venereology, HUS Inflammation Center, HUS Medical Imaging Center, HUS Diagnostic Center, Kardiologian yksikkö, Research Programs Unit, STEMM - Stem Cells and Metabolism Research Program, Clinicum, Department of Medicine

مصطلحات موضوعية: Cmr, Dsp, Arrhythmogenic cardiomyopathy, Cardiomyopathy, Myocarditis, Palmoplantar keratoderma, 3121 General medicine, internal medicine and other clinical medicine

وصف الملف: application/pdf

العلاقة: Heliö , K , Brandt , E , Vaara , S , Weckström , S , Harjama , L , Kandolin , R , Järviö , J , Hannula-Jouppi , K , Helio , T , Holmström , M & Koskenvuo , J W 2023 , ' DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma ' , Frontiers in cardiovascular medicine , vol. 10 , 1130903 . https://doi.org/10.3389/fcvm.2023.1130903Test; ORCID: /0000-0001-6244-1969/work/133999177; a9779b0a-d7ff-4d42-8cfd-515bbdbae755; http://hdl.handle.net/10138/357208Test; 000957839800001

الإتاحة: http://hdl.handle.net/10138/357208Test

المؤلفون: Stark, Christoffer, Koskenvuo, Juha W., Nykänen, Antti, Seppälä, Eija H., Myllykangas, Samuel, Lemström, Karl, Raivio, Peter

المساهمون: HUS Heart and Lung Center, Clinicum, Department of Surgery, University of Helsinki, Sydän ja rintaelinkirurgia

مصطلحات موضوعية: IDIOPATHIC PULMONARY-FIBROSIS, MUTATIONS, UPDATE, General medicine, internal medicine and other clinical medicine

وصف الملف: application/pdf

العلاقة: This work was funded by grants from Helsinki University Hospital (grant number Y2019SK017) and Suomen transplantaatiokirurginen yhdistys. Funding information for this article has been deposited with the Crossref Funder Registry.; Stark , C , Koskenvuo , J W , Nykänen , A , Seppälä , E H , Myllykangas , S , Lemström , K & Raivio , P 2022 , ' Monogenic gene variants in lung transplant recipients with usual interstitial pneumonia ' , ERJ Open Research , vol. 8 , no. 1 , 00583 . https://doi.org/10.1183/23120541.00583-2021Test; ORCID: /0000-0001-6920-4093/work/112672194; http://hdl.handle.net/10138/352205Test; 8d646473-26f6-4f09-8a08-44ce3f3da180; 000783165900053

الإتاحة: http://hdl.handle.net/10138/352205Test

المؤلفون: Koskenvuo, Juha W., Saarinen, Inka, Ahonen, Saija, Tommiska, Johanna, Weckström, Sini, Seppala, Eija H., Tuupanen, Sari, Kangas-Kontio, Tiia, Schleit, Jennifer, Helio, Krista, Hathaway, Julie, Gummesson, Anders, Dahlberg, Pia, Ojala, Tiina H., Vepsäläinen, Ville, Kytola, Ville, Muona, Mikko, Sistonen, Johanna, Salmenpera, Pertteli, Gentile, Massimiliano, Paananen, Jussi, Myllykangas, Samuel, Alastalo, Tero-Pekka, Heliö, Tiina

المساهمون: HUS Heart and Lung Center, Helsinki University Hospital Area, University of Helsinki, Clinicum, Children's Hospital, HUS Children and Adolescents, Department of Medicine

مصطلحات موضوعية: N-RAP, MUTATIONS, GENETICS, LOCALIZATION, LANDSCAPE, PROTEIN, 3121 General medicine, internal medicine and other clinical medicine

وصف الملف: application/pdf

العلاقة: This work was supported by grants from the Finnish Foundation for Cardiovascular Research (TH), Aarne Koskelo Foundation (TH), Special Governmental Subsidy (EVO) grants (TH). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.; Koskenvuo , J W , Saarinen , I , Ahonen , S , Tommiska , J , Weckström , S , Seppala , E H , Tuupanen , S , Kangas-Kontio , T , Schleit , J , Helio , K , Hathaway , J , Gummesson , A , Dahlberg , P , Ojala , T H , Vepsäläinen , V , Kytola , V , Muona , M , Sistonen , J , Salmenpera , P , Gentile , M , Paananen , J , Myllykangas , S , Alastalo , T-P & Heliö , T 2021 , ' Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy ' , PLoS One , vol. 16 , no. 2 , 0245681 . https://doi.org/10.1371/journal.pone.0245681Test; ORCID: /0000-0001-9092-7763/work/93369592; ORCID: /0000-0001-6244-1969/work/98809033; 8ed8a180-8cd6-4673-9a44-a54f0cea5eea; http://hdl.handle.net/10138/329668Test; 000616739700008

الإتاحة: http://hdl.handle.net/10138/329668Test

المؤلفون: Heliö, Tiina, Elliott, Perry, Koskenvuo, Juha W, Gimeno, Juan R, Tavazzi, Luigi, Tendera, Michal, Kaski, Juan Pablo, Mansencal, Nicolas, Bilińska, Zofia, Carr-White, Gerry, Damy, Thibaud, Frustaci, Andrea, Kindermann, Ingrid, Ripoll-Vera, Tomas, Čelutkienė, Jelena, Axelsson, Anna, Lorenzini, Massimiliano, Saad, Aly, Maggioni, Aldo P, Laroche, Cécile, Caforio, Alida L P, Charron, Philippe

المصدر: ESC Heart Failure., San Francisko : Wiley, 2020, vol. 7, no. 5, p. 3013-3021. ; eISSN 2055-5822

مصطلحات موضوعية: cardiomyopathy, disease-causing variant, genetic counselling, genetic testing, mutation, registry

وصف الملف: application/pdf

العلاقة: https://epublications.vu.lt/object/elaba:66900366/66900366.pdfTest; https://repository.vu.lt/VU:ELABAPDB66900366&prefLang=en_USTest

الإتاحة: https://doi.org/10.1002/ehf2.12925Test
https://repository.vu.lt/VU:ELABAPDB66900366&prefLang=en_USTest

المؤلفون: Heliö, Krista, Kangas-Kontio, Tiia, Weckström, Sini, Vanninen, Sari U.M., Aalto-Setälä, Katriina, Alastalo, Tero-Pekka, Myllykangas, Samuel, Heliö, Tiina M., Koskenvuo, Juha W.

المساهمون: Lääketieteen ja terveysteknologian tiedekunta - Faculty of Medicine and Health Technology, Tampere University

مصطلحات موضوعية: Arrhythmogenic cardiomyopathy, Cardiomyopathies, Desmoplakin, Dilated cardiomyopathy, DSP, Mutation, Biolääketieteet - Biomedicine

وصف الملف: fulltext

العلاقة: 19; BMC Medical Genetics; 21; https://trepo.tuni.fi/handle/10024/122270Test; URN:NBN:fi:tuni-202005265676

الإتاحة: https://trepo.tuni.fi/handle/10024/122270Test

المؤلفون: EORP Cardiomyopathy Registry Inves, Heliö, Tiina, Elliott, Perry, Koskenvuo, Juha W., Charron, Philippe

المساهمون: HUS Heart and Lung Center, Department of Medicine, Kardiologian yksikkö, University of Helsinki, Helsinki University Hospital Area

مصطلحات موضوعية: Cardiomyopathy, Registry, Genetic testing, Genetic counselling, Mutation, Disease-causing variant, DILATED CARDIOMYOPATHY, EUROPEAN-SOCIETY, HYPERTROPHIC CARDIOMYOPATHY, POSITION STATEMENT, WORKING GROUP, DIAGNOSIS, GUIDELINES, 3121 General medicine, internal medicine and other clinical medicine

وصف الملف: application/pdf

العلاقة: This work was supported by Abbott Vascular International (2011-2021), Amgen Cardiovascular (2009-2018), AstraZeneca (2014-2021), Bayer AG (2009-2018), Boehringer Ingelheim (2009-2019), Boston Scientific (2009-2012), The Bristol Myers Squibb and Pfizer Alliance (2011-2019), Daiichi Sankyo Europe GmbH (2011-2020), The Alliance Daiichi Sankyo Europe GmbH and Eli Lilly and Company (2014-2017), Edwards (2016-2019), Gedeon Richter Plc. (2014-2016), Menarini Int. Op. (2009-2012), MSD-Merck & Co. (2011-2014), Novartis Pharma AG (2014-2020), ResMed (2014-2016), Sanofi (2009-2011), Servier (2009-2021), and Vifor (2019-2022). Funders had no role in the study design, data analyses, and manuscript drafting.; EORP Cardiomyopathy Registry Inves , Heliö , T , Elliott , P , Koskenvuo , J W & Charron , P 2020 , ' ESC EORP Cardiomyopathy Registry : real-life practice of genetic counselling and testing in adult cardiomyopathy patients ' , ESC Heart Failure , vol. 7 , no. 5 , pp. 3013-3021 . https://doi.org/10.1002/ehf2.12925Test; 52402452-3168-416e-8b39-f318887dc2db; http://hdl.handle.net/10138/320827Test; 000556301900001

الإتاحة: http://hdl.handle.net/10138/320827Test

المؤلفون: Koskenvuo, Juha W, Mirsky, Rachel, Zhang, Yan, Angeli, Franca S, Jahn, Sarah, Alastalo, Tero-Pekka, Schiller, Nelson B, Boyle, Andrew J, Chatterjee, Kanu, De Marco, Teresa, Yeghiazarians, Yerem

المصدر: The international journal of cardiovascular imaging. 26(5)

مصطلحات موضوعية: Animals, Rats, Rats, Nude, Hypertension, Pulmonary, Tricuspid Valve Insufficiency, Disease Models, Animal, Monocrotaline, Echocardiography, Doppler, Blood Flow Velocity, Analysis of Variance, Sensitivity and Specificity, Predictive Value of Tests, ROC Curve, Vascular Resistance, Female, Cardiac Catheterization, Pulmonary hypertension, Echocardiography, Total pulmonary vascular resistance, Pulmonary artery pressure, PAAT, PAD, Disease Models, Animal, Doppler, Hypertension, Pulmonary, Nude, Cardiorespiratory Medicine and Haematology, Nuclear Medicine & Medical Imaging

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/9ts1r3wnTest

المؤلفون: Vanninen, Sari U. M., Leivo, Krista, Seppälä, Eija H., Aalto-Setälä, Katriina, Pitkänen, Olli, Suursalmi, Piia, Annala, Antti-Pekka, Anttila, Ismo, Alastalo, Tero-Pekka, Myllykangas, Samuel, Heliö, Tiina M., Koskenvuo, Juha W.

المساهمون: Clinicum, Lastentautien yksikkö, Children's Hospital, Medicum, University of Helsinki, Department of Medicine, Department of Diagnostics and Therapeutics, HUS Children and Adolescents, HUS Heart and Lung Center

مصطلحات موضوعية: BINDING-PROTEIN-C, HYPERTROPHIC CARDIOMYOPATHY, DILATED CARDIOMYOPATHY, ATRIAL-FIBRILLATION, ALPHA-TROPOMYOSIN, MYBPC3 GENE, MUTATION, COMMON, POPULATION, STATEMENT, 3121 General medicine, internal medicine and other clinical medicine

وصف الملف: application/pdf

العلاقة: Blueprint Genetics (BpG) provided support in the form of salaries for authors [EHS, TPA, SM, THH, JWK], but did not have any additional role in the study design, data collection and analysis, decision to publish, or preparation of the manuscript. The specific roles of these authors are articulated in the 'author contributions' section. The other funders that provided research grants for this study, Finnish Society for Cardiovascular Research, the VTR Fund, Aarne Koskelo Foundation, the EVO Fund, Sigrid Juselius Foundation or the Academy of Finland, did not have any additional role in the study design, data collection and analysis, decision to publish, or preparation of the manuscript.; Vanninen , S U M , Leivo , K , Seppälä , E H , Aalto-Setälä , K , Pitkänen , O , Suursalmi , P , Annala , A-P , Anttila , I , Alastalo , T-P , Myllykangas , S , Heliö , T M & Koskenvuo , J W 2018 , ' Heterozygous junctophilin-2 (JPH2) p. (Thr161Lys) is a monogenic cause for HCM with heart failure ' , PLoS One , vol. 13 , no. 9 , 0203422 . https://doi.org/10.1371/journal.pone.0203422Test; 85053623292; b050ade4-c6b0-4bff-ab20-b3a0a8cc828b; http://hdl.handle.net/10138/250565Test; 000445626400022

الإتاحة: http://hdl.handle.net/10138/250565Test

المؤلفون: Vattulainen, Sanna, Aho, Joonas, Salmenperä, Pertteli, Bruce, Siina, Tallila, Jonna, Gentile, Massimiliano, Sankelo, Marja, Laitinen, Tarja, Koskenvuo, Juha W., Alastalo, Tero-Pekka, Myllykangas, Samuel

المساهمون: Children's Hospital, Clinicum, University of Helsinki, Department of Diagnostics and Therapeutics, Lastentautien yksikkö, Medicum, Department of Biochemistry and Developmental Biology, HUS Children and Adolescents

مصطلحات موضوعية: BMPR2, genetic diagnostics, genetics, OS-Seq, pulmonary arterial hypertension, 3111 Biomedicine

وصف الملف: application/pdf

العلاقة: Vattulainen , S , Aho , J , Salmenperä , P , Bruce , S , Tallila , J , Gentile , M , Sankelo , M , Laitinen , T , Koskenvuo , J W , Alastalo , T-P & Myllykangas , S 2015 , ' Accurate genetic diagnosis of Finnish pulmonary arterial hypertension patients using oligonucleotide-selective sequencing ' , Molecular Genetics & Genomic Medicine , vol. 3 , no. 4 , pp. 354-362 . https://doi.org/10.1002/mgg3.147Test; RIS: urn:5B246083685AA0EC93E65C46591AEC0B; c85d73c7-886c-48e2-8941-e2c56d43a378; http://hdl.handle.net/10138/233220Test; 000214712800011

الإتاحة: http://hdl.handle.net/10138/233220Test