High divergence in primate-specific duplicated regions: Human and chimpanzee Chorionic Gonadotropin Beta genes

por Hallast, Pille, Saarela, Janna, Palotie, Aarno, Laan, Maris
Publicado 2008

Genetic Association and Altered Gene Expression of CYBB in Multiple Sclerosis Patients

por Cardamone, Giulia, Paraboschi, Elvezia Maria, Soldà, Giulia, Duga, Stefano, Saarela, Janna, Asselta, Rosanna
Publicado 2018

Relevance of Coding Variation in FLG And DOCK8 in Finnish Pediatric Patients with Early-Onset Moderate-To-Severe Atopic Dermatitis

por Perälä, Miia, Kaustio, Meri, Salava, Alexander, Jakkula, Eveliina, Pelkonen, Anna S., Saarela, Janna, Remitz, Anita, Mäkelä, Mika J.
Publicado 2023

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

Finding disease candidate genes by liquid association

por Li, Ker-Chau, Palotie, Aarno, Yuan, Shinsheng, Bronnikov, Denis, Chen, Daniel, Wei, Xuelian, Choi, Oi-Wa, Saarela, Janna, Peltonen, Leena
Publicado 2007

Allelic variants of IL1R1 gene associate with severe hand osteoarthritis

por Näkki, Annu, Kouhia, Sanna T, Saarela, Janna, Harilainen, Arsi, Tallroth, Kaj, Videman, Tapio, Battié, Michele C, Kaprio, Jaakko, Peltonen, Leena, Kujala, Urho M
Publicado 2010

Enrichment of rare variants in population isolates: single AICDA mutation responsible for hyper-IgM syndrome type 2 in Finland

por Trotta, Luca, Hautala, Timo, Hämäläinen, Sari, Syrjänen, Jaana, Viskari, Hanna, Almusa, Henrikki, Lepisto, Maija, Kaustio, Meri, Porkka, Kimmo, Palotie, Aarno, Seppänen, Mikko, Saarela, Janna
Publicado 2016

Erratum to: high-resolution SNP array analysis of patients with developmental disorder and normal array CGH result

por Siggberg, Linda, Ala-Mello, Sirpa, Linnankivi, Tarja, Avela, Kristiina, Scheinin, Ilari, Kristiansson, Kati, Lahermo, Päivi, Hietala, Marja, Metsähonkala, Liisa, Kuusinen, Esa, Laaksonen, Maarit, Saarela, Janna, Knuutila, Sakari
Publicado 2014

Risk Alleles of USF1 Gene Predict Cardiovascular Disease of Women in Two Prospective Studies

por Komulainen, Kati, Alanne, Mervi, Auro, Kirsi, Kilpikari, Riika, Pajukanta, Päivi, Saarela, Janna, Ellonen, Pekka, Salminen, Kaisa, Kulathinal, Sangita, Kuulasmaa, Kari, Silander, Kaisa, Salomaa, Veikko, Perola, Markus, Peltonen, Leena
Publicado 2006

Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders

por Trotta, Luca, Norberg, Anna, Taskinen, Mervi, Béziat, Vivien, Degerman, Sofie, Wartiovaara-Kautto, Ulla, Välimaa, Hannamari, Jahnukainen, Kirsi, Casanova, Jean-Laurent, Seppänen, Mikko, Saarela, Janna, Koskenvuo, Minna, Martelius, Timi
Publicado 2018

Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma*

por HARJAMA, Liisa, KETTUNEN, Kaisa, ELOMAA, Outi, EINARSDOTTIR, Elisabet, HEIKKILÄ, Hannele, KIVIRIKKO, Sirpa, LAPPALAINEN, Katriina, SAARELA, Janna, ALBY, Caroline, RANKI, Annamari, KERE, Juha, HADJ-RABIA, Smail, HANNULA-JOUPPI, Katariina
Publicado 2020

Comparison of solution-based exome capture methods for next generation sequencing

por Sulonen, Anna-Maija, Ellonen, Pekka, Almusa, Henrikki, Lepistö, Maija, Eldfors, Samuli, Hannula, Sari, Miettinen, Timo, Tyynismaa, Henna, Salo, Perttu, Heckman, Caroline, Joensuu, Heikki, Raivio, Taneli, Suomalainen, Anu, Saarela, Janna
Publicado 2011

Unexpectedly High Prevalence of Common Variable Immunodeficiency in Finland

por Selenius, Jannica S., Martelius, Timi, Pikkarainen, Sampsa, Siitonen, Sanna, Mattila, Eero, Pietikäinen, Risto, Suomalainen, Pekka, Aalto, Arja H., Saarela, Janna, Einarsdottir, Elisabet, Järvinen, Asko, Färkkilä, Martti, Kere, Juha, Seppänen, Mikko
Publicado 2017

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

Gender Differences in Genetic Risk Profiles for Cardiovascular Disease

por Silander, Kaisa, Alanne, Mervi, Kristiansson, Kati, Saarela, Olli, Ripatti, Samuli, Auro, Kirsi, Karvanen, Juha, Kulathinal, Sangita, Niemelä, Matti, Ellonen, Pekka, Vartiainen, Erkki, Jousilahti, Pekka, Saarela, Janna, Kuulasmaa, Kari, Evans, Alun, Perola, Markus, Salomaa, Veikko, Peltonen, Leena
Publicado 2008

An Immune Response Network Associated with Blood Lipid Levels

por Inouye, Michael, Silander, Kaisa, Hamalainen, Eija, Salomaa, Veikko, Harald, Kennet, Jousilahti, Pekka, Männistö, Satu, Eriksson, Johan G., Saarela, Janna, Ripatti, Samuli, Perola, Markus, van Ommen, Gert-Jan B., Taskinen, Marja-Riitta, Palotie, Aarno, Dermitzakis, Emmanouil T., Peltonen, Leena
Publicado 2010

Somatic mutations and T-cell clonality in patients with immunodeficiency

por Savola, Paula, Martelius, Timi, Kankainen, Matti, Huuhtanen, Jani, Lundgren, Sofie, Koski, Yrjö, Eldfors, Samuli, Kelkka, Tiina, Keränen, Mikko A.I., Ellonen, Pekka, Kovanen, Panu E., Kytölä, Soili, Saarela, Janna, Lähdesmäki, Harri, Seppänen, Mikko R.J., Mustjoki, Satu
Publicado 2019

PRKCA and Multiple Sclerosis: Association in Two Independent Populations

por Saarela, Janna, Kallio, Suvi P, Chen, Daniel, Montpetit, Alexandre, Jokiaho, Anne, Choi, Eva, Asselta, Rosanna, Bronnikov, Denis, Lincoln, Matthew R, Sadovnick, A. Dessa, Tienari, Pentti J, Koivisto, Keijo, Palotie, Aarno, Ebers, George C, Hudson, Thomas J, Peltonen, Leena
Publicado 2006

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