Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Jonna Tallila"'
Autor:
Alicia Scocchia, Tiia Kangas-Kontio, Melita Irving, Matti Hero, Inka Saarinen, Liisa Pelttari, Kimberly Gall, Satu Valo, Johanna M. Huusko, Jonna Tallila, Johanna Sistonen, Juha Koskenvuo, Tero-Pekka Alastalo
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Abstract Background Skeletal dysplasia is typically diagnosed using a combination of radiographic imaging, clinical examinations, and molecular testing. Identifying a molecular diagnosis for an individual with a skeletal dysplasia can lead to improve
Externí odkaz:
https://doaj.org/article/1b5eb1816ae944fb88155d0665c41bec
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:
Alicia Scocchia, Tiia Kangas-Kontio, Melita Irving, Matti Hero, Inka Saarinen, Liisa Pelttari, Kimberly Gall, Satu Valo, Johanna M. Huusko, Jonna Tallila, Johanna Sistonen, Juha Koskenvuo, Tero-Pekka Alastalo
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-1 (2022)
Externí odkaz:
https://doaj.org/article/3e17cc68d8164bccbc8234356c07f083
Autor:
Dirk S. Paul, James P. Nisbet, Tsun-Po Yang, Stuart Meacham, Augusto Rendon, Katta Hautaviita, Jonna Tallila, Jacqui White, Marloes R. Tijssen, Suthesh Sivapalaratnam, Hanneke Basart, Mieke D. Trip, Berthold Göttgens, Nicole Soranzo, Willem H. Ouwehand, Panos Deloukas
Publikováno v:
PLoS Genetics, Vol 7, Iss 7 (2011)
Externí odkaz:
https://doaj.org/article/a5ef98f32391482c904d1718d127f52e
Autor:
Dirk S Paul, James P Nisbet, Tsun-Po Yang, Stuart Meacham, Augusto Rendon, Katta Hautaviita, Jonna Tallila, Jacqui White, Marloes R Tijssen, Suthesh Sivapalaratnam, Hanneke Basart, Mieke D Trip, Cardiogenics Consortium, MuTHER Consortium, Berthold Göttgens, Nicole Soranzo, Willem H Ouwehand, Panos Deloukas
Publikováno v:
PLoS Genetics, Vol 7, Iss 6, p e1002139 (2011)
Turning genetic discoveries identified in genome-wide association (GWA) studies into biological mechanisms is an important challenge in human genetics. Many GWA signals map outside exons, suggesting that the associated variants may lie within regulat
Externí odkaz:
https://doaj.org/article/c8cb1fcc310b42ed9da518a24cff6dc7
Autor:
Johanna Sistonen, Melita Irving, Matti Hero, Tiia Kangas-Kontio, Inka Saarinen, Satu Valo, Alicia Scocchia, Kimberly Gall, Liisa Pelttari, Johanna M. Huusko, Juha Koskenvuo, Jonna Tallila, Tero-Pekka Alastalo
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background Skeletal dysplasia is typically diagnosed using a combination of radiographic imaging, clinical examinations, and molecular testing. Identifying a molecular diagnosis for an individual with a skeletal dysplasia can lead to improved clinica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::120f9fb5257a2aebf5c128f5540b8e6b
http://hdl.handle.net/10138/342319
http://hdl.handle.net/10138/342319
Autor:
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
Publikováno v:
BMC Cardiovascular Disorders, Vol 21, Iss 1, Pp 1-11 (2021)
BMC Cardiovascular Disorders
BMC Cardiovascular Disorders
BackgroundGenetic 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 studies and car
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d184e5436f5dd41a871cbeaa2fbb7fd
http://hdl.handle.net/10138/329626
http://hdl.handle.net/10138/329626
Autor:
Marita Isokallio, Jonna Tallila, Khalida Liaquat, Miko Valori, Pertteli Salmenperä, Massimiliano Gentile, Jennifer Schleit, Juha Koskenvuo, Tero-Pekka Alastalo, Johanna Sistonen, Ville Kytola, Pauli Siivonen
Publikováno v:
Molecular Genetics and Metabolism. 132:S229
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cc36ba53016e4cc4db663d93d670b426
https://doi.org/10.1016/s1096-7192(21)00435-2
https://doi.org/10.1016/s1096-7192(21)00435-2
Autor:
Anita Hiippala, Anu Suomalainen, Catalina Vasilescu, Liliya Euro, Jonna Tallila, Tiina Tyni, Tero-Pekka Alastalo, Anders Paetau, Tiina Ojala
Publikováno v:
American Journal of Medical Genetics Part A. 170:1433-1438
We report a 10-year-old girl presenting with severe neonatal hypertrophic cardiomyopathy (HCM), feeding difficulties, mildly abnormal facial features, and progressive skeletal muscle symptoms but with normal cognitive development. Targeted oligonucle
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd0e50de4ebb4d2b794fba3537ec7bf9
https://doi.org/10.1002/ajmg.a.37596
https://doi.org/10.1002/ajmg.a.37596
Autor:
Jonna Tallila, Massimiliano Gentile, Samuel Myllykangas, Maija Kaartinen, Pertteli Salmenperä, Sanna Vattulainen, Tero-Pekka Alastalo, Laura Ollila, Hannele Koillinen, Juha Koskenvuo, Tiina Heliö, Oyediran Akinrinade, Markku S. Nieminen
Publikováno v:
European Heart Journal
Genetic analysis among patients with dilated cardiomyopathy (DCM) is becoming an important part of clinical assessment, as it is in hypertrophic cardiomyopathy (HCM). The genetics of DCM is complex and therefore next-generation sequencing strategies
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e498a0b9a09312ffc8aa515446be8bf7
http://europepmc.org/articles/PMC4561350
http://europepmc.org/articles/PMC4561350