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

المساهمون: HUS Heart and Lung Center, HUS Children and Adolescents, Clinicum, Department of Medicine

مصطلحات موضوعية: Cardiomyopathy, Diagnostic yield, Dilated cardiomyopathy, Genetic testing, Next generation sequencing, General medicine, internal medicine and other clinical medicine

وصف الملف: application/pdf

Relation: The author(s) declare financial support was received for the research, authorship, and/or publication of this article.r This work was supported by personal grants from the Aarne Koskelo Foundation (to KH and TH); the Finnish Foundation for Cardiovascular Research (to KH and TH), and the Finnish Medical Foundation (to KH).; http://hdl.handle.net/10138/566744; 85173590314; 001076622900001

الاتاحة: http://hdl.handle.net/10138/566744

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, Otorhinolaryngology, ophthalmology

وصف الملف: application/pdf

Relation: 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.11.1.6; http://hdl.handle.net/10138/345827; ded9ac49-5300-49bf-8219-abe7826d36b3; 000799581700005

الاتاحة: http://hdl.handle.net/10138/345827

المؤلفون: Scocchia, Alicia, Kangas-Kontio, Tiia, Irving, Melita, Hero, Matti, Saarinen, Inka, Pelttari, Liisa, Gall, Kimberly, Valo, Satu, Huusko, Johanna M., Tallila, Jonna, Sistonen, Johanna, Koskenvuo, Juha, Alastalo, Tero-Pekka

المساهمون: Clinicum, Children's Hospital, Raivio Group, HUS Children and Adolescents

مصطلحات موضوعية: Skeletal dysplasia, Skeletal disorders, Next-generation sequencing, Multi-gene panel, Molecular diagnostics, Genetic diagnostics, Prenatal genetic testing, Copy number variant analysis, PRENATAL-DIAGNOSIS, Genetics, developmental biology, physiology

وصف الملف: application/pdf

Relation: Funding for the study was provided by Blueprint Genetics, Inc., a Quest Diagnostics company.; Scocchia , A , Kangas-Kontio , T , Irving , M , Hero , M , Saarinen , I , Pelttari , L , Gall , K , Valo , S , Huusko , J M , Tallila , J , Sistonen , J , Koskenvuo , J & Alastalo , T-P 2021 , ' Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia ' , Orphanet journal of rare diseases , vol. 16 , no. 1 , 412 . https://doi.org/10.1186/s13023-021-02025-7; http://hdl.handle.net/10138/342319; 58c9b852-e751-4ef5-8872-84cb9323651d; 000705208700008

الاتاحة: http://hdl.handle.net/10138/342319

المؤلفون: Teekakirikul, Polakit, Zhu, Wenjuan, Xu, Xinxiu, Young, Cullen B., Tan, Tuantuan, Smith, Amanda M., Wang, Chengdong, Peterson, Kevin A., Gabriel, George C., Ho, Sebastian, Sheng, Yi, de Bellaing, Anne Moreau, Sonnenberg, Daniel A., Lin, Jiuann-huey, Fotiou, Elisavet, Tenin, Gennadiy, Wang, Michael X., Wu, Yijen L., Feinstein, Timothy, Devine, William, Gou, Honglan, Bais, Abha S., Glennon, Benjamin J., Zahid, Maliha, Wong, Timothy C., Ahmad, Ferhaan, Rynkiewicz, Michael J., Lehman, William J., Keavney, Bernard, Alastalo, Tero-Pekka, Freckmann, Mary-Louise, Orwig, Kyle, Murray, Steve, Ware, Stephanie M., Zhao, Hui, Feingold, Brian, Lo, Cecilia W.

المساهمون: Pediatrics, School of Medicine

المصدر: PMC

مصطلحات موضوعية: CRISPR gene editing, Atrial septal defect, Embryonic lethality, Genetic resiliency, Induced pluripotent stem cell, Protective variant

وصف الملف: application/pdf

Relation: Cell Reports Medicine; Teekakirikul P, Zhu W, Xu X, et al. Genetic resiliency associated with dominant lethal TPM1 mutation causing atrial septal defect with high heritability. Cell Rep Med. 2022;3(2):100501. Published 2022 Feb 15. doi:10.1016/j.xcrm.2021.100501; https://hdl.handle.net/1805/33217

الاتاحة: https://hdl.handle.net/1805/33217

المؤلفون: Scocchia, Alicia, Kangas-Kontio, Tiia, Irving, Melita, Hero, Matti, Saarinen, Inka, Pelttari, Liisa, Gall, Kimberly, Valo, Satu, Huusko, Johanna M., Tallila, Jonna, Sistonen, Johanna, Koskenvuo, Juha, Alastalo, Tero-Pekka

المصدر: Orphanet Journal of Rare Diseases ; volume 17, issue 1 ; ISSN 1750-1172

الاتاحة: https://doi.org/10.1186/s13023-022-02242-8
https://link.springer.com/content/pdf/10.1186/s13023-022-02242-8.pdf
https://link.springer.com/article/10.1186/s13023-022-02242-8/fulltext.html

المؤلفون: de Jesus Perez, Vinicio A, Yuan, Ke, Lyuksyutova, Maria A, Dewey, Frederick, Orcholski, Mark E, Shuffle, Eric M, Mathur, Maya, Yancy, Luke, Rojas, Vanessa, Li, Caiyun Grace, Cao, Aiqin, Alastalo, Tero-Pekka, Khazeni, Nayer, Cimprich, Karlene A, Butte, Atul J, Ashley, Euan, Zamanian, Roham T

المصدر: American Journal of Respiratory and Critical Care Medicine. 189(10)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Clinical Sciences, Biotechnology, Genetics, Human Genome, Clinical Research, Rare Diseases, 4.1 Discovery and preclinical testing of markers and technologies, Aetiology, Detection, screening and diagnosis, 2.1 Biological and endogenous factors, Cardiovascular, Adult, Biomarkers, Carrier Proteins, DNA-Binding Proteins, Disease Progression, Exome, Familial Primary Pulmonary Hypertension, Female, Genetic Testing, Humans, Hypertension, Pulmonary, Male, Middle Aged, Mutation, Nuclear Proteins, Predictive Value of Tests, Sensitivity and Specificity, Sequence Analysis, DNA, Medical and Health Sciences, Respiratory System, Cardiovascular medicine and haematology, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1mk1r5vn

المؤلفون: Heliö, Krista, Mäyränpää, Mikko I., Saarinen, Inka, Ahonen, Saija, Junnila, Heidi, Tommiska, Johanna, Weckström, Sini, Holmström, Miia, Toivonen, Mia, Nikus, Kjell, Hathaway, Julie, Siivonen, Pauli, Muona, Mikko, Sistonen, Johanna, Salmenperä, Pertteli, Gentile, Massimiliano, Paananen, Jussi, Myllykangas, Samuel, Alastalo, Tero Pekka, Heliö, Tiina, Koskenvuo, Juha

المساهمون: Tampere University, Clinical Medicine, TAYS Heart Centre

مصطلحات موضوعية: 3111 Biomedicine

وصف الملف: fulltext

Relation: 786705; 12; https://trepo.tuni.fi/handle/10024/136416

الاتاحة: https://trepo.tuni.fi/handle/10024/136416
https://doi.org/10.3389/fgene.2021.786705

المؤلفون: Hathaway, Julie, Heliö, Krista, Saarinen, Inka, Tallila, Jonna, Seppala, Eija H., Tuupanen, Sari, Turpeinen, Hannu, Kangas-Kontio, Tiia, Schleit, Jennifer, Tommiska, Johanna, Kytola, Ville, Valori, Miko, Muona, Mikko, Sistonen, Johanna, Gentile, Massimiliano, Salmenpera, Pertteli, Myllykangas, Samuel, Paananen, Jussi, Alastalo, Tero-Pekka, Helio, Tiina, Koskenvuo, Juha

المساهمون: HUS Heart and Lung Center, Helsinki University Hospital Area, Clinicum, Department of Medicine, Doctoral Programme in Clinical Research

مصطلحات موضوعية: Hypertrophic cardiomyopathy, Genetic testing, Next generation sequencing, Diagnosis, Counseling, General medicine, internal medicine and other clinical medicine

وصف الملف: application/pdf

Relation: Hathaway , J , Heliö , K , Saarinen , I , Tallila , J , Seppala , E H , Tuupanen , S , Turpeinen , H , Kangas-Kontio , T , Schleit , J , Tommiska , J , Kytola , V , Valori , M , Muona , M , Sistonen , J , Gentile , M , Salmenpera , P , Myllykangas , S , Paananen , J , Alastalo , T-P , Helio , T & Koskenvuo , J 2021 , ' Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients ' , BMC Cardiovascular Disorders , vol. 21 , no. 1 , 126 . https://doi.org/10.1186/s12872-021-01927-5; ORCID: /0000-0001-6244-1969/work/93304017; http://hdl.handle.net/10138/329626; 6f61c275-a1fc-4645-aba1-1c0635e577af; 000625928000001

الاتاحة: http://hdl.handle.net/10138/329626

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, General medicine, internal medicine and other clinical medicine

وصف الملف: application/pdf

Relation: 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.0245681; ORCID: /0000-0001-9092-7763/work/93369592; ORCID: /0000-0001-6244-1969/work/98809033; http://hdl.handle.net/10138/329668; 8ed8a180-8cd6-4673-9a44-a54f0cea5eea; 000616739700008

الاتاحة: http://hdl.handle.net/10138/329668

المؤلفون: Scocchia, Alicia, Kangas-Kontio, Tiia, Irving, Melita, Hero, Matti, Saarinen, Inka, Pelttari, Liisa, Gall, Kimberly, Valo, Satu, Huusko, Johanna M., Tallila, Jonna, Sistonen, Johanna, Koskenvuo, Juha, Alastalo, Tero-Pekka

المصدر: Orphanet Journal of Rare Diseases ; volume 16, issue 1 ; ISSN 1750-1172

الاتاحة: http://dx.doi.org/10.1186/s13023-021-02025-7
https://link.springer.com/content/pdf/10.1186/s13023-021-02025-7.pdf
https://link.springer.com/article/10.1186/s13023-021-02025-7/fulltext.html

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

المساهمون: Farooq, Muhammad

المصدر: PLOS ONE ; volume 16, issue 9, page e0255933 ; ISSN 1932-6203

الاتاحة: http://dx.doi.org/10.1371/journal.pone.0255933
https://dx.plos.org/10.1371/journal.pone.0255933

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

URL الوصول: https://escholarship.org/uc/item/9ts1r3wn

المؤلفون: Nykänen, Päivi, Alastalo, Tero-Pekka, Ahlskog, Johanna, Horelli-Kuitunen, Nina, Pirkkala, Lila, Sistonen, Lea

المصدر: Cell Stress & Chaperones, 2001 Oct 01. 6(4), 377-385.

URL الوصول: https://www.jstor.org/stable/1602114

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

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

الاتاحة: https://trepo.tuni.fi/handle/10024/122270

المؤلفون: Akinrinade, Oyediran, Heliö, Tiina, Lekanne Deprez, Ronald H, Jongbloed, Jan D H, Boven, Ludolf G, van den Berg, Maarten P, Pinto, Yigal M, Alastalo, Tero-Pekka, Myllykangas, Samuel, van Spaendonck-Zwarts, Karin, van Tintelen, J Peter, van der Zwaag, Paul A, Koskenvuo, Juha

المصدر: Akinrinade , O , Heliö , T , Lekanne Deprez , R H , Jongbloed , J D H , Boven , L G , van den Berg , M P , Pinto , Y M , Alastalo , T-P , Myllykangas , S , van Spaendonck-Zwarts , K , van Tintelen , J P , van der Zwaag , P A & Koskenvuo , J 2020 , ' Publisher Correction : Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy ' , Scientific Reports , vol. 10 , no. 1 , 17264 . https://doi.org/10.1038/s41598-020-73763-0

وصف الملف: application/pdf

Relation: https://research.rug.nl/en/publications/83cf6348-7047-4306-a4e9-198bebe6d8c2

الاتاحة: https://hdl.handle.net/11370/83cf6348-7047-4306-a4e9-198bebe6d8c2
https://research.rug.nl/en/publications/83cf6348-7047-4306-a4e9-198bebe6d8c2
https://doi.org/10.1038/s41598-020-73763-0
https://pure.rug.nl/ws/files/136209230/s41598_020_73763_0.pdf

المؤلفون: Akinrinade, Oyediran, Heliö, Tiina, Deprez, Ronald H. Lekanne, Jongbloed, Jan D. H., Boven, Ludolf G., van den Berg, Maarten P., Pinto, Yigal M., Alastalo, Tero-Pekka, Myllykangas, Samuel, van Spaendonck-Zwarts, Karin, van Tintelen, J. Peter, van der Zwaag, Paul A., Koskenvuo, Juha

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

مصطلحات موضوعية: RIGHT-VENTRICULAR CARDIOMYOPATHY, BASE-PAIR SUBSTITUTIONS, SPLICING MUTATIONS, GENETIC-VARIATION, CONSEQUENCES, JUNCTIONS, DATABASE, MILD, FORM, General medicine, internal medicine and other clinical medicine

وصف الملف: application/pdf

Relation: We would like to thank the Exome Aggregation Consortium and Genome Aggregation Database; and the groups that provided exome and genome variant data for comparison. A full list of contributing groups can be found at http://exac.broadinstitute.org/about and http://gnomad.broadinstitute.org/about. This work was supported by grants from the Sigrid Juselius Foundation (T-PA, JK), Finnish Foundation for Cardiovascular Research (T-PA, JK, TH), Aarne Koskelo Foundation (TH), Special Governmental Subsidy (EVO) grants (TH), Ida Montin Foundation (OA), Orion Research Foundation (OA), Oskar Oflund foundation (OA), and the Netherlands Cardiovascular Research Initiative, an initiative with support of the Dutch Heart Foundation: CVON2012-10 PREDICT and CVON2014-40 DOSIS.; Akinrinade , O , Heliö , T , Deprez , R H L , Jongbloed , J D H , Boven , L G , van den Berg , M P , Pinto , Y M , Alastalo , T-P , Myllykangas , S , van Spaendonck-Zwarts , K , van Tintelen , J P , van der Zwaag , P A & Koskenvuo , J 2019 , ' Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy ' , Scientific Reports , vol. 9 , 4093 . https://doi.org/10.1038/s41598-019-39911-x; http://hdl.handle.net/10138/300695; 977602ac-03aa-4efb-95b2-da7230b25643; 85062765647; 000460751700048

الاتاحة: http://hdl.handle.net/10138/300695

المؤلفون: Orcholski, Mark E., Khurshudyan, Artyom, Shamskhou, Elya A., Yuan, Ke, Chen, Ian Y., Kodani, Sean D., Morisseau, Christophe, Hammock, Bruce D., Hong, Ellen M., Alexandrova, Ludmila, Alastalo, Tero-Pekka, Berry, Gerald, Zamanian, Roham T., Perez, Vinicio A. de Jesus

المساهمون: Clinicum, Lastentautien yksikkö, Children's Hospital, HUS Children and Adolescents

مصطلحات موضوعية: ENDOPLASMIC-RETICULUM, OXIDATIVE STRESS, DRUG-METABOLISM, AUTOPHAGIC FLUX, GENE-EXPRESSION, UNITED-STATES, CELL-DEATH, IN-VIVO, ABUSE, MUTATIONS, General medicine, internal medicine and other clinical medicine, Biomedicine

وصف الملف: application/pdf

Relation: This work was supported by a seed grant from the Vera Moulton Wall Center, a career development award from the Robert Wood Johnson Foundation, a National Heart, Lung, and Blood Institute (NHLBI) Award (R01-HL-134776, K08-HL-105884-01), and a Pulmonary Hypertension Association, American Lung Association Biomedical Research Grants, and American Heart Association Beginning Grant in Aid to V. de Jesus Perez. R. T. Zamanian is supported by funds from the NHLBI, the National Institute of Allergy and Infectious Diseases, and the Vera Moulton Wall Center. This work was partially funded by the National Institute of Environmental Health Sciences (NIEHS; P42-ES-04699). S. D. Kodani was supported by a National Institute of General Medical Sciences-funded Pharmacology Training Program Grant (T32-GM-099608). B. Hammock was supported by an NIEHS Grant (R01-ES-002710).; Orcholski , M E , Khurshudyan , A , Shamskhou , E A , Yuan , K , Chen , I Y , Kodani , S D , Morisseau , C , Hammock , B D , Hong , E M , Alexandrova , L , Alastalo , T-P , Berry , G , Zamanian , R T & Perez , V A D J 2017 , ' Reduced carboxylesterase 1 is associated with endothelial injury in methamphetamine-induced pulmonary arterial hypertension ' , American Journal of Physiology. Lung Cellular and Molecular Physiology , vol. 313 , no. 2 , pp. L252-L266 . https://doi.org/10.1152/ajplung.00453.2016; http://hdl.handle.net/10138/297910; a31ede2c-5227-47fd-86c0-5b141af5b3b1; 85026740060; 000406746900006

الاتاحة: http://hdl.handle.net/10138/297910

المؤلفون: Hansmann, Georg, Koestenberger, Martin, Alastalo, Tero-Pekka, Apitz, Christian, Austin, Eric D., Bonnet, Damien, Budts, Werner, D'Alto, Michele, Gatzoulis, Michael A., Hasan, Babar S., Kozlik-Feldmann, Rainer, Kumar, R. Krishna, Lammers, Astrid E., Latus, Heiner, Michel-Behnke, Ina, Miera, Oliver, Morrell, Nicholas W., Pieles, Guido, Quandt, Daniel, Sallmon, Hannes, Schranz, Dietmar, Tran-Lundmark, Karin, Tulloh, Robert M.R., Warnecke, Gregor, Wåhlander, Håkan, Weber, Sven C., Zartner, Peter

المصدر: The Journal of Heart and Lung Transplantation ; volume 38, issue 9, page 879-901 ; ISSN 1053-2498

الاتاحة: http://dx.doi.org/10.1016/j.healun.2019.06.022
https://api.elsevier.com/content/article/PII:S1053249819315645?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1053249819315645?httpAccept=text/plain

المؤلفون: Heliö, Krista, Hathaway, Julie, Cicerchia, Marcos, Tommiska, Johanna, Huusko, Johanna, Saarinen, Inka, Koskinen, Lotta, Muona, Mikko, Kytölä, Ville, Djupsjobacka, Janica, Gentile, Massimiliano, Salmenperä, Pertteli, Alastalo, Tero-Pekka, Heliö, Tiina, Paananen, Jussi, Myllykangas, Samuel, Koskenvuo, Juha

المصدر: Heart Rhythm ; volume 20, issue 5, page S246-S247 ; ISSN 1547-5271

الاتاحة: http://dx.doi.org/10.1016/j.hrthm.2023.03.685
https://api.elsevier.com/content/article/PII:S1547527123009906?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1547527123009906?httpAccept=text/plain

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, General medicine, internal medicine and other clinical medicine

وصف الملف: application/pdf

Relation: 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.0203422; http://hdl.handle.net/10138/250565; b050ade4-c6b0-4bff-ab20-b3a0a8cc828b; 85053623292; 000445626400022

الاتاحة: http://hdl.handle.net/10138/250565