Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26

por Gudmundsson, Sanna, Wilbe, Maria, Ekvall, Sara, Ameur, Adam, Cahill, Nicola, Alexandrov, Ludmil B., Virtanen, Marie, Hellström Pigg, Maritta, Vahlquist, Anders, Törmä, Hans, Bondeson, Marie-Louise
Publicado 2017

A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population

por Lagerstedt-Robinson, Kristina, Baranowska Körberg, Izabella, Tsiaprazis, Stefanos, Björck, Erik, Tham, Emma, Poluha, Anna, Hellström Pigg, Maritta, Paulsson-Karlsson, Ylva, Nordenskjöld, Magnus, Johansson-Soller, Maria, Aravidis, Christos
Publicado 2022

Mutational Spectrum of the ABCA12 Gene and Genotype–Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis

por Hotz, Alrun, Kopp, Julia, Bourrat, Emmanuelle, Oji, Vinzenz, Süßmuth, Kira, Komlosi, Katalin, Bouadjar, Bakar, Tantcheva-Poór, Iliana, Hellström Pigg, Maritta, Betz, Regina C., Giehl, Kathrin, Schedel, Fiona, Weibel, Lisa, Schulz, Solveig, Stölzl, Dora V., Tadini, Gianluca, Demiral, Emine, Berggard, Karin, Zimmer, Andreas D., Alter, Svenja, Fischer, Judith
Publicado 2023

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

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

por Stranneheim, Henrik, Lagerstedt-Robinson, Kristina, Magnusson, Måns, Kvarnung, Malin, Nilsson, Daniel, Lesko, Nicole, Engvall, Martin, Anderlid, Britt-Marie, Arnell, Henrik, Johansson, Carolina Backman, Barbaro, Michela, Björck, Erik, Bruhn, Helene, Eisfeldt, Jesper, Freyer, Christoph, Grigelioniene, Giedre, Gustavsson, Peter, Hammarsjö, Anna, Hellström-Pigg, Maritta, Iwarsson, Erik, Jemt, Anders, Laaksonen, Mikael, Enoksson, Sara Lind, Malmgren, Helena, Naess, Karin, Nordenskjöld, Magnus, Oscarson, Mikael, Pettersson, Maria, Rasi, Chiara, Rosenbaum, Adam, Sahlin, Ellika, Sardh, Eliane, Stödberg, Tommy, Tesi, Bianca, Tham, Emma, Thonberg, Håkan, Töhönen, Virpi, von Döbeln, Ulrika, Vassiliou, Daphne, Vonlanthen, Sofie, Wikström, Ann-Charlotte, Wincent, Josephine, Winqvist, Ola, Wredenberg, Anna, Ygberg, Sofia, Zetterström, Rolf H., Marits, Per, Soller, Maria Johansson, Nordgren, Ann, Wirta, Valtteri, Lindstrand, Anna, Wedell, Anna
Publicado 2021