Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Rahikkala, E. (Elisa)"'
Autor:
Lähteenoja, L. (Laura), Häkli, S. (Sanna), Tuupanen, S. (Sari), Kuismin, O. (Outi), Palosaari, T. (Tapani), Rahikkala, E. (Elisa), Falck, A. (Aura)
Background: Pathogenic variants in the CEP78 gene can present as atypical Usher syndrome or as retinitis pigmentosa. Here, we present a review of all reported cases of CEP78 variants in the literature to date and present a novel variant of CEP78, c.1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2423::afb9e2a827923a4e264c235e1c8fcb24
http://urn.fi/urn:nbn:fi-fe2022092159767
http://urn.fi/urn:nbn:fi-fe2022092159767
Salla disease (SD) is a rare lysosomal storage disorder characterised by intellectual disability ataxia, athetosis, nystagmus, and central nervous system demyelination. Although the neurological spectrum of SD’s clinical phenotype is well defined,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2423::ef9eac1224fb66b532db903fba5f49f2
http://urn.fi/urn:nbn:fi-fe2022102763546
http://urn.fi/urn:nbn:fi-fe2022102763546
Autor:
Uusimaa, J. (Johanna), Kettunen, J. (Johannes), Varilo, T. (Teppo), Järvelä, I. (Irma), Kallijärvi, J. (Jukka), Kääriäinen, H. (Helena), Laine, M. (Minna), Lapatto, R. (Risto), Myllynen, P. (Päivi), Niinikoski, H. (Harri), Rahikkala, E. (Elisa), Suomalainen, A. (Anu), Tikkanen, R. (Ritva), Tyynismaa, H. (Henna), Vieira, P. (Päivi), Zarybnicky, T. (Tomas), Sipilä, P. (Petra), Kuure, S. (Satu), Hinttala, R. (Reetta)
Isolated populations have been valuable for the discovery of rare monogenic diseases and their causative genetic variants. Finnish disease heritage (FDH) is an example of a group of hereditary monogenic disorders caused by single major, usually autos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2423::ae5f5a49a877a717fdd0e03f166f916e
http://urn.fi/urn:nbn:fi-fe2023070481032
http://urn.fi/urn:nbn:fi-fe2023070481032
Autor:
Vieira, P. (Päivi), Nagy, I. I. (Irina I.), Rahikkala, E. (Elisa), Väisänen, M.-L. (Marja-Leena), Latva, K. (Katariina), Kaunisto, K. (Kari), Valmari, P. (Pekka), Keski-Filppula, R. (Riikka), Haanpää, M. K. (Maria K.), Virpi Sidoroff, V. (Virpi), Miettinen, P. J. (Päivi J.), Arkkola, T. (Tuula), Ojaniemi, M. (Marja), Nuutinen, M. (Matti), Uusimaa, J. (Johanna), Myllynen, P. (Päivi)
Cytosolic phosphoenolpyruvate carboxykinase (PEPCK-C) deficiency due to the homozygous PCK1 variant has recently been associated with childhood-onset hypoglycemia with a recognizable pattern of abnormal urine organic acids. In this study, 21 children
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2423::0855a8cc68be4c9a469fb822cc1a40d0
http://urn.fi/urn:nbn:fi-fe2021113057914
http://urn.fi/urn:nbn:fi-fe2021113057914
Autor:
Kankuri-Tammilehto, M. (Minna), Tervasmäki, A. (Anna), Kraatari-Tiri, M. (Minna), Rahikkala, E. (Elisa), Pylkäs, K. (Katri), Kuismin, O. (Outi)
ATM is generally described as a moderate-risk breast cancer susceptibility gene. However, some of ATM variants might encounter higher risk. ATM c.7570G>C, p.Ala2524Pro, (rs769142993) is a pathogenic Finnish founder variant causative for recessively i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2423::68033370f358a50708f7b3a406e863e0
http://urn.fi/urn:nbn:fi-fe2022112466782
http://urn.fi/urn:nbn:fi-fe2022112466782
Autor:
Komulainen-Ebrahim, J. (Jonna), Schreiber, J. M. (John M.), Kangas, S. M. (Salla M.), Pylkäs, K. (Katri), Suo-Palosaari, M. (Maria), Rahikkala, E. (Elisa), Liinamaa, J. (Johanna), Immonen, E.-V. (Esa-Ville), Hassinen, I. (Ilmo), Myllynen, P. (Päivi), Rantala, H. (Heikki), Hinttala, R. (Reetta), Uusimaa, J. (Johanna)
Purpose: Next-generation sequencing (NGS) has made genetic testing of patients with epileptic encephalopathies easier — novel variants are discovered and new phenotypes described. Variants in the same gene — even the same variant — can cause di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2423::336b390b5742ae12a5d733775b4f20f4
http://urn.fi/urn:nbn:fi-fe2019091328123
http://urn.fi/urn:nbn:fi-fe2019091328123