المؤلفون: 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

المصدر: BMC Cardiovascular Disorders, Vol 21, Iss 1, Pp 1-11 (2021)

مصطلحات موضوعية: Hypertrophic cardiomyopathy, Genetic testing, Next generation sequencing, Diagnosis, Counseling, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2261

URL الوصول: https://doaj.org/article/1a8328a56c1a4010ae5eb9b873a650f5

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

المصدر: ERJ Open Research, Vol 8, Iss 1 (2022)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: http://openres.ersjournals.com/content/8/1/00583-2021.full; https://doaj.org/toc/2312-0541

URL الوصول: https://doaj.org/article/1636d8a55b6544429c4981c3637dfa5a

المؤلفون: Sami Qadri, Olli Anttonen, Juho Viikilä, Eija H. Seppälä, Samuel Myllykangas, Tero-Pekka Alastalo, Miia Holmström, Tiina Heliö, Juha W. Koskenvuo

المصدر: BMC Medical Genetics, Vol 18, Iss 1, Pp 1-9 (2017)

مصطلحات موضوعية: Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathies, Desmosomes, DSG2, Mutation, Case series, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-017-0442-3; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/a09bc8e7efa144e099e2425cd39ed050

المؤلفون: 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

المصدر: Neurobiology of Disease, Vol 42, Iss 3, Pp 468-474 (2011)

مصطلحات موضوعية: ATP13A2, Kufs disease, PARK9, Kufor-Rakeb syndrome, Parkinson's disease, Dog, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996111000635; https://doaj.org/toc/1095-953X

URL الوصول: https://doaj.org/article/f40ebbfe3986422681439c3d7e637cd3

المؤلفون: 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

المساهمون: Université de Liège, RIKEN Center for Integrative Medical Sciences [Yokohama] (RIKEN IMS), RIKEN - Institute of Physical and Chemical Research [Japon] (RIKEN), Helsingin yliopisto = Helsingfors universitet = University of Helsinki, University of Copenhagen = Københavns Universitet (UCPH), The Danish Kennel Club [Danemark] (DKC), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Unité de Cardiologie d'Alfort [Maisons-Alfort] (UCA), École nationale vétérinaire - Alfort (ENVA)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Biologie du système neuromusculaire - Biology of the neuromuscular system [Maisons-Alfort] (BNMS - Team 10), École nationale vétérinaire - Alfort (ENVA)-Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), This work was funded by Grant from the European Commission (FP7-LUPA, GA-201370) to M.G., Mochida Memorial Foundation for Medical and Pharmaceutical Research to Y.M., and Jane and Aatos Erkko Foundation, The Academy of Finland and the Sigrid Juselius Foundation to H.L. Y.M. benefitted from fellowship from Grant-in-Aid for JSPS Fellows and Postdoctoral Fellowship for Research Abroad from JSPS., European Project: 201370,EC:FP7:HEALTH,FP7-HEALTH-2007-A,LUPA(2008), University of Helsinki, University of Copenhagen = Københavns Universitet (KU), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-IFR10, École nationale vétérinaire d'Alfort (ENVA)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), École nationale vétérinaire d'Alfort (ENVA)-Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-IFR10-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-IFR10, Equine and Small Animal Medicine, Maria Wiberg / Principal Investigator, University Management, Department of Medical and Clinical Genetics, Veterinary Biosciences, Helsinki One Health (HOH), Hannes Tapani Lohi / Principal Investigator, Veterinary Genetics, Biosciences, Bodescot, Myriam, Unravelling the molecular basis of common complex human disorders using the dog as a model system - LUPA - - EC:FP7:HEALTH2008-01-01 - 2012-06-30 - 201370 - VALID

المصدر: 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

مصطلحات موضوعية: Male, Quantitative trait loci, GOLDEN RETRIEVER DOGS, LOCI, lcsh:Medicine, Genome-wide association study, Locus (genetics), [SDV.GEN.GA] Life Sciences [q-bio]/Genetics/Animal genetics, Disease, Breeding, Biology, 413 Veterinary science, Polymorphism, Single Nucleotide, Genome-wide association studies, DISEASE, Chromosomes, Article, 03 medical and health sciences, chemistry.chemical_compound, Dogs, 0302 clinical medicine, Animals, Humans, SNP, Genetic Predisposition to Disease, Dog Diseases, lcsh:Science, Animal breeding, 030304 developmental biology, Chromosome 13, Genetics, ARCHITECTURE, 0303 health sciences, COMPLEX, Multidisciplinary, lcsh:R, 1184 Genetics, developmental biology, physiology, Alanine Transaminase, [SDV.GEN.GA]Life Sciences [q-bio]/Genetics/Animal genetics, SIZE, Phenotype, Fructosamine, chemistry, Cohort, Physical exam, lcsh:Q, 030217 neurology & neurosurgery, Genome-Wide Association Study

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a90edbb51099826c001e750b0751e9aa
http://link.springer.com/article/10.1038/s41598-020-63457-y

المؤلفون: Hannes Lohi, Sofia Hanås, Katja Höglund, Vassiliki Gouni, Dominique Peeters, Valérie Chetboul, Laurent Tiret, Merete Fredholm, Eija H. Seppälä, Kathleen McEntee, Evelyne Moyse, Frédéric Farnir, Carlos Gomez-Fernandez-Blanco, Anne-Christine Merveille, J.L. Willesen, Maria Wiberg, Anne-Sophie Lequarré, Jens Häggström

المصدر: Veterinary clinical pathology, 47 (4

مصطلحات موضوعية: Blood Glucose, Male, Cholesterol -- blood, Fructosamine -- blood, medicine.medical_treatment, Physiology, Fatty Acids, Nonesterified, Triglycerides -- blood, 0403 veterinary science, chemistry.chemical_compound, Reference Values, Insulin, fructosamine, 04 agricultural and veterinary sciences, Sciences bio-médicales et agricoles, Breed, 3. Good health, C-Reactive Protein, Cholesterol, Fructosamine, decision limits, Female, Canine RI, insulin, 040301 veterinary sciences, Biomarkers -- blood, Carbohydrate metabolism, Biology, Insulin -- blood, metabolic syndrome, Dogs, Species Specificity, Diabetes mellitus, Anamnèse - diagnostic [biologie clinique], medicine, Animals, C-Reactive Protein -- analysis, Dogs -- blood -- metabolism, Triglycerides, General Veterinary, 0402 animal and dairy science, Blood Glucose -- analysis, cholesterol, Glucose -- metabolism, Lipid Metabolism, medicine.disease, 040201 dairy & animal science, Obesity, Fatty Acids, Nonesterified -- blood, Glucose, chemistry, Metabolic syndrome, Biomarkers

وصف الملف: 1 full-text file(s): application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d901d10e9423f0860cb5d53b6d411943
https://doi.org/10.1111/vcp.12673

المؤلفون: Avni Santani, Stefan Rentas, Eija H. Seppälä, Steven M. Harrison, Lisa M. Vincent, Andrew S. McFaddin, Christin D. Collins, Juha Koskenvuo, Brian H. Shirts, Hane Lee, Rong Mao, Scott Topper, Soma Das, Olga Jarinova, Wenjie Chen, Heidi L. Rehm, Krista Moyer, Rebecca Mar-Heyming, John Garcia, Kathy M. B. Vinette, Kathryn B. Garber, Joshua L. Deignan, Amy E. Knight Johnson, Timothy Tidwell, Narasimhan Nagan, Jill S. Dolinksy

المصدر: Human Mutation. 39:1641-1649

مصطلحات موضوعية: 0301 basic medicine, Genome, Human, business.industry, Genetic Variation, Biology, computer.software_genre, Article, Majority consensus, 03 medical and health sciences, 030104 developmental biology, Databases, Genetic, Outlier, Genetics, Humans, Genetic Testing, Artificial intelligence, business, computer, Genetics (clinical), Natural language processing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::870f174084982c589fbfe3660e785533
https://doi.org/10.1002/humu.23643

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

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

المصدر: BMC Cardiovascular Disorders, Vol 21, Iss 1, Pp 1-11 (2021)
BMC Cardiovascular Disorders

مصطلحات موضوعية: Male, Counseling, lcsh:Diseases of the circulatory (Cardiovascular) system, Genetic testing, Cardiomyopathy, 030204 cardiovascular system & hematology, 0302 clinical medicine, Risk Factors, Diagnosis, Family history, Child, 0303 health sciences, education.field_of_study, medicine.diagnostic_test, Hypertrophic cardiomyopathy, 3. Good health, Phenotype, Child, Preschool, Cohort, Female, Cardiology and Cardiovascular Medicine, Research Article, Adult, Genetic Markers, medicine.medical_specialty, Adolescent, Population, RASopathy, Risk Assessment, Young Adult, 03 medical and health sciences, Predictive Value of Tests, Internal medicine, Next generation sequencing, medicine, Humans, Genetic Predisposition to Disease, education, Retrospective Studies, 030304 developmental biology, business.industry, Genetic Variation, Infant, Cardiomyopathy, Hypertrophic, medicine.disease, lcsh:RC666-701, 3121 General medicine, internal medicine and other clinical medicine, Etiology, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d184e5436f5dd41a871cbeaa2fbb7fd
http://hdl.handle.net/10138/329626

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

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

المصدر: PLoS ONE
PLoS ONE, Vol 16, Iss 2, p e0245681 (2021)

مصطلحات موضوعية: Male, 0301 basic medicine, Proband, Oncology, Heredity, Cardiovascular Procedures, Muscle Proteins, PROTEIN, Cardiovascular Medicine, 030204 cardiovascular system & hematology, Homozygosity, Medical Conditions, 0302 clinical medicine, Loss of Function Mutation, N-RAP, Medicine and Health Sciences, Missense mutation, NRAP, Exome sequencing, Dilated Cardiomyopathy, Heterozygosity, Multidisciplinary, medicine.diagnostic_test, Dilated cardiomyopathy, LOCALIZATION, Genomics, Middle Aged, Cardiac Transplantation, musculoskeletal system, Penetrance, 3. Good health, Cardiovascular Diseases, Child, Preschool, cardiovascular system, Medicine, Female, Cardiomyopathies, Research Article, Adult, Cardiomyopathy, Dilated, medicine.medical_specialty, GENETICS, Science, Cardiology, Surgical and Invasive Medical Procedures, Young Adult, 03 medical and health sciences, Genomic Medicine, Internal medicine, medicine, Humans, Genetic Testing, cardiovascular diseases, Allele, Alleles, Retrospective Studies, Genetic testing, Clinical Genetics, Heart Failure, Transplantation, LANDSCAPE, business.industry, MUTATIONS, Biology and Life Sciences, Human Genetics, Organ Transplantation, medicine.disease, 030104 developmental biology, Genetic Loci, 3121 General medicine, internal medicine and other clinical medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba81c9e7cc43c22f62715634c74af463
http://hdl.handle.net/10138/329668

المؤلفون: Merete Fredholm, J. Lundgren Willesen, L. Mejer Sørensen, Anne-Sophie Lequarré, Valérie Chetboul, Katja Höglund, K. Mc Entee, Eija H. Seppälä, Hannes Lohi, Vassiliki Gouni, Laurent Tiret, Anne-Christine Merveille, Sofia Hanås, Ingrid Ljungvall, Jens Häggström, Maria Wiberg

المساهمون: Doctoral Programme in Clinical Veterinary Medicine, Maria Wiberg / Principal Investigator, Equine and Small Animal Medicine, Departments of Faculty of Veterinary Medicine, University of Helsinki, Research Programs Unit, Research Programme for Molecular Neurology, Doctoral Programme in Integrative Life Science, Hannes Tapani Lohi / Principal Investigator

المصدر: Journal of Veterinary Cardiology. 20:244-253

مصطلحات موضوعية: Male, EXPRESSION, 0301 basic medicine, Cardiac function curve, Serotonin, Time Factors, Heart disease, KING CHARLES SPANIELS, 040301 veterinary sciences, Physiology, 5-HT, Enzyme-Linked Immunosorbent Assay, Breed difference, HEART-DISEASE, 413 Veterinary science, Specimen Handling, Canine, 0403 veterinary science, 03 medical and health sciences, Dogs, Species Specificity, CARDIAC-FUNCTION, Interquartile range, PLATELET SEROTONIN, medicine, Animals, Heart valve, BREED, Myxomatous mitral valve, 2. Zero hunger, PLASMA, General Veterinary, business.industry, Biomarker, 04 agricultural and veterinary sciences, medicine.disease, MITRAL-VALVE DISEASE, Breed, 030104 developmental biology, medicine.anatomical_structure, Echocardiography, Biomarker (medicine), Female, PERIPHERAL SEROTONIN, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97930c7518798ad73c0676ce2d77ac91
https://doi.org/10.1016/j.jvc.2018.05.002