Positive Attitudes towards Non-Invasive Prenatal Testing (NIPT) in a Swedish Cohort of 1,003 Pregnant Women

por Sahlin, Ellika, Nordenskjöld, Magnus, Gustavsson, Peter, Wincent, Josephine, Georgsson, Susanne, Iwarsson, Erik
Publicado 2016

Knowledge and Attitudes Regarding Non-Invasive Prenatal Testing (NIPT) and Preferences for Risk Information among High School Students in Sweden

por Georgsson, Susanne, Sahlin, Ellika, Iwarsson, Moa, Nordenskjöld, Magnus, Gustavsson, Peter, Iwarsson, Erik
Publicado 2016

Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19

por Paucar, Martin, Bergendal, Åsa, Gustavsson, Peter, Nordenskjöld, Magnus, Laffita-Mesa, José, Savitcheva, Irina, Svenningsson, Per
Publicado 2018

Filaggrin Genotype Determines Functional and Molecular Alterations in Skin of Patients with Atopic Dermatitis and Ichthyosis Vulgaris

por Winge, Mårten C. G., Hoppe, Torborg, Berne, Berit, Vahlquist, Anders, Nordenskjöld, Magnus, Bradley, Maria, Törmä, Hans
Publicado 2011

Haploinsufficiency of UNC13D increases the risk of lymphoma

por Löfstedt, Alexandra, Ahlm, Clas, Tesi, Bianca, Bergdahl, Ingvar A., Nordenskjöld, Magnus, Bryceson, Yenan T., Henter, Jan‐Inge, Meeths, Marie
Publicado 2019

Cell-free tumour DNA analysis detects copy number alterations in gastro-oesophageal cancer patients

por Wallander, Karin, Eisfeldt, Jesper, Lindblad, Mats, Nilsson, Daniel, Billiau, Kenny, Foroughi, Hassan, Nordenskjöld, Magnus, Liedén, Agne, Tham, Emma
Publicado 2021

Patient-Specific Assays Based on Whole-Genome Sequencing Data to Measure Residual Disease in Children With Acute Lymphoblastic Leukemia: A Proof of Concept Study

por Arthur, Cecilia, Rezayee, Fatemah, Mogensen, Nina, Saft, Leonie, Rosenquist, Richard, Nordenskjöld, Magnus, Harila-Saari, Arja, Tham, Emma, Barbany, Gisela
Publicado 2022

Global Expression Profiling in Atopic Eczema Reveals Reciprocal Expression of Inflammatory and Lipid Genes

por Sääf, Annika M., Tengvall-Linder, Maria, Chang, Howard Y., Adler, Adam S., Wahlgren, Carl-Fredrik, Scheynius, Annika, Nordenskjöld, Magnus, Bradley, Maria
Publicado 2008

Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth

por Sahlin, Ellika, Gréen, Anna, Gustavsson, Peter, Liedén, Agne, Nordenskjöld, Magnus, Papadogiannakis, Nikos, Pettersson, Karin, Nilsson, Daniel, Jonasson, Jon, Iwarsson, Erik
Publicado 2019

Severe congenital neutropenia‐associated JAGN1 mutations unleash a calpain‐dependent cell death programme in myeloid cells

por Khandagale, Avinash, Holmlund, Teresa, Entesarian, Miriam, Nilsson, Daniel, Kalwak, Krzysztof, Klaudel‐Dreszler, Maja, Carlsson, Göran, Henter, Jan‐Inge, Nordenskjöld, Magnus, Fadeel, Bengt
Publicado 2020

Simultaneous Ultra-Sensitive Detection of Structural and Single Nucleotide Variants Using Multiplex Droplet Digital PCR in Liquid Biopsies from Children with Medulloblastoma

por Arthur, Cecilia, Jylhä, Cecilia, de Ståhl, Teresita Díaz, Shamikh, Alia, Sandgren, Johanna, Rosenquist, Richard, Nordenskjöld, Magnus, Harila, Arja, Barbany, Gisela, Sandvik, Ulrika, Tham, Emma
Publicado 2023

High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing

por Tran, Anh Nhi, Taylan, Fulya, Zachariadis, Vasilios, Ivanov Öfverholm, Ingegerd, Lindstrand, Anna, Vezzi, Francesco, Lötstedt, Britta, Nordenskjöld, Magnus, Nordgren, Ann, Nilsson, Daniel, Barbany, Gisela
Publicado 2018

An N-Terminal Missense Mutation in STX11 Causative of FHL4 Abrogates Syntaxin-11 Binding to Munc18-2

por Müller, Martha-Lena, Chiang, Samuel C. C., Meeths, Marie, Tesi, Bianca, Entesarian, Miriam, Nilsson, Daniel, Wood, Stephanie M., Nordenskjöld, Magnus, Henter, Jan-Inge, Naqvi, Ahmed, Bryceson, Yenan T.
Publicado 2014

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

Sensitive Detection of Cell-Free Tumour DNA Using Optimised Targeted Sequencing Can Predict Prognosis in Gastro-Oesophageal Cancer

por Wallander, Karin, Haider, Zahra, Jeggari, Ashwini, Foroughi-Asl, Hassan, Gellerbring, Anna, Lyander, Anna, Chozhan, Athithyan, Cuba Gyllensten, Ollanta, Hägglund, Moa, Wirta, Valtteri, Nordenskjöld, Magnus, Lindblad, Mats, Tham, Emma
Publicado 2023

Genetic Variation in the Epidermal Transglutaminase Genes Is Not Associated with Atopic Dermatitis

por Liedén, Agne, Winge, Mårten C. G., Sääf, Annika, Kockum, Ingrid, Ekelund, Elisabeth, Rodriguez, Elke, Fölster-Holst, Regina, Franke, Andre, Illig, Thomas, Tengvall-Linder, Maria, Baurecht, Hansjörg, Weidinger, Stephan, Wahlgren, Carl-Fredrik, Nordenskjöld, Magnus, Bradley, Maria
Publicado 2012

Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186

por Kvarnung, Malin, Shahsavani, Mansoureh, Taylan, Fulya, Moslem, Mohsen, Breeuwsma, Nicole, Laan, Loora, Schuster, Jens, Jin, Zhe, Nilsson, Daniel, Lieden, Agne, Anderlid, Britt-Marie, Nordenskjöld, Magnus, Syk Lundberg, Elisabeth, Birnir, Bryndis, Dahl, Niklas, Nordgren, Ann, Lindstrand, Anna, Falk, Anna
Publicado 2019

Maternal Filaggrin Mutations Increase the Risk of Atopic Dermatitis in Children: An Effect Independent of Mutation Inheritance

por Esparza-Gordillo, Jorge, Matanovic, Anja, Marenholz, Ingo, Bauerfeind, Anja, Rohde, Klaus, Nemat, Katja, Lee-Kirsch, Min-Ae, Nordenskjöld, Magnus, Winge, Marten C. G., Keil, Thomas, Krüger, Renate, Lau, Susanne, Beyer, Kirsten, Kalb, Birgit, Niggemann, Bodo, Hübner, Norbert, Cordell, Heather J., Bradley, Maria, Lee, Young-Ae
Publicado 2015

Gain-of-function mutation of microRNA-140 in human skeletal dysplasia

por Grigelioniene, Giedre, Suzuki, Hiroshi I., Taylan, Fulya, Mirzamohammadi, Fatemeh, Borochowitz, Zvi U., Ayturk, Ugur M., Tzur, Shay, Horemuzova, Eva, Lindstrand, Anna, Weis, Mary Ann, Grigelionis, Gintautas, Hammarsjö, Anna, Marsk, Elin, Nordgren, Ann, Nordenskjöld, Magnus, Eyre, David R., Warman, Matthew L., Nishimura, Gen, Sharp, Phillip A., Kobayashi, Tatsuya
Publicado 2019

Birt-Hogg-Dubé renal tumors are genetically distinct from other renal neoplasias and are associated with up-regulation of mitochondrial gene expression

por Klomp, Jeff A, Petillo, David, Niemi, Natalie M, Dykema, Karl J, Chen, Jindong, Yang, Ximing J, Sääf, Annika, Zickert, Peter, Aly, Markus, Bergerheim, Ulf, Nordenskjöld, Magnus, Gad, Sophie, Giraud, Sophie, Denoux, Yves, Yonneau, Laurent, Méjean, Arnaud, Vasiliu, Viorel, Richard, Stéphane, MacKeigan, Jeffrey P, Teh, Bin T, Furge, Kyle A
Publicado 2010