Publications in DiVA – Göran Annerén

  • Laan, Loora; Klar, Joakim; Sobol, Maria; Hoeber, Jan et al.

    DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors

    Part of Clinical Epigenetics, 2020.

    Open access
  • Schuster, Jens; Hoeber, Jan; Sobol, Maria; Fatima, Ambrin et al.

    Generation of two human iPSC lines (UUIGPi013-A and UUIPGi014-A) from cases with Down syndrome and full trisomy for chromosome 21 (T21)

    Part of Stem Cell Research, 2020.

    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.

  • Wester Oxelgren, Ulrika; Westerlund, Joakim; Myrelid, Åsa; Annerén, Göran et al.

    An intervention targeting social, communication and daily activity skills in children and adolescents with Down syndrome and autism: a pilot study

    Part of Neuropsychiatric Disease and Treatment, p. 2049-2056, 2019.

    Open access
  • Wester Oxelgren, Ulrika; Åberg, Marie; Myrelid, Åsa; Annerén, Göran et al.

    Autism needs to be considered in children with Down syndrome

    Part of Acta Paediatrica, p. 2019-2026, 2019.

  • Frisk, Sofia; Taylan, Fulya; Blaszczyk, Izabela; Nennesmo, Inger et al.

    Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth

    Part of Clinical Genetics, p. 118-125, 2019.

    Open access
  • Angius, Andrea; Uva, Paolo; Oppo, Manuela; Buers, Insa et al.

    Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses

    Part of Clinical Genetics, p. 607-614, 2019.

  • Wester Oxelgren, Ulrika; Myrelid, Åsa; Annerén, Göran; Westerlund, Joakim et al.

    More severe intellectual disability found in teenagers compared to younger children with Down syndrome.

    Part of Acta Paediatrica, p. 961-966, 2019.

  • 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.

    Open access
  • Sobol, Maria; Klar, Joakim; Laan, Loora; Shahsavani, Mansoureh et al.

    Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions

    Part of Molecular Neurobiology, p. 7113-7127, 2019.

    Open access
  • 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.

    Open access
  • Wester Oxelgren, Ulrika; Myrelid, Åsa; Annerén, Göran; Ekstam, Bodil et al.

    Prevalence of autism and attention-deficit-hyperactivity disorder in Down syndrome: a population-based study

    Part of Developmental Medicine & Child Neurology, p. 276-283, 2017.

  • 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.

    Open access
  • Ternby, Ellen; Axelsson, Ove; Annerén, Göran; Lindgren, Peter et al.

    Why do pregnant women accept or decline prenatal diagnosis for Down syndrome?

    Part of Journal of community genetics, p. 237-242, 2016.

  • 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.

  • Terhal, Paulien A.; Nievelstein, Rutger Jan A. J.; Verver, Eva J. J.; Topsakal, Vedat et al.

    A Study of the Clinical and Radiological Features in a Cohort of 93 Patients with a COL2A1 Mutation Causing Spondyloepiphyseal Dysplasia Congenita or a Related Phenotype

    Part of American Journal of Medical Genetics. Part A, p. 461-475, 2015.

  • Ternby, Ellen; Ingvoldstad, Charlotta; Annerén, Göran; Lindgren, Peter et al.

    Information and knowledge about Down syndrome among women and partners after first trimester combined testing

    Part of Acta Obstetricia et Gynecologica Scandinavica, p. 329-32, 2015.

    Open access
  • Ternby, Ellen; Ingvoldstad, Charlotta; Annerén, Göran; Axelsson, Ove

    Midwives and information on prenatal testing with focus on Down syndrome

    Part of Prenatal Diagnosis, p. 1202-1207, 2015.

  • 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.

  • 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.

    Open access
  • Schuster, Jens; Halvardson, Jonatan; Lorenzo, Laureanne Pilar; Ameur, Adam et al.

    Transcriptome Profiling Reveals Degree of Variability in Induced Pluripotent Stem Cell Lines: Impact for Human Disease Modeling

    Part of Cellular Reprogramming, p. 327-337, 2015.

  • 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.

  • Skogberg, Gabriel; Lundberg, Vanja; Lindgren, Susanne; Gudmundsdottir, Judith et al.

    Altered Expression of Autoimmune Regulator in Infant Down Syndrome Thymus, a Possible Contributor to an Autoimmune Phenotype

    Part of Journal of Immunology, p. 2187-2195, 2014.

  • Winberg, Johanna; Gustavsson, Peter; Papadogiannakis, Nikos; Sahlin, Ellika et al.

    Mutation Screening and Array Comparative Genomic Hybridization Using a 180K Oligonucleotide Array in VACTERL Association

    Part of PLoS ONE, p. e85313-, 2014.

    Open access
  • 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.

  • 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.

  • Englund, Annika; Jonsson, Björn; Zander, Cecilia Soussi; Gustafsson, Jan et al.

    Changes in mortality and causes of death in the Swedish Down syndrome population

    Part of American Journal of Medical Genetics. Part A, p. 642-649, 2013.

  • 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.

  • 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.

  • 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.

  • 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.

  • 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.

  • 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.

  • Ljunger, Elisabeth; Stavreus-Evers, Anneli; Cnattingius, Sven; Ekbom, Anders et al.

    Ultrasonographic findings in spontaneous miscarriage: relation to euploidy and aneuploidy

    Part of Fertility and Sterility, p. 221-224, 2011.

  • 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.

  • Hedov, Gerth; Annerén, Göran

    Bättre stöd åt nyblivna föräldrar till barn med livslångt funktionshinder: Förslag till nya riktlinjer

    Part of Läkartidningen, p. 1477-1479, 2010.

  • 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.

  • 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.

  • Myrelid, Åsa; Frisk, Per; Stridsberg, Mats; Annerén, Göran et al.

    Normal growth hormone secretion in overweight young adults with Down syndrome

    Part of Growth Hormone & IGF Research, p. 174-178, 2010.

  • 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.

  • 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.

  • 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.

    Open access
  • Leoncini, Emanuele; Baranello, Giovanni; Orioli, Iêda M; Annerén, Göran et al.

    Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: Searching for population variations.

    Part of Birth defects research. Clinical and molecular teratology, p. 585-591, 2008.

  • 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.

  • Englund, Hillevi; Annerén, Göran; Gustafsson, Jan; Wester, Ulrika et al.

    Increase in beta-Amyloid Levels in Cerebrospinal Fluid of Children with Down Syndrome

    Part of Dementia and Geriatric Cognitive Disorders, p. 369-374, 2007.

  • 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.

  • Söderbergh, Annika; Gustafsson, Jan; Ekwall, Olov; Hallgren, Åsa et al.

    Autoantibodies linked to autoimmune polyendocrine syndrome type I are prevalent in Down syndrome

    Part of Acta Paediatrica, p. 1657-1660, 2006.

  • 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.

  • George, Lena; Granath, Fredrik; Johansson, Anna L. V.; Annerén, Göran et al.

    Environmental tobacco smoke and risk of spontaneous abortion

    Part of Epidemiology, p. 500-505, 2006.

  • Mansouri, Mahmoud Reza; Carlsson, Birgit; Davey, Edward; Nordenskjöld, Agneta et al.

    Molecular genetic analysis of a de novo balanced translocation t(6;17) (p21.31;q11.2) associated with hypospadias and anorectal malformation

    Part of Human Genetics, p. 162-168, 2006.

  • Hansson, Tony; Dahlbom, Ingrid; Rogberg, Siv; Nyberg, Britt-Inger et al.

    Antitissue transglutaminase and antithyroid autoantibodies in children with Down syndrome and celiac disease.

    Part of J Pediatr Gastroenterol Nutr, p. 170-4; discussion 125, 2005.

  • Ljunger, Elisabeth; Cnattingius, Sven; Lundin, Catarina; Anneren, Göran

    Chromosomal anomalies in first-trimester miscarriages.

    Part of Acta Obstet Gynecol Scand, p. 1103-7, 2005.

  • Le Blanc, Katarina; Götherström, Cecilia; Ringdeén, Olle; Hassan, Moustapha et al.

    Fetal Mesenchymal Stem-Cell Engraftment in Bone after In Utero Transplantation in a Patient with Severe Osteogenesis Imperfecta

    Part of Transplantation, p. 1607-14, 2005.

  • Schoumans, Jacqueline; Nordgren, Ann; Ruivenkamp, Claudia; Bröndum-Nielsen, Karen et al.

    Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome.

    Part of Eur J Hum Genet, p. 260-3, 2005.

  • Klar, Joakim; Åsling, Bengt; Carlsson, Birgit; Ulvsbäck, Magnus et al.

    RAR-related orphan receptor A isoform 1 (RORa1) is disrupted by a balanced translocation t(4;15)(q22.3;q21.3) associated with severe obesity.

    Part of Eur J Hum Genet, 2005.

  • Nyström, A-M; Bondeson, M-L; Skanke, N; Mårtensson, J et al.

    A novel nonsense mutation of the mineralocorticoid receptor gene in a Swedish family with pseudohypoaldosteronism type I (PHA1).

    Part of J Clin Endocrinol Metab, p. 227-31, 2004.

  • Dianzani, Irma; Garelli, E.; Gustavsson, P.; Carando, A. et al.

    Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene

    Part of Journal of Medical Genetics, p. e133-, 2003.

  • Wester, Ulrika; Brandberg, Göran; Larsson, M; Lönnerholm, Torsten et al.

    Chondrodysplasia punctata (CDP) with features of the tibia-metacarpal type and maternal phenytoin treatment during pregnancy

    Part of Prenatal Diagnosis, p. 663-668, 2002.

  • Tentler, Dmitry; Brandberg, Göran; Betancur, Catalina; Gillberg, Christopher et al.

    A balanced reciprocal translocation t(5;7)(q14;q32) associated with autistic disorder: molecular analysis of the chromosome 7 breakpoint

    Part of American Journal of Medical Genetics, p. 729-36, 2001.

  • Tentler, D.; Gustavsson, P.; Leisti, J.; Schueler, M. et al.

    Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia

    Part of European Journal of Human Genetics, p. 541-8, 1999.

  • Annerén, Göran; Hedov, Gerth; Wester, Ulrika

    Downs syndrom: ny kunskap ställer höga krav på medicinsk vård och habilitering

    Part of Socialmedicinsk Tidskrift, p. 71-79, 1999.

  • Arnell, Henrik; Nemeth, Antal; Annerén, Göran; Dahl, Niklas

    Progressive familial intrahepatic cholestasis (PFIC): evidence for genetic heterogeneity by exclusion of linkage to chromosome 18q21-q22

    Part of Human Genetics, p. 378-381, 1997.

  • Arnell, Henrik; Hjalmas, Kelm; Jagervall, Martin; Läckgren, Göran et al.

    The genetics of primary nocturnal enuresis: inheritance and suggestion of a second major gene on chromosome 12q

    Part of Journal of Medical Genetics, p. 360-5, 1997.

  • Edman Ahlbom, Bodil; Goetz, P; Korenberg, JR; Pettersson, Ulf et al.

    Molecular analysis of chromosome 21 in a patient with a phenotype of down syndrome and apparently normal karyotype

    Part of American Journal of Medical Genetics. Part A, p. 566-572, 1996.

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  • Annerén, Göran; Dahl, Niklas; Uddenfeldt, Ulrika; Janols, Lars-Olof

    Asperger syndrome in a boy with a balanced de novo translocation: t(17;19)(p13.3;p11)

    Part of American Journal of Medical Genetics, p. 330-1, 1995.