Neurocognitive follow‐up in adult siblings with Phelan–McDermid syndrome due to a novel SHANK3 splicing site mutation

por Kankuri‐Tammilehto, Minna, Sauna‐aho, Oili, Arvio, Maria
Publicado 2021

Severe Untreated Scoliosis and Early Onset Breast Cancer in a Patient with Neurofibromatosis Associated with a Nonsense Variant of NF1 Gene

por Reinhold, Vivian, Saarinen, Antti, Suominen, Eetu, Syrjänen, Stina, Kankuri-Tammilehto, Minna
Publicado 2023

ATM c.7570G>C is a high‐risk allele for breast cancer

por Kankuri‐Tammilehto, Minna, Tervasmäki, Anna, Kraatari‐Tiri, Minna, Rahikkala, Elisa, Pylkäs, Katri, Kuismin, Outi
Publicado 2022

Copy Number Variation Analysis in Familial BRCA1/2-Negative Finnish Breast and Ovarian Cancer

por Kuusisto, Kirsi M., Akinrinade, Oyediran, Vihinen, Mauno, Kankuri-Tammilehto, Minna, Laasanen, Satu-Leena, Schleutker, Johanna
Publicado 2013

Germline EMSY sequence alterations in hereditary breast cancer and ovarian cancer families

por Määttä, Kirsi M., Nurminen, Riikka, Kankuri-Tammilehto, Minna, Kallioniemi, Anne, Laasanen, Satu-Leena, Schleutker, Johanna
Publicado 2017

Genetic, clinic and histopathologic characterization of BRCA-associated hereditary breast and ovarian cancer in southwestern Finland

por Pallonen, Terhi Aino-Sofia, Lempiäinen, Salla Maria Matleena, Joutsiniemi, Titta Kristiina, Aaltonen, Riitta Irmeli, Pohjola, Pia Erika, Kankuri-Tammilehto, Minna Kristiina
Publicado 2022

Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland

por Järvelä, Irma, Määttä, Tuomo, Acharya, Anushree, Leppälä, Juha, Jhangiani, Shalini N., Arvio, Maria, Siren, Auli, Kankuri-Tammilehto, Minna, Kokkonen, Hannaleena, Palomäki, Maarit, Varilo, Teppo, Fang, Mary, Hadley, Trevor D., Jolly, Angad, Linnankivi, Tarja, Paetau, Ritva, Saarela, Anni, Kälviäinen, Reetta, Olme, Jan, Nouel-Saied, Liz M., Cornejo-Sanchez, Diana M., Llaci, Lorida, Lupski, James R., Posey, Jennifer E., Leal, Suzanne M., Schrauwen, Isabelle
Publicado 2021