Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Minna Kankuri-Tammilehto"'
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 12, Pp n/a-n/a (2023)
Abstract Background Ectodermal dysplasias are inherited disorders, which are characterized by congenital defects in two or more ectodermal structures such as skin, sweat glands, hair, nails, teeth, and mucous membranes. Method Here, we describe a new
Externí odkaz:
https://doaj.org/article/cc60e52c60b74a9b8053ae6cf7222ed3
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)
Abstract Background Phelan–McDermid syndrome (PMD) is usually not only caused by 22q13.3 deletion but also pathogenic variants (mutations) of SHANK3 gene. PMD is characterized by global intellectual disability, severely delayed or absent speech, an
Externí odkaz:
https://doaj.org/article/622024943e5f4ca08ceda7b30ed60b6e
Autor:
Kirsi M. Määttä, Riikka Nurminen, Minna Kankuri-Tammilehto, Anne Kallioniemi, Satu-Leena Laasanen, Johanna Schleutker
Publikováno v:
BMC Cancer, Vol 17, Iss 1, Pp 1-8 (2017)
Abstract Background BRCA1 and BRCA2 mutations explain approximately one-fifth of the inherited susceptibility in high-risk Finnish hereditary breast and ovarian cancer (HBOC) families. EMSY is located in the breast cancer-associated chromosomal regio
Externí odkaz:
https://doaj.org/article/d7ef779a1fc74cb89b3f645d2aa0a1b0
Autor:
Kirsi M Kuusisto, Oyediran Akinrinade, Mauno Vihinen, Minna Kankuri-Tammilehto, Satu-Leena Laasanen, Johanna Schleutker
Publikováno v:
PLoS ONE, Vol 8, Iss 8, p e71802 (2013)
BackgroundInherited factors predisposing individuals to breast and ovarian cancer are largely unidentified in a majority of families with hereditary breast and ovarian cancer (HBOC). We aimed to identify germline copy number variations (CNVs) contrib
Externí odkaz:
https://doaj.org/article/4842ef037dbe436a9fc91a1bc1c7d1af
Publikováno v:
Anticancer Research. 43:2645-2657
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::727a10f123ac542916886c3fe9b2fe4c
https://doi.org/10.21873/anticanres.16431
https://doi.org/10.21873/anticanres.16431
Autor:
Minna Kankuri‐Tammilehto, Anna Tervasmäki, Minna Kraatari‐Tiri, Elisa Rahikkala, Katri Pylkäs, Outi Kuismin
Publikováno v:
International journal of cancerREFERENCES. 152(3)
ATM is generally described as a moderate-risk breast cancer susceptibility gene. However, some of ATM variants might encounter higher risk. ATM c.7570GC, p.Ala2524Pro, (rs769142993) is a pathogenic Finnish founder variant causative for recessively in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3249ab08cbc5d63a76651d7ebb02c4cc
https://pubmed.ncbi.nlm.nih.gov/36161273
https://pubmed.ncbi.nlm.nih.gov/36161273
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)
Background Phelan–McDermid syndrome (PMD) is usually not only caused by 22q13.3 deletion but also pathogenic variants (mutations) of SHANK3 gene. PMD is characterized by global intellectual disability, severely delayed or absent speech, and feature
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b3e896d5174f099b051ca9f5c38988d
https://doi.org/10.1002/mgg3.1780
https://doi.org/10.1002/mgg3.1780
Autor:
Anni Saarela, Suzanne M. Leal, Juha Leppälä, Lorida Llaci, Minna Kankuri-Tammilehto, Anushree Acharya, Tuomo Määttä, Jennifer E. Posey, Diana M Cornejo-Sanchez, Irma Järvelä, James R. Lupski, Auli Siren, Ritva Paetau, Angad Jolly, Tarja Linnankivi, Shalini N. Jhangiani, Teppo Varilo, Jan Olme, Liz M Nouel-Saied, Trevor D. Hadley, Isabelle Schrauwen, Hannaleena Kokkonen, Reetta Kälviäinen, Maarit Palomäki, Mary Fang, Maria Arvio
Publikováno v:
Human Genetics
The genetics of autosomal recessive intellectual disability (ARID) has mainly been studied in consanguineous families, however, founder populations may also be of interest to study intellectual disability (ID) and the contribution of ARID. Here, we u
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8475d41092b52fce48df5ff7c780b5d
https://trepo.tuni.fi/handle/10024/132380
https://trepo.tuni.fi/handle/10024/132380
Autor:
Minna Kankuri-Tammilehto, Johanna Schleutker, Satu-Leena Laasanen, Anna Lindström, Matti Nykter, Tommi Rantapero, Kirsi Määttä
Publikováno v:
European Journal of Human Genetics. 25
A remarkable proportion of factors causing genetic predisposition to breast cancer (BC) are unknown in non-BRCA1/2 families. Exome sequencing was performed for 13 high-risk Finnish hereditary breast and/or ovarian cancer (HBOC) families to detect var
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::196065846eee19ae790845fb9befe49a
https://doi.org/10.1038/ejhg.2016.141
https://doi.org/10.1038/ejhg.2016.141