Zobrazeno 1 - 10
of 43
pro vyhledávání: '"Mikko Muona"'
Autor:
Julie Hathaway, Johanna Huusko, Marcos Cicerchia, Saija Ahonen, Johanna Tommiska, Kim Gall, Khalida Liaquat, Victoria Howell, Allison Sluyters, Janica Djupsjöbacka, Mikko Muona, Inka Saarinen, Eija Seppala, Tiia Kangas-Kontio, Lotta Koskinen, Pertteli Salmenperä, Samuel Myllykangas, Juha Koskenvuo
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101483- (2024)
Externí odkaz:
https://doaj.org/article/a822691791e947248e642611c8d63849
Autor:
Kim Gall, Julie Hathaway, Lotta Koskinen, Kirsi Alakurtti, Äsa Hagström, Monica Segura, Heli Kuisma, Eija Seppala, Janica Djupsjöbacka, Mikko Muona, Tuuli Pietila, Pertteli Salmenperä, Inka Saarinen, Ray Veeraraghavan, Samuel Myllykangas, Juha Koskenvuo
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101528- (2024)
Externí odkaz:
https://doaj.org/article/601aee9ca70a427c8ab15984647b8e13
Autor:
Lotta Koskinen, Margarita Andreevskaya, Mikko Muona, Tuuli Pietila, Janica Djupsjöbacka, Ville Kytölä, Kati Kämpjärvi, Samuel Myllykangas, Pertteli Salmenperä, Juha Koskenvuo, Miko Valori
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101532- (2024)
Externí odkaz:
https://doaj.org/article/825c7baea0ca430e817bb23ecc0044d0
Autor:
Krista Heliö, Marcos Cicerchia, Julie Hathaway, Johanna Tommiska, Johanna Huusko, Inka Saarinen, Lotta Koskinen, Mikko Muona, Ville Kytölä, Janica Djupsjöbacka, Massimiliano Gentile, Pertteli Salmenperä, Tero-Pekka Alastalo, Christian Steinberg, Tiina Heliö, Jussi Paananen, Samuel Myllykangas, Juha Koskenvuo
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 10 (2023)
BackgroundFamilial dilated cardiomyopathy (DCM) causes heart failure and may lead to heart transplantation. DCM is typically a monogenic disorder with autosomal dominant inheritance. Currently disease-causing variants have been reported in over 60 ge
Externí odkaz:
https://doaj.org/article/ff822a1fa0e341c99b73042e74defdfd
Autor:
Kimberly Gall, Julie Hathaway, Victoria Howell, Alicia Scocchia, Allison Sluyters, Inka Saarinen, Tiia Kangas-Kontio, Milja Kaare, Kirsty Wells, Maria Calvo del Castillo, Mikko Muona, Tuuli Pietila, Matias Rantanen, Massimiliano Gentile, Pertelli Salmenperä, Jussi Paananen, Samuel Myllykangas, Juha Koskenvuo
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100512- (2023)
Externí odkaz:
https://doaj.org/article/9d7ca44a1e8542b1baab457c055644db
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:
Krista Heliö, Mikko I. Mäyränpää, Inka Saarinen, Saija Ahonen, Heidi Junnila, Johanna Tommiska, Sini Weckström, Miia Holmström, Mia Toivonen, Kjell Nikus, Julie Hathaway, Pauli Siivonen, Mikko Muona, Johanna Sistonen, Pertteli Salmenperä, Massimiliano Gentile, Jussi Paananen, Samuel Myllykangas, Tero-Pekka Alastalo, Tiina Heliö, Juha Koskenvuo
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Background: Familial dilated cardiomyopathy (DCM) is a monogenic disorder typically inherited in an autosomal dominant pattern. We have identified two Finnish families with familial cardiomyopathy that is not explained by a variant in any previously
Externí odkaz:
https://doaj.org/article/1aa59acef3044845853059e28698c9e3
Autor:
Svetlana Vakkilainen, Laura Puhakka, Paula Klemetti, Kaarina Heiskanen, Mikko Seppänen, Mikko Muona, Celine Posseme, Darragh Duffy, Timo Väisänen, Outi Elomaa, Maarit Palomäki, Harri Saxén, Annamari Ranki, Katariina Hannula-Jouppi
Publikováno v:
Acta Dermato-Venereologica, Vol 99, Iss 9, Pp 789-796 (2019)
Desmoplakin (DSP) and Desmoglein 1 (DSG1) variants result in skin barrier defects leading to erythroderma, palmoplantar keratoderma and variable [AQ4] other features. Some DSG1 variant carriers present with SAM syndrome (Severe dermatitis, multiple A
Externí odkaz:
https://doaj.org/article/ea51798fe2ea4e9f8834bf9e0e71c48c
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:
Ebru Nur Vanlı Yavuz, Güneş Altıokka, Zeliha Matur, Mikko Muona, Nerses Bebek, Candan Gürses, Anna Elina Lehesjoki, Ayşen Gökyiğit, Betül Baykan
Publikováno v:
Türk Nöroloji Dergisi, Vol 22, Iss 2, Pp 84-87 (2016)
Sialidosis are autosomal recessive inherited disorders caused by a mutation on the NEU1 gene. In type 1 sialidosis, a “cherry-red spot” can be observed in fundoscopic examinations. In this study, a woman aged 37 years without “cherry-red spot
Externí odkaz:
https://doaj.org/article/9d27b9108a504ab181830805cb7a2678