Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Sandra Vorimo"'
Autor:
Timo A Kumpula, Sandra Vorimo, Taneli T Mattila, Luke O'Gorman, Galuh Astuti, Anna Tervasmäki, Susanna Koivuluoma, Tiina M Mattila, Mervi Grip, Robert Winqvist, Outi Kuismin, Jukka Moilanen, Alexander Hoischen, Christian Gilissen, Tuomo Mantere, Katri Pylkäs
Publikováno v:
PLoS Genetics, Vol 19, Iss 8, p e1010889 (2023)
Copy number variants (CNVs) are a major source of genetic variation and can disrupt genes or affect gene dosage. They are known to be causal or underlie predisposition to various diseases. However, the role of CNVs in inherited breast cancer suscepti
Externí odkaz:
https://doaj.org/article/39bcaeff36374f21a232d35722e005e7
Autor:
Andriana Valkama, Sandra Vorimo, Timo A. Kumpula, Hannele Räsänen, Eeva-Riitta Savolainen, Katri Pylkäs, Tuomo Mantere
Publikováno v:
Cancers, Vol 15, Iss 4, p 1294 (2023)
The fluorescence in situ hybridization (FISH) technique plays an important role in the risk stratification and clinical management of patients with chronic lymphocytic leukemia (CLL). For genome-wide analysis, FISH needs to be complemented with other
Externí odkaz:
https://doaj.org/article/43933b42b7134076be87970183658493
Autor:
Timo A. Kumpula, Susanna Koivuluoma, Leila Soikkonen, Sandra Vorimo, Jukka Moilanen, Robert Winqvist, Tuomo Mantere, Outi Kuismin, Katri Pylkäs
Publikováno v:
Familial Cancer.
CHEK2 is a well-established breast cancer susceptibility gene. The most frequent pathogenic CHEK2 variant is 1100delC, a loss-of-function mutation conferring 2-fold risk for breast cancer. This gene also harbors other rare variants encountered in the
Autor:
Susanna Koivuluoma, Sandra Vorimo, Tiina M. Mattila, Anna Tervasmäki, Timo Kumpula, Outi Kuismin, Robert Winqvist, Jukka Moilanen, Tuomo Mantere, Katri Pylkäs
TINF2 is a critical subunit of the shelterin complex, which protects and maintains the length of telomeres. Pathogenic missense and truncating TINF2 mutations are causative for dyskeratosis congenita (DC), a rare, dominantly inherited bone marrow fai
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f82ca51eaee43bed77387d88cb2876ed
http://urn.fi/urn:nbn:fi-fe2023053150756
http://urn.fi/urn:nbn:fi-fe2023053150756