Maternal smoking during pregnancy and risk of phacomatoses: results from a Swedish register-based study

por Tettamanti, Giorgio, Mogensen, Hanna, Nordgren, Ann, Feychting, Maria
Publicado 2019

Germinal and Somatic Trisomy 21 Mosaicism: How Common is it, What are the Implications for Individual Carriers and How Does it Come About?

por Hultén, Maj A., Jonasson, Jon, Nordgren, Ann, Iwarsson, Erik
Publicado 2010

Reversed gender ratio of autism spectrum disorder in Smith-Magenis syndrome

por Nag, Heidi Elisabeth, Nordgren, Ann, Anderlid, Britt-Marie, Nærland, Terje
Publicado 2018

Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta

por Andersson, Kristofer, Malmgren, Barbro, Åström, Eva, Nordgren, Ann, Taylan, Fulya, Dahllöf, Göran
Publicado 2020

Case Report: Inversion of LMX1B - A Novel Cause of Nail-Patella Syndrome in a Swedish Family and a Longtime Follow-Up

por Lindelöf, Hillevi, Horemuzova, Eva, Voss, Ulrika, Nordgren, Ann, Grigelioniene, Giedre, Hammarsjö, Anna
Publicado 2022

Neurocutaneous Syndromes, Perinatal Factors, and the Risk of Childhood Cancer in Sweden

por Kampitsi, Christina-Evmorfia, Nordgren, Ann, Mogensen, Hanna, Pontén, Emeli, Feychting, Maria, Tettamanti, Giorgio
Publicado 2023

Biallelic mutations in WRAP53 result in dysfunctional telomeres, Cajal bodies and DNA repair, thereby causing Hoyeraal–Hreidarsson syndrome

por Bergstrand, Sofie, Böhm, Stefanie, Malmgren, Helena, Norberg, Anna, Sundin, Mikael, Nordgren, Ann, Farnebo, Marianne
Publicado 2020

Expanding the ataxia with oculomotor apraxia type 4 phenotype

por Paucar, Martin, Malmgren, Helena, Taylor, Malcolm, Reynolds, John J., Svenningsson, Per, Press, Rayomand, Nordgren, Ann
Publicado 2016

Minor physical anomalies in neurodevelopmental disorders: a twin study

por Myers, Lynnea, Anderlid, Britt-Marie, Nordgren, Ann, Willfors, Charlotte, Kuja-Halkola, Ralf, Tammimies, Kristiina, Bölte, Sven
Publicado 2017

A somatic UBA2 variant preceded ETV6-RUNX1 in the concordant BCP-ALL of monozygotic twins

por Bang, Benedicte, Eisfeldt, Jesper, Barbany, Gisela, Harila-Saari, Arja, Heyman, Mats, Zachariadis, Vasilios, Taylan, Fulya, Nordgren, Ann
Publicado 2022

The cost-effectiveness of whole genome sequencing in neurodevelopmental disorders

por Runheim, Hannes, Pettersson, Maria, Hammarsjö, Anna, Nordgren, Ann, Henriksson, Martin, Lindstrand, Anna, Levin, Lars-Åke, Soller, Maria Johansson
Publicado 2023

International Undiagnosed Diseases Programs (UDPs): components and outcomes

por Curic, Ela, Ewans, Lisa, Pysar, Ryan, Taylan, Fulya, Botto, Lorenzo D., Nordgren, Ann, Gahl, William, Palmer, Elizabeth Emma
Publicado 2023

CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome

por Wincent, Josephine, Luthman, Aron, van Belzen, Martine, van der Lans, Christian, Albert, Johanna, Nordgren, Ann, Anderlid, Britt‐Marie
Publicado 2015

Erratum

por Wincent, Josephine, Luthman, Aron, van Belzen, Martine, van der Lans, Christian, Albert, Johanna, Nordgren, Ann, Anderlid, Britt‐Marie
Publicado 2016

Pathogenic copy number variants are detected in a subset of patients with gastrointestinal malformations

por Winberg, Johanna, Gustavsson, Peter, Sahlin, Ellika, Larsson, Magnus, Ehrén, Henrik, Fossum, Magdalena, Wester, Tomas, Nordgren, Ann, Nordenskjöld, Agneta
Publicado 2019

Heterozygous variants in DCC: Beyond congenital mirror movements

por Thams, Sebastian, Islam, Mominul, Lindefeldt, Marie, Nordgren, Ann, Granberg, Tobias, Tesi, Bianca, Barbany, Gisela, Nilsson, Daniel, Paucar, Martin
Publicado 2020

Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature

por Frisk, Sofia, Grandpeix‐Guyodo, Catherine, Popovic Silwerfeldt, Karin, Hjartarson, Helgi Thor, Chatzianastassiou, Dimitris, Magnusson, Irina, Laurell, Tobias, Nordgren, Ann
Publicado 2018

Williams syndrome: on the role of intellectual abilities in anxiety

por Willfors, Charlotte, Riby, Deborah M., van der Poll, Marcus, Ekholm, Katja, Avdic Björlin, Hanna, Kleberg, Johan Lundin, Nordgren, Ann
Publicado 2021

Social feedback enhances learning in Williams syndrome

por Kleberg, Johan Lundin, Willfors, Charlotte, Björlin Avdic, Hanna, Riby, Deborah, Galazka, Martyna A., Guath, Mona, Nordgren, Ann, Strannegård, Claes
Publicado 2023

No transfer of arousal from other’s eyes in Williams syndrome

por Kleberg, Johan Lundin, Hallman, Astrid E. Z., Galazka, Martyna A., Riby, Deborah M., Bölte, Sven, Willfors, Charlotte, Fawcett, Christine, Nordgren, Ann
Publicado 2023