Evaluating the role of MLH3 p.Ser1188Ter variant in inherited breast cancer predisposition

por Koivuluoma, Susanna, Winqvist, Robert, Keski-Filppula, Riikka, Kuismin, Outi, Moilanen, Jukka, Pylkäs, Katri
Publicado 2019

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

Mutation Analysis of Inhibitory Guanine Nucleotide Binding Protein Alpha (GNAI) Loci in Young and Familial Pituitary Adenomas

por Demir, Hande, Donner, Iikki, Kivipelto, Leena, Kuismin, Outi, Schalin-Jäntti, Camilla, De Menis, Ernesto, Karhu, Auli
Publicado 2014

Medulloblastoma, macrocephaly, and a pathogenic germline PTEN variant: Cause or coincidence?

por Tolonen, Jussi‐Pekka, Hekkala, Anne, Kuismin, Outi, Tuominen, Hannu, Suo‐Palosaari, Maria, Tynninen, Olli, Niinimäki, Riitta
Publicado 2020

A nearly fatal primary Epstein-Barr virus infection associated with low NK-cell counts in a patient receiving azathioprine: a case report and review of literature

por Honkila, Minna, Niinimäki, Riitta, Taskinen, Mervi, Kuismin, Outi, Kettunen, Kaisa, Saarela, Janna, Turunen, Sami, Renko, Marjo, Tapiainen, Terhi
Publicado 2019

Evaluating the role of CHEK2 p.(Asp438Tyr) allele in inherited breast cancer predisposition

por Kumpula, Timo A., Koivuluoma, Susanna, Soikkonen, Leila, Vorimo, Sandra, Moilanen, Jukka, Winqvist, Robert, Mantere, Tuomo, Kuismin, Outi, Pylkäs, Katri
Publicado 2023

Vitamin C boosts DNA demethylation in TET2 germline mutation carriers

por Taira, Aurora, Palin, Kimmo, Kuosmanen, Anna, Välimäki, Niko, Kuittinen, Outi, Kuismin, Outi, Kaasinen, Eevi, Rajamäki, Kristiina, Aaltonen, Lauri A.
Publicado 2023

Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 Variants

por Kraatari-Tiri, Minna, Haanpää, Maria K., Willberg, Tytti, Pohjola, Pia, Keski-Filppula, Riikka, Kuismin, Outi, Moilanen, Jukka S., Häkli, Sanna, Rahikkala, Elisa
Publicado 2022

Truncating TINF2 p.Tyr312Ter variant and inherited breast cancer susceptibility

por Koivuluoma, Susanna, Vorimo, Sandra, Mattila, Tiina M., Tervasmäki, Anna, Kumpula, Timo, Kuismin, Outi, Winqvist, Robert, Moilanen, Jukka, Mantere, Tuomo, Pylkäs, Katri
Publicado 2022

Tonsillar granuloma associated with hypogammaglobulinemia

por Laajala, Aleksi, Kuismin, Outi, Tastula, Mikko, Tiitto, Leena, Kauppila, Saila, Salo, Anna, Åström, Pirjo, Nissinen, Antti, Glumoff, Virpi, Seppänen, Mikko R. J., Hautala, Timo
Publicado 2020

Thymic neuroendocrine tumors in patients with multiple endocrine neoplasia type 1

por Yliaska, Iina, Tokola, Heikki, Ebeling, Tapani, Kuismin, Outi, Ukkola, Olavi, Koivikko, Minna L., Lesonen, Timo, Rimpiläinen, Jussi, Felin, Tuuli, Ryhänen, Eeva, Metso, Saara, Schalin-Jäntti, Camilla, Salmela, Pasi
Publicado 2022

Inflammation and Neutrophil Oxidative Burst in a Family with NFKB1 p.R157X LOF and Sterile Necrotizing Fasciitis

por Santaniemi, Wenny, Åström, Pirjo, Glumoff, Virpi, Pernaa, Nora, Tallgren, Ella-Noora, Palosaari, Sanna, Nissinen, Antti, Kaustio, Meri, Kuismin, Outi, Saarela, Janna, Nurmi, Katariina, Eklund, Kari K., Seppänen, Mikko R. J., Hautala, Timo
Publicado 2023

Whole-exome sequencing reveals candidate high-risk susceptibility genes for endometriosis

por Nousiainen, Susanna, Kuismin, Outi, Reinikka, Siiri, Manninen, Roosa, Khamaiseh, Sara, Kuivalainen, Mari, Terho, Anna, Koivurova, Sari, Niinimäki, Maarit, Salokas, Kari, Varjosalo, Markku, Ahtikoski, Anne, Bützow, Ralf, Lindgren, Outi, Uimari, Outi, Vahteristo, Pia
Publicado 2023

Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility

por Kumpula, Timo A., Vorimo, Sandra, Mattila, Taneli T., O’Gorman, Luke, Astuti, Galuh, Tervasmäki, Anna, Koivuluoma, Susanna, Mattila, Tiina M., Grip, Mervi, Winqvist, Robert, Kuismin, Outi, Moilanen, Jukka, Hoischen, Alexander, Gilissen, Christian, Mantere, Tuomo, Pylkäs, Katri
Publicado 2023

Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease

por Tallgren, Antti, Kager, Leo, O’Grady, Gina, Tuominen, Hannu, Körkkö, Jarmo, Kuismin, Outi, Feucht, Martha, Wilson, Callum, Behunova, Jana, England, Eleina, Kurki, Mitja I., Palotie, Aarno, Hallman, Mikko, Kaarteenaho, Riitta, Laccone, Franco, Boztug, Kaan, Hinttala, Reetta, Uusimaa, Johanna
Publicado 2023

Haploinsufficiency of A20 impairs protein–protein interactome and leads into caspase-8-dependent enhancement of NLRP3 inflammasome activation

por Rajamäki, Kristiina, Keskitalo, Salla, Seppänen, Mikko, Kuismin, Outi, Vähäsalo, Paula, Trotta, Luca, Väänänen, Antti, Glumoff, Virpi, Keskitalo, Paula, Kaarteenaho, Riitta, Jartti, Airi, Hautala, Nina, Jackson, Päivi, Nordström, Dan C, Saarela, Janna, Hautala, Timo, Eklund, Kari K, Varjosalo, Markku
Publicado 2018

Herpes simplex virus 2 encephalitis in a patient heterozygous for a TLR3 mutation

por Hautala, Timo, Chen, Jie, Tervonen, Laura, Partanen, Terhi, Winqvist, Satu, Lehtonen, Johanna, Saarela, Janna, Kraatari, Minna, Kuismin, Outi, Vuorinen, Tytti, Glumoff, Virpi, Åström, Pirjo, Huuskonen, Usko, Lorenzo, Lazaro, Casanova, Jean-Laurent, Zhang, Shen-Ying, Seppänen, Mikko R.J.
Publicado 2020

Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy

por Luppe, Johannes, Sticht, Heinrich, Lecoquierre, François, Goldenberg, Alice, Gorman, Kathleen M., Molloy, Ben, Agolini, Emanuele, Novelli, Antonio, Briuglia, Silvana, Kuismin, Outi, Marcelis, Carlo, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Julia, Sophie, Lemke, Johannes R., Abou Jamra, Rami, Platzer, Konrad
Publicado 2022

A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development

por Rahikkala, Elisa, Urpa, Lea, Ghimire, Bishwa, Topa, Hande, Kurki, Mitja I., Koskela, Maryna, Airavaara, Mikko, Hämäläinen, Eija, Pylkäs, Katri, Körkkö, Jarmo, Savolainen, Helena, Suoranta, Anu, Bertoli-Avella, Aida, Rolfs, Arndt, Mattila, Pirkko, Daly, Mark, Palotie, Aarno, Pietiläinen, Olli, Moilanen, Jukka, Kuismin, Outi
Publicado 2022

Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis

por Partanen, Terhi, Chen, Jie, Lehtonen, Johanna, Kuismin, Outi, Rusanen, Harri, Vapalahti, Olli, Vaheri, Antti, Anttila, Veli-Jukka, Bode, Michaela, Hautala, Nina, Vuorinen, Tytti, Glumoff, Virpi, Kraatari, Minna, Åström, Pirjo, Saarela, Janna, Kauma, Heikki, Lorenzo, Lazaro, Casanova, Jean-Laurent, Zhang, Shen-Ying, Seppänen, Mikko, Hautala, Timo
Publicado 2020