Publications in DiVA – Göran Annerén
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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.
DOI for DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors Download full text (pdf) of DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors
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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.
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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.
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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.
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Autism needs to be considered in children with Down syndrome
Part of Acta Paediatrica, p. 2019-2026, 2019.
DOI for Autism needs to be considered in children with Down syndrome
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Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth
Part of Clinical Genetics, p. 118-125, 2019.
DOI for Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth Download full text (pdf) of Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth
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TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish
Part of Scientific Reports, 2019.
DOI for TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish Download full text (pdf) of TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish
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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.
DOI for Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions Download full text (pdf) of Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions
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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 for A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders Download full text (pdf) of A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders
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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.
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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.
DOI for 1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency Download full text (pdf) of 1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency
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Why do pregnant women accept or decline prenatal diagnosis for Down syndrome?
Part of Journal of community genetics, p. 237-242, 2016.
DOI for Why do pregnant women accept or decline prenatal diagnosis for Down syndrome?
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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.
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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.
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Midwives and information on prenatal testing with focus on Down syndrome
Part of Prenatal Diagnosis, p. 1202-1207, 2015.
DOI for Midwives and information on prenatal testing with focus on Down syndrome
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MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).
Part of Journal of Medical Genetics, p. 195-202, 2015.
DOI for MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).
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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.
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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.
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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.
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Mutation Screening and Array Comparative Genomic Hybridization Using a 180K Oligonucleotide Array in VACTERL Association
Part of PLOS ONE, p. e85313-, 2014.
DOI for Mutation Screening and Array Comparative Genomic Hybridization Using a 180K Oligonucleotide Array in VACTERL Association Download full text (pdf) of Mutation Screening and Array Comparative Genomic Hybridization Using a 180K Oligonucleotide Array in VACTERL Association
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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.
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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.
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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.
DOI for Changes in mortality and causes of death in the Swedish Down syndrome population
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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 for Genotype-phenotype analysis of 18q12.1-q12.2 copy number variation in autism
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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.
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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.
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Cardio-Facio-Cutaneous Syndrome: Does Genotype Predict Phenotype?
Part of American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, p. 129-135, 2011.
DOI for Cardio-Facio-Cutaneous Syndrome: Does Genotype Predict Phenotype?
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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.
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Co-Occurring SHOC2 and PTPN11 Mutations in a Patient With Severe/Complex Noonan Syndrome-Like Phenotype
Part of American Journal of Medical Genetics Part A, p. 1217-1224, 2011.
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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.
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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 for The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth
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Ultrasonographic findings in spontaneous miscarriage: relation to euploidy and aneuploidy
Part of Fertility and Sterility, p. 221-224, 2011.
DOI for Ultrasonographic findings in spontaneous miscarriage: relation to euploidy and aneuploidy
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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.
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Bättre stöd åt nyblivna föräldrar till barn med livslångt funktionshinder: Förslag till nya riktlinjer
Part of Läkartidningen, p. 1477-1479, 2010.
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How Valid Are the Rates of Down Syndrome Internationally?: Findings from the International Clearinghouse for Birth Defects Surveillance and Research
Part of American Journal of Medical Genetics, Part A, p. 1670-1680, 2010.
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International Trends of Down Syndrome 1993-2004: Births in Relation to Maternal Age and Terminations of Pregnancies
Part of Birth defects research. Clinical and molecular teratology, p. 474-479, 2010.
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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.
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Late effects of early growth hormone treatment in Down syndrome
Part of Acta Paediatrica, p. 763-769, 2010.
DOI for Late effects of early growth hormone treatment in Down syndrome
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Normal growth hormone secretion in overweight young adults with Down syndrome
Part of Growth Hormone & IGF Research, p. 174-178, 2010.
DOI for Normal growth hormone secretion in overweight young adults with Down syndrome
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The 12q14 microdeletion syndrome, 6 new cases confirming the role of HMGA2 in growth
Part of Journal of Medical Genetics, p. S90-S90, 2010.
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Increased neonatal thyrotropin in Down syndrome
Part of Acta Paediatrica, p. 1010-1013, 2009.
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Noonan syndrome and Neurofibromatosis type I in a family with a novel mutation in NF1
Part of Clinical Genetics, p. 524-534, 2009.
DOI for Noonan syndrome and Neurofibromatosis type I in a family with a novel mutation in NF1
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The Swedish Birth Defects Registry: ascertainment and incidence of spina bifida and cleft lip/palate
Part of Acta Obstetricia et Gynecologica Scandinavica, p. 654-659, 2009.
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Clinical variability of the 22q11.2 duplication syndrome
Part of European Journal of Medical Genetics, p. 501-510, 2008.
DOI for Clinical variability of the 22q11.2 duplication syndrome Download full text (pdf) of Clinical variability of the 22q11.2 duplication syndrome
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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.
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Noonan and cardio-facio-cutanenous syndromes: two clinically and genetically overlapping disorders
Part of Journal of Medical Genetics, p. 500-506, 2008.
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Duplication 16q12.1-q22.1 characterized by array CGH in a girl with spina bifida
Part of European Journal of Medical Genetics, p. 237-241, 2007.
DOI for Duplication 16q12.1-q22.1 characterized by array CGH in a girl with spina bifida
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Gastroschisis and associated defects: an international study
Part of American Journal of Medical Genetics, Part A, p. 660-671, 2007.
DOI for Gastroschisis and associated defects: an international study
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Increase in beta-Amyloid Levels in Cerebrospinal Fluid of Children with Down Syndrome
Part of Dementia and Geriatric Cognitive Disorders, p. 369-374, 2007.
DOI for Increase in beta-Amyloid Levels in Cerebrospinal Fluid of Children with Down Syndrome
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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.
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Environmental tobacco smoke and risk of spontaneous abortion
Part of Epidemiology, p. 500-505, 2006.
DOI for Environmental tobacco smoke and risk of spontaneous abortion
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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.
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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.
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Chromosomal anomalies in first-trimester miscarriages.
Part of Acta Obstet Gynecol Scand, p. 1103-7, 2005.
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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.
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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.
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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.
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Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene
Part of Journal of Medical Genetics, p. e133-, 2003.
DOI for Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene
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Chondrodysplasia punctata (CDP) with features of the tibia-metacarpal type and maternal phenytoin treatment during pregnancy
Part of Prenatal Diagnosis, p. 663-668, 2002.
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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.
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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.
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Downs syndrom: ny kunskap ställer höga krav på medicinsk vård och habilitering
Part of Socialmedicinsk Tidskrift, p. 71-79, 1999.
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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.
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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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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.
DOI for Asperger syndrome in a boy with a balanced de novo translocation: t(17;19)(p13.3;p11)