Mutations of complement lectin pathway genes MBL2 and MASP2 associated with placental malaria

por Holmberg, Ville, Onkamo, Päivi, Lahtela, Elisa, Lahermo, Päivi, Bedu-Addo, George, Mockenhaupt, Frank P, Meri, Seppo
Publicado 2012

Population substructure in Finland and Sweden revealed by the use of spatial coordinates and a small number of unlinked autosomal SNPs

por Hannelius, Ulf, Salmela, Elina, Lappalainen, Tuuli, Guillot, Gilles, Lindgren, Cecilia M, von Döbeln, Ulrika, Lahermo, Päivi, Kere, Juha
Publicado 2008

Genetic background of ataxia in children younger than 5 years in Finland

por Ignatius, Erika, Isohanni, Pirjo, Pohjanpelto, Max, Lahermo, Päivi, Ojanen, Simo, Brilhante, Virginia, Palin, Eino, Suomalainen, Anu, Lönnqvist, Tuula, Carroll, Christopher J.
Publicado 2020

Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes

por Luukkonen, Tiia Maria, Mehrjouy, Mana M., Pöyhönen, Minna, Anttonen, Anna‐Kaisa, Lahermo, Päivi, Ellonen, Pekka, Paulin, Lars, Tommerup, Niels, Palotie, Aarno, Varilo, Teppo
Publicado 2017

Swedish Population Substructure Revealed by Genome-Wide Single Nucleotide Polymorphism Data

por Salmela, Elina, Lappalainen, Tuuli, Liu, Jianjun, Sistonen, Pertti, Andersen, Peter M., Schreiber, Stefan, Savontaus, Marja-Liisa, Czene, Kamila, Lahermo, Päivi, Hall, Per, Kere, Juha
Publicado 2011

Genome-Wide Analysis of Single Nucleotide Polymorphisms Uncovers Population Structure in Northern Europe

por Salmela, Elina, Lappalainen, Tuuli, Fransson, Ingegerd, Andersen, Peter M., Dahlman-Wright, Karin, Fiebig, Andreas, Sistonen, Pertti, Savontaus, Marja-Liisa, Schreiber, Stefan, Kere, Juha, Lahermo, Päivi
Publicado 2008

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

Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene

por Hackman, Peter, Rusanen, Salla M., Johari, Mridul, Vihola, Anna, Jonson, Per Harald, Sarparanta, Jaakko, Donner, Kati, Lahermo, Päivi, Koivunen, Sampo, Luque, Helena, Soininen, Merja, Mahjneh, Ibrahim, Auranen, Mari, Arumilli, Meharji, Savarese, Marco, Udd, Bjarne
Publicado 2021

Identification of DHX40 as a candidate susceptibility gene for colorectal and hematological neoplasia

por Olkinuora, Alisa, Nieminen, Taina T., Douglas, Suvi, Kauppinen, Anni, Kontro, Mika, Väänänen, Juho, Kankainen, Matti, Ristimäki, Ari, Mäkinen, Markus, Lahermo, Päivi, Heckman, Caroline, Saarela, Janna, Salonen, Milla, Lepistö, Anna, Järvinen, Heikki, Mecklin, Jukka-Pekka, Kilpivaara, Outi, Wartiovaara-Kautto, Ulla, Porkka, Kimmo, Peltomäki, Päivi
Publicado 2023

Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions

por Johari, Mridul, Sarparanta, Jaakko, Vihola, Anna, Jonson, Per Harald, Savarese, Marco, Jokela, Manu, Torella, Annalaura, Piluso, Giulio, Said, Edith, Vella, Norbert, Cauchi, Marija, Magot, Armelle, Magri, Francesca, Mauri, Eleonora, Kornblum, Cornelia, Reimann, Jens, Stojkovic, Tanya, Romero, Norma B., Luque, Helena, Huovinen, Sanna, Lahermo, Päivi, Donner, Kati, Comi, Giacomo Pietro, Nigro, Vincenzo, Hackman, Peter, Udd, Bjarne
Publicado 2021

European lactase persistence genotype shows evidence of association with increase in body mass index

por Kettunen, Johannes, Silander, Kaisa, Saarela, Olli, Amin, Najaf, Müller, Martina, Timpson, Nicholas, Surakka, Ida, Ripatti, Samuli, Laitinen, Jaana, Hartikainen, Anna-Liisa, Pouta, Anneli, Lahermo, Päivi, Anttila, Verneri, Männistö, Satu, Jula, Antti, Virtamo, Jarmo, Salomaa, Veikko, Lehtimäki, Terho, Raitakari, Olli, Gieger, Christian, Wichmann, Erich H., Van Duijn, Cornelia M., Smith, George Davey, McCarthy, Mark I., Järvelin, Marjo-Riitta, Perola, Markus, Peltonen, Leena
Publicado 2010

Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis

por Tommiska, Johanna, Känsäkoski, Johanna, Skibsbye, Lasse, Vaaralahti, Kirsi, Liu, Xiaonan, Lodge, Emily J., Tang, Chuyi, Yuan, Lei, Fagerholm, Rainer, Kanters, Jørgen K., Lahermo, Päivi, Kaunisto, Mari, Keski-Filppula, Riikka, Vuoristo, Sanna, Pulli, Kristiina, Ebeling, Tapani, Valanne, Leena, Sankila, Eeva-Marja, Kivirikko, Sirpa, Lääperi, Mitja, Casoni, Filippo, Giacobini, Paolo, Phan-Hug, Franziska, Buki, Tal, Tena-Sempere, Manuel, Pitteloud, Nelly, Veijola, Riitta, Lipsanen-Nyman, Marita, Kaunisto, Kari, Mollard, Patrice, Andoniadou, Cynthia L., Hirsch, Joel A., Varjosalo, Markku, Jespersen, Thomas, Raivio, Taneli
Publicado 2017

New Susceptibility Loci Associated with Kidney Disease in Type 1 Diabetes

por Sandholm, Niina, Salem, Rany M., McKnight, Amy Jayne, Brennan, Eoin P., Forsblom, Carol, Isakova, Tamara, McKay, Gareth J., Williams, Winfred W., Sadlier, Denise M., Mäkinen, Ville-Petteri, Swan, Elizabeth J., Palmer, Cameron, Boright, Andrew P., Ahlqvist, Emma, Deshmukh, Harshal A., Keller, Benjamin J., Huang, Huateng, Ahola, Aila J., Fagerholm, Emma, Gordin, Daniel, Harjutsalo, Valma, He, Bing, Heikkilä, Outi, Hietala, Kustaa, Kytö, Janne, Lahermo, Päivi, Lehto, Markku, Lithovius, Raija, Österholm, Anne-May, Parkkonen, Maija, Pitkäniemi, Janne, Rosengård-Bärlund, Milla, Saraheimo, Markku, Sarti, Cinzia, Söderlund, Jenny, Soro-Paavonen, Aino, Syreeni, Anna, Thorn, Lena M., Tikkanen, Heikki, Tolonen, Nina, Tryggvason, Karl, Tuomilehto, Jaakko, Wadén, Johan, Gill, Geoffrey V., Prior, Sarah, Guiducci, Candace, Mirel, Daniel B., Taylor, Andrew, Hosseini, S. Mohsen, Parving, Hans-Henrik, Rossing, Peter, Tarnow, Lise, Ladenvall, Claes, Alhenc-Gelas, François, Lefebvre, Pierre, Rigalleau, Vincent, Roussel, Ronan, Tregouet, David-Alexandre, Maestroni, Anna, Maestroni, Silvia, Falhammar, Henrik, Gu, Tianwei, Möllsten, Anna, Cimponeriu, Danut, Ioana, Mihai, Mota, Maria, Mota, Eugen, Serafinceanu, Cristian, Stavarachi, Monica, Hanson, Robert L., Nelson, Robert G., Kretzler, Matthias, Colhoun, Helen M., Panduru, Nicolae Mircea, Gu, Harvest F., Brismar, Kerstin, Zerbini, Gianpaolo, Hadjadj, Samy, Marre, Michel, Groop, Leif, Lajer, Maria, Bull, Shelley B., Waggott, Daryl, Paterson, Andrew D., Savage, David A., Bain, Stephen C., Martin, Finian, Hirschhorn, Joel N., Godson, Catherine, Florez, Jose C., Groop, Per-Henrik, Maxwell, Alexander P.
Publicado 2012