The Axon Guidance Receptor Gene ROBO1 Is a Candidate Gene for Developmental Dyslexia

por Hannula-Jouppi, Katariina, Kaminen-Ahola, Nina, Taipale, Mikko, Eklund, Ranja, Nopola-Hemmi, Jaana, Kääriäinen, Helena, Kere, Juha
Publicado 2005

Differentially methylated regions in maternal and paternal uniparental disomy for chromosome 7

por Hannula-Jouppi, Katariina, Muurinen, Mari, Lipsanen-Nyman, Marita, Reinius, Lovisa E, Ezer, Sini, Greco, Dario, Kere, Juha
Publicado 2014

Case report: A novel de novo IGF2 missense variant in a Finnish patient with Silver-Russell syndrome

por Loid, Petra, Lipsanen-Nyman, Marita, Ala-Mello, Sirpa, Hannula-Jouppi, Katariina, Kere, Juha, Mäkitie, Outi, Muurinen, Mari
Publicado 2022

Skin Microbiota and Clinical Associations in Netherton Syndrome

por Sillanpää, Veera, Soratto, Tatiany Aparecida Teixeira, Eränkö, Elina, Barrientos-Somarribas, Mauricio, Hannula-Jouppi, Katariina, Andersson, Björn, Ranki, Annamari
Publicado 2021

Immune cell phenotype and functional defects in Netherton syndrome

por Eränkö, Elina, Ilander, Mette, Tuomiranta, Mirja, Mäkitie, Antti, Lassila, Tea, Kreutzman, Anna, Klemetti, Paula, Mustjoki, Satu, Hannula-Jouppi, Katariina, Ranki, Annamari
Publicado 2018

DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma

por Heliö, Krista, Brandt, Eveliina, Vaara, Satu, Weckström, Sini, Harjama, Liisa, Kandolin, Riina, Järviö, Johanna, Hannula-Jouppi, Katariina, Heliö, Tiina, Holmström, Miia, Koskenvuo, Juha W.
Publicado 2023

Altered Methylation of IGF2 Locus 20 Years after Preterm Birth at Very Low Birth Weight

por Wehkalampi, Karoliina, Muurinen, Mari, Wirta, Sara Bruce, Hannula-Jouppi, Katariina, Hovi, Petteri, Järvenpää, Anna-Liisa, Eriksson, Johan G., Andersson, Sture, Kere, Juha, Kajantie, Eero
Publicado 2013

Genetic Susceptibility to Non-Necrotizing Erysipelas/Cellulitis

por Hannula-Jouppi, Katariina, Massinen, Satu, Siljander, Tuula, Mäkelä, Siru, Kivinen, Katja, Leinonen, Rasko, Jiao, Hong, Aitos, Päivi, Karppelin, Matti, Vuopio, Jaana, Syrjänen, Jaana, Kere, Juha
Publicado 2013

Hypomethylation of HOXA4 promoter is common in Silver-Russell syndrome and growth restriction and associates with stature in healthy children

por Muurinen, Mari, Hannula-Jouppi, Katariina, Reinius, Lovisa E., Söderhäll, Cilla, Merid, Simon Kebede, Bergström, Anna, Melén, Erik, Pershagen, Göran, Lipsanen-Nyman, Marita, Greco, Dario, Kere, Juha
Publicado 2017

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

Novel TMEM173 Mutation and the Role of Disease Modifying Alleles

por Keskitalo, Salla, Haapaniemi, Emma, Einarsdottir, Elisabet, Rajamäki, Kristiina, Heikkilä, Hannele, Ilander, Mette, Pöyhönen, Minna, Morgunova, Ekaterina, Hokynar, Kati, Lagström, Sonja, Kivirikko, Sirpa, Mustjoki, Satu, Eklund, Kari, Saarela, Janna, Kere, Juha, Seppänen, Mikko R. J., Ranki, Annamari, Hannula-Jouppi, Katariina, Varjosalo, Markku
Publicado 2019

Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients

por Hotz, Alrun, Kopp, Julia, Bourrat, Emmanuelle, Oji, Vinzenz, Komlosi, Katalin, Giehl, Kathrin, Bouadjar, Bakar, Bygum, Anette, Tantcheva-Poor, Iliana, Hellström Pigg, Maritta, Has, Cristina, Yang, Zhou, Irvine, Alan D., Betz, Regina C., Zambruno, Giovanna, Tadini, Gianluca, Süßmuth, Kira, Gruber, Robert, Schmuth, Matthias, Mazereeuw-Hautier, Juliette, Jonca, Natalie, Guez, Sophie, Brena, Michela, Hernandez-Martin, Angela, van den Akker, Peter, Bolling, Maria C., Hannula-Jouppi, Katariina, Zimmer, Andreas D., Alter, Svenja, Vahlquist, Anders, Fischer, Judith
Publicado 2021