Publications in DiVA – Ann-Charlotte Thuresson

  • Thuresson, Ann-Charlotte; Croft, Brittany; Hailer, Yasmin; Liminga, Gunnar et al.

    A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3.

    Part of Clinical Genetics, p. 325-329, 2020.

    DOI To DiVA

    Open access

  • Ramos, Jillian; Proven, Melissa; Halvardson, Jonatan; Hagelskamp, Felix et al.

    Identification and rescue of a tRNA wobble inosine deficiency causing intellectual disability disorder

    Part of RNA, p. 1654-1666, 2020.

    DOI Uploaded full-text To DiVA

  • Sobol, Maria; Thuresson, Ann-Charlotte; Palmberg, Nathalie; Zander, Cecilia Soussi

    Proximal Deletion 12q with a New Insight to Growth Retardation

    Part of Molecular Syndromology, p. 115-124, 2020.

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    Open access

  • Thuresson, Ann-Charlotte; Zander, Cecilia; Zhao, Jin James; Halvardson, Jonatan et al.

    Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability

    Part of Clinical Genetics, p. 436-439, 2019.

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    Open access

  • Rogers, Amanda; Golumbek, Paul; Cellini, Elena; Doccini, Viola et al.

    De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants

    Part of American Journal of Medical Genetics. Part A, p. 1748-1752, 2018.

    DOI To DiVA

  • Zhao, Jin James; Halvardson, Jonatan; Zander, Cecilia; Zaghlool, Ammar et al.

    Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability

    Part of American Journal of Medical Genetics Part B, p. 10-20, 2018.

    DOI Uploaded full-text To DiVA

    Open access

  • Yates, T. Michael; Suri, Mohnish; Desurkar, Archana; Lesca, Gaetan et al.

    SLC35A2-related congenital disorder of glycosylation: Defining the phenotype

    Part of European journal of paediatric neurology, p. 1095-1102, 2018.

    DOI To DiVA

  • Sobol, Maria; Thuresson, Ann-Charlotte

    Delineation of the critical region for proximal deletion of chromosome 12q

    Part of Molecular Cytogenetics, 2017.

    To DiVA

  • Zhao, Jin James; Halvardson, Jonatan; Knaus, Alexej; Georgii-Hemming, Patrik et al.

    Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function

    Part of Human Mutation, p. 1394-1401, 2017.

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    Open access

  • Thuresson, Ann-Charlotte; Van Buggenhout, Griet; Sheth, Frenny; Kamate, Mahesh et al.

    Whole-gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development

    Part of Clinical Genetics, p. 106-110, 2017.

    DOI To DiVA

  • Linhares, Natalia Duarte; Menezes Freire, Maira Cristina; do Carmo Lisboa Cardenas, Raony Guimaraes Correa; Pena, Heloisa Barbosa et al.

    1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency

    Part of Genetics and Molecular Biology, p. 349-357, 2016.

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    Open access

  • Zaghlool, Ammar; Halvardson, Jonatan; Zhao, Jin J.; Etemadikhah, Mitra et al.

    A Role for the Chromatin-Remodeling Factor BAZ1A in Neurodevelopment

    Part of Human Mutation, p. 964-975, 2016.

    DOI Uploaded full-text To DiVA

    Open access

  • Halvardson, Jonatan; Zhao, Jin J.; Zaghlool, Ammar; Wentzel, Christian et al.

    Mutations in HECW2 are associated with intellectual disability and epilepsy

    Part of Journal of Medical Genetics, p. 697-704, 2016.

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    Open access

  • Wentzel, Christian; Annerén, Göran; Thuresson, Ann-Charlotte

    A maternal de novo non-reciprocal translocation results in a 6q13-q16 deletion in one offspring and a 6q13-q16 duplication in another

    Part of European Journal of Medical Genetics, p. 259-263, 2014.

    DOI To DiVA

  • Popovici, Cornel; Busa, Tiffany; Boute, Odile; Thuresson, Ann-Charlotte et al.

    Whole ARX Gene Duplication is Compatible With Normal Intellectual Development

    Part of American Journal of Medical Genetics. Part A, p. 2324-2327, 2014.

    DOI To DiVA

  • Boudry-Labis, Elise; Demeer, Benedicte; Le Caignec, Cedric; Isidor, Bertrand et al.

    A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features

    Part of European Journal of Medical Genetics, p. 163-170, 2013.

    DOI To DiVA

  • Demeer, Benedicte; Andrieux, Joris; Receveur, Aline; Morin, Gilles et al.

    Duplication 16p13.3 and the CREBBP gene: Confirmation of the phenotype

    Part of European Journal of Medical Genetics, p. 26-31, 2013.

    DOI To DiVA

  • Wang, Peter; Carrion, Prescilla; Qiao, Ying; Tyson, Christine et al.

    Genotype-phenotype analysis of 18q12.1-q12.2 copy number variation in autism

    Part of European Journal of Medical Genetics, p. 420-425, 2013.

    DOI To DiVA

  • Bena, Frederique; Bruno, Damien L.; Eriksson, Mats; van Ravenswaaij-Arts, Conny et al.

    Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature

    Part of American Journal of Medical Genetics Part B, p. 388-403, 2013.

    DOI To DiVA

  • Becker, Kerstin; Di Donato, Nataliya; Holder-Espinasse, Muriel; Andrieux, Joris et al.

    De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability: further delineation of the 6q14 microdeletion syndrome and review of the literature

    Part of European Journal of Medical Genetics, p. 490-497, 2012.

    DOI To DiVA

  • Thierry, Gaelle; Beneteau, Claire; Pichon, Olivier; Flori, Elisabeth et al.

    Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures

    Part of American Journal of Medical Genetics. Part A, p. 1633-1640, 2012.

    DOI To DiVA

  • Palomares, Maria; Delicado, Alicia; Mansilla, Elena; Luisa de Torres, Maria et al.

    Characterization of a 8q21.11 Microdeletion Syndrome Associated with Intellectual Disability and a Recognizable Phenotype

    Part of American Journal of Human Genetics, p. 295-301, 2011.

    DOI To DiVA

  • Wentzel, Christian; Rajcan-Separovic, Evica; Ruivenkamp, Claudia A. L.; Chantot-Bastaraud, Sandra et al.

    Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11

    Part of European Journal of Human Genetics, p. 959-964, 2011.

    DOI To DiVA

  • Schuster, Jens; Sundblom, Jimmy; Thuresson, Ann-Charlotte; Hassin-Baer, Sharon et al.

    Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms

    Part of Neurogenetics, p. 65-72, 2011.

    DOI To DiVA

  • Lynch, Sally Ann; Foulds, Nicola; Thuresson, Ann-Charlotte; Collins, Amanda L. et al.

    The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth

    Part of European Journal of Human Genetics, p. 534-539, 2011.

    DOI To DiVA

  • Zambrano, Regina M.; Wohler, Elizabeth; Annerén, Göran; Thuresson, Ann-Charlotte et al.

    Unbalanced translocation 9;16 in two children with dysmorphic features, and severe developmental delay: Evidence of cross-over within derivative chromosome 9 in patient #1

    Part of European Journal of Medical Genetics, p. 189-193, 2011.

    DOI To DiVA

  • Wentzel, Christian; Lynch, S. A.; Stattin, E.-L.; Sharkey, F. H. et al.

    Interstitial Deletions at 6q14.1-q15 Associated with Obesity, Developmental Delay and a Distinct Clinical Phenotype

    Part of Molecular Syndromology, p. 75-81, 2010.

    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

  • Sharkey, Freddie H.; Foulds, N.; Thuresson, Ann-Charlotte; Collins, A. L. et al.

    The 12q14 microdeletion syndrome, 6 new cases confirming the role of HMGA2 in growth

    Part of Journal of Medical Genetics, p. S90-S90, 2010.

    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

  • Wentzel, Christian; Fernström, Maria; Öhrner, Ylva; Annerén, Göran et al.

    Clinical variability of the 22q11.2 duplication syndrome

    Part of European Journal of Medical Genetics, p. 501-510, 2008.

    DOI Uploaded full-text To DiVA

    Open access

  • de Ståhl, Teresita Díaz; Sandgren, Johanna; Piotrowski, Arkadiusz; Nord, Helena et al.

    Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array

    Part of Human Mutation, p. 398-408, 2008.

    DOI To DiVA

  • Schoumans, Jacqueline; Wincent, Josephine; Barbaro, Michela; Djureinovic, Tatjana et al.

    Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients

    Part of European Journal of Human Genetics, p. 143-149, 2007.

    DOI To DiVA

  • Thuresson, Ann-Charlotte; Kirsebom, Leif A.; Virtanen, Anders

    Inhibition of poly(A) polymerase by aminoglycosides

    Part of Biochimie, p. 1221-1227, 2007.

    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

  • Mantripragada, Kiran K; Thuresson, Ann-Charlotte; Piotrowski, Arek; Diaz De Ståhl, Teresita et al.

    Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH

    Part of Journal of Medical Genetics, p. 28-38, 2006.

    DOI To DiVA

  • Thuresson, Ann-Charlotte

    Regulation of Mammalian Poly(A) Polymerase Activity

    Uploaded full-text To DiVA

    Open access

  • Martinez, J; Ren, Yan-Guo; Thuresson, Ann-Charlotte; Hellman, Ulf et al.

    A 54-kDa fragment of the Poly(A)-specific ribonuclease is an oligomeric, processive, and cap-interacting Poly(A)-specific 3' exonuclease.

    Part of Journal of Biological Chemistry, p. 24222-24230, 2000.

    DOI To DiVA

  • Thuresson, Ann-Charlotte; Aström, Jonas; Aström, Anders; Grönvik, Kjell Olov et al.

    Multiple forms of poly(A) polymerases in human cells

    Part of Proceedings of the National Academy of Sciences of the United States of America, p. 979-983, 1994.

    DOI To DiVA

  • Gullberg, Donald; Tingström, Anders; Thuresson, A C; Olsson, L et al.

    Beta 1 integrin-mediated collagen gel contraction is stimulated by PDGF

    Part of Experimental Cell Research, p. 264-272, 1990.

    DOI To DiVA

  • Nordvarg, Helena; Kyriakopoulou, Christina B.; Thuresson, Ann-Charlotte; Larsson, Birgitta et al.

    Functional significance of multiple poly(A) polymerases: Modulation of a carboxyl terminally located regulatory region by alternative mRNA processing

    To DiVA

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