Publications in DiVA – Marie-Louise Bondeson
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A novel quantitative targeted analysis of X-chromosome Inactivation (XCI) using Nanopore sequencing
Part of Scientific Reports, 2023.
DOI for A novel quantitative targeted analysis of X-chromosome Inactivation (XCI) using Nanopore sequencing Download full text (pdf) of A novel quantitative targeted analysis of X-chromosome Inactivation (XCI) using Nanopore sequencing
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Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis
Part of American Journal of Medical Genetics. Part A, p. 1676-1687, 2022.
DOI for Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis Download full text (pdf) of Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis
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A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report
Part of BMC Medical Genetics, 2020.
DOI for A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report Download full text (pdf) of A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report
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Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity
Part of Genome Biology, 2020.
DOI for Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity Download full text (pdf) of Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity
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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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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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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.
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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 for Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing Download full text (pdf) of Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing
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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.
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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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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 for 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 Download full text (pdf) of 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
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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 for Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26 Download full text (pdf) of Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26
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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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'Congenital' nystagmus may hide various ophthalmic diagnoses
Part of Acta Ophthalmologica, p. 412-416, 2014.
DOI for 'Congenital' nystagmus may hide various ophthalmic diagnoses
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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 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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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.
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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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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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Chimerism Resulting From Parthenogenetic Activation and Dispermic Fertilization
Part of American Journal of Medical Genetics, Part A, p. 2277-2286, 2010.
DOI for Chimerism Resulting From Parthenogenetic Activation and Dispermic Fertilization
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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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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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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.
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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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MLGA--a rapid and cost-efficient assay for gene copy-number analysis
Part of Nucleic Acids Research, p. e115-, 2007.
DOI for MLGA--a rapid and cost-efficient assay for gene copy-number analysis
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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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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.
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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.
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[Mucopolysaccharidoses. New therapeutic possibilities increase the need of early diagnosis]
Part of Lakartidningen, p. 1804-9, 2002.
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Double-strand breaks may initiate the inversion mutation causing the Hunter syndrome
Part of Human Molecular Genetics, p. 627-633, 1997.
DOI for Double-strand breaks may initiate the inversion mutation causing the Hunter syndrome
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Molecular and phenotypic variation in patients with severe Hunter syndrome
Part of Human Molecular Genetics, p. 479-486, 1997.
DOI for Molecular and phenotypic variation in patients with severe Hunter syndrome
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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.
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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.