Publications in DiVA – Marie-Louise Bondeson

  • Baranowska Körberg, Izabella; Nowinski, Daniel; Bondeson, Marie-Louise; Melin, Malin et al.

    A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report

    Part of BMC Medical Genetics, 2020.

    DOI Uploaded full-text To DiVA

    Open access

  • Höijer, Ida; Johansson, Josefin; Gudmundsson, Sanna; Chin, Chen-Shan et al.

    Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity

    Part of Genome Biology, 2020.

    DOI Uploaded full-text To DiVA

    Open access

  • Gudmundsson, Sanna; Annerén, Göran; Marcos-Alcalde, Íñigo; Wilbe, Maria et al.

    A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4: Review of the literature

    Part of European Journal of Medical Genetics, 2019.

    DOI To DiVA

  • Gudmundsson, Sanna; Wilbe, Maria; Gorniok, Beata Filipek; Molin, Anna-Maja et al.

    TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish

    Part of Scientific Reports, 2019.

    DOI Uploaded full-text To DiVA

    Open access

  • Stattin, Eva-Lena; Johansson, Josefin; Gudmundsson, Sanna; Ameur, Adam et al.

    A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin crease

    Part of American Journal of Medical Genetics. Part A, p. 1405-1410, 2018.

    DOI To DiVA

  • Höijer, Ida; Tsai, Yu-Chih; Clark, Tyson A.; Kotturi, Paul et al.

    Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing

    Part of Human Mutation, p. 1262-1272, 2018.

    DOI Uploaded full-text To DiVA

    Open access

  • Höijer, Ida; Tsai, Yu-Chih; Clark, Tyson A.; Kotturi, Paul et al.

    Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing

    Part of Human Mutation, p. 1262-1272, 2018.

    To DiVA

  • Bondeson, Marie-Louise; Ericson, Katharina; Gudmundsson, Sanna; Ameur, Adam et al.

    A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.

    Part of Clinical Genetics, p. 510-516, 2017.

    DOI To DiVA

  • Wilbe, Maria; Gudmundsson, Sanna; Johansson, Josefin; Ameur, Adam et al.

    A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders

    Part of Prenatal Diagnosis, p. 1146-1154, 2017.

    DOI Uploaded full-text To DiVA

    Open access

  • Olsson, K. Sigvard; Wålinder, Olof; Jansson, Ulf; Wilbe, Maria et al.

    Common founder effects of hereditary hemochromatosis, Wilson's disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 genes

    Part of Hereditas, 2017.

    DOI Uploaded full-text To DiVA

    Open access

  • Gudmundsson, Sanna; Wilbe, Maria; Ekvall, Sara; Ameur, Adam et al.

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

    Part of Human Molecular Genetics, p. 1070-1077, 2017.

    DOI Uploaded full-text To DiVA

    Open access

  • Hu, H.; Haas, S. A.; Chelly, J.; Van Esch, H. et al.

    X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

    Part of Molecular Psychiatry, p. 133-148, 2016.

    DOI To DiVA

  • Wilbe, Maria; Ekvall, Sara; Eurenius, Karin; Ericson, Katharina et al.

    MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).

    Part of Journal of Medical Genetics, p. 195-202, 2015.

    DOI To DiVA

  • Ekvall, Sara; Wilbe, Maria; Dahlgren, Jovanna; Legius, Eric et al.

    Mutation in NRAS in familial Noonan syndrome: case report and review of the literature

    Part of BMC Medical Genetics, 2015.

    DOI To DiVA

    Open access

  • Flex, Elisabetta; Jaiswal, Mamta; Pantaleoni, Francesca; Martinelli, Simone et al.

    Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

    Part of Human Molecular Genetics, p. 4315-4327, 2014.

    DOI To DiVA

  • Holmström, Gerd; Marie-Louise, Bondeson; Eriksson, Urban; Åkerblom, Hanna et al.

    'Congenital' nystagmus may hide various ophthalmic diagnoses

    Part of Acta Ophthalmologica, p. 412-416, 2014.

    DOI To DiVA

  • Ekvall, Sara; Sjörs, Kerstin; Jonzon, Anders; Vihinen, Mauno et al.

    Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome

    Part of American Journal of Medical Genetics. Part A, p. 579-587, 2014.

    DOI To DiVA

  • Molin, Anna-Maja; Andrieux, J.; Koolen, D. A.; Malan, V. et al.

    A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

    Part of Journal of Medical Genetics, p. 104-109, 2012.

    DOI To DiVA

  • Wittström, Elisabeth; Ponjavic, Vesna; Bondeson, Marie-Louise; Andreasson, Sten

    Anterior segment abnormalities and angle-closure glaucoma in a family with a mutation in the BEST1 gene and Best vitelliform macular dystrophy

    Part of Ophthalmic Genetics, p. 217-227, 2011.

    DOI To DiVA

  • Nyström, Anna-Maja; Ekvall, Sara; Thuresson, Ann-Charlotte; Kamali-Moghaddam, Masood et al.

    Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis

    Part of European Journal of Medical Genetics, p. 117-121, 2010.

    DOI To DiVA

  • Nyström, Anna-Maja; Ekvall, Sara; Strömberg, Bo; Holmström, Gerd et al.

    A severe form of Noonan syndrome and autosomal dominant café-au-lait spots: evidence for different genetic origins

    Part of Acta Paediatrica, p. 693-698, 2009.

    DOI To DiVA

  • Konings, A.; Van Laer, L.; Wiktorek-Smagur, A.; Rajkowska, E. et al.

    Candidate gene association study for noise-induced hearing loss in two independent noise-exposed populations

    Part of Annals of Human Genetics, p. 215-224, 2009.

    DOI To DiVA

  • Konings, Annelies; Van Laer, Lut; Michel, Sophie; Pawelczyk, Malgorzata et al.

    Variations in HSP70 genes associated with noise-induced hearing loss in two independent populations

    Part of European Journal of Human Genetics, p. 329-35, 2009.

    DOI To DiVA

  • Nyström, Anna-Maja; Ekvall, Sara; Berglund, Erna; Björkqvist, Maria et al.

    Noonan and cardio-facio-cutanenous syndromes: two clinically and genetically overlapping disorders

    Part of Journal of Medical Genetics, p. 500-506, 2008.

    DOI To DiVA

  • Isaksson, Magnus; Stenberg, Johan; Dahl, Fredrik; Thuresson, Ann-Charlotte et al.

    MLGA--a rapid and cost-efficient assay for gene copy-number analysis

    Part of Nucleic Acids Research, p. e115-, 2007.

    DOI To DiVA

  • Thuresson, Ann-Charlotte; Bondeson, Marie-Louise; Edeby, Christina; Ellis, P. et al.

    Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation

    Part of Cytogenetic and Genome Research, p. 1-7, 2007.

    DOI To DiVA

  • Wester, Ulrika; Bondeson, Marie-Louise; Edeby, Christina; Annerén, Göran

    Clinical and molecular characterization of individuals with 18p deletion: a genotype-phenotype correlation

    Part of American Journal of Medical Genetics. Part A, p. 1164-1171, 2006.

    DOI To DiVA

  • Bondeson, Marie-Louise; Nyström, Anna-Maja; Gunnarsson, Ulrika; Vahlquist, Anders

    Connexin 26 (GJB2) mutations in two Swedish patients with atypical Vohwinkel (mutilating keratoderma plus deafness) and KID syndrome both extensively treated with acitretin

    Part of Acta Dermato-Venereologica, p. 503-508, 2006.

    DOI To DiVA

  • Van Laer, Lut; Carlsson, Per-Inge; Ottschytsch, Natacha; Bondeson, Marie-Louise et al.

    The contribution of genes involved in potassium-recyclingin the inner ear to noise-induced hearing loss

    Part of Human Mutation, p. 786-795, 2006.

    DOI To DiVA

  • Carlsson, Per-Inge; Van Laer, Lut; Borg, Erik; Bondeson, Marie-Louise et al.

    The influence of genetic variation in oxidative stress genes on human noise susceptibility

    Part of Hearing Research, p. 87-96, 2005.

    DOI To DiVA

  • Lower, Karen M; Solders, Göran; Bondeson, Marie-Louise; Nelson, John et al.

    1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family.

    Part of Eur J Hum Genet, p. 787-9, 2004.

    To DiVA

  • Malm, Gunilla; Bondeson, Marie-Louise; von Döbeln, Ulrika; Månsson, Jan-Eric

    [Mucopolysaccharidoses. New therapeutic possibilities increase the need of early diagnosis]

    Part of Lakartidningen, p. 1804-9, 2002.

    To DiVA

  • Lagerstedt, Kristina; Karsten, Stanislav; Carlberg, Britt-Marie; Kleijer, Wim J et al.

    Double-strand breaks may initiate the inversion mutation causing the Hunter syndrome

    Part of Human Molecular Genetics, p. 627-633, 1997.

    DOI To DiVA

  • Timms, Kirsten M; Bondesson, Marie-Louise; Ansari-Lari, Ali M; Lagerstedt, Kristina et al.

    Molecular and phenotypic variation in patients with severe Hunter syndrome

    Part of Human Molecular Genetics, p. 479-486, 1997.

    DOI To DiVA

  • Karsten, Stanislav L.; Lagerstedt, Kristina; Carlberg, Britt-Marie; Kleijer, Wim J et al.

    Two distinct deletions in the IDS gene and the gene W: a novel type of mutation associated with the Hunter syndrome

    Part of Genomics, p. 123-129, 1997.

    DOI To DiVA

  • Malmgren, Helena; Carlberg, Britt-Marie; Pettersson, Ulf; Bondeson, Marie-Louise

    Identification of an alternative transcript fromthe human iduronate-2-sulfatase (IDS) gene

    Part of Genomics, p. 291-293, 1995.

    DOI To DiVA

  • Bondeson, Marie-Louise; Dahl, Niklas; Malmgren, Helena; Kleijer, Wim J. et al.

    Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome

    Part of Human Molecular Genetics, p. 615-621, 1995.

    To DiVA

  • Bondeson, Marie-Louise; Malmgren, Helena; Dahl, Niklas; Carlberg, Britt-Marie et al.

    Presence of an IDS-related locus (IDS2) in Xq28 complicates the mutational analysis of Hunter syndrome

    Part of European Journal of Human Genetics, p. 219-227, 1995.

    To DiVA

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