Publikationer i DiVA – Marie-Louise Bondeson

A novel quantitative targeted analysis of X-chromosome Inactivation (XCI) using Nanopore sequencing

Johansson, Josefin; Lidéus, Sarah; Höijer, Ida; Ameur, Adam et al.

Ingår i Scientific Reports, 2023.

DOI för A novel quantitative targeted analysis of X-chromosome Inactivation (XCI) using Nanopore sequencing Ladda ner fulltext (pdf) av A novel quantitative targeted analysis of X-chromosome Inactivation (XCI) using Nanopore sequencing

Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis

Johansson, Josefin; Frykholm, Carina; Ericson, Katharina; Kazamia, Kalliopi et al.

Ingår i American Journal of Medical Genetics. Part A, s. 1676-1687, 2022.

DOI för Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis Ladda ner fulltext (pdf) av Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis

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

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

Ingår i BMC Medical Genetics, 2020.

DOI för A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report Ladda ner fulltext (pdf) av A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report

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

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

Ingår i Genome Biology, 2020.

DOI för Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity Ladda ner fulltext (pdf) av Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity

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

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

Ingår i European Journal of Medical Genetics, 2019.

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

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

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

Ingår i Scientific Reports, 2019.

DOI för TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish Ladda ner fulltext (pdf) av TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish

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

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

Ingår i American Journal of Medical Genetics. Part A, s. 1405-1410, 2018.

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

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

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

Ingår i Human Mutation, s. 1262-1272, 2018.

DOI för Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing Ladda ner fulltext (pdf) av Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing

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

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

Ingår i Clinical Genetics, s. 510-516, 2017.

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

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

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

Ingår i Prenatal Diagnosis, s. 1146-1154, 2017.

DOI för A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders Ladda ner fulltext (pdf) av A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders

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

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

Ingår i Hereditas, 2017.

DOI för 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 Ladda ner fulltext (pdf) av 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

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

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

Ingår i Human Molecular Genetics, s. 1070-1077, 2017.

DOI för Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26 Ladda ner fulltext (pdf) av Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26

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

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

Ingår i Molecular Psychiatry, s. 133-148, 2016.

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

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

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

Ingår i Journal of Medical Genetics, s. 195-202, 2015.

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

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

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

Ingår i BMC Medical Genetics, 2015.

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

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

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

Ingår i Human Molecular Genetics, s. 4315-4327, 2014.

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

'Congenital' nystagmus may hide various ophthalmic diagnoses

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

Ingår i Acta Ophthalmologica, s. 412-416, 2014.

DOI för 'Congenital' nystagmus may hide various ophthalmic diagnoses

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

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

Ingår i American Journal of Medical Genetics. Part A, s. 579-587, 2014.

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

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

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

Ingår i Journal of Medical Genetics, s. 104-109, 2012.

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

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

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

Ingår i Ophthalmic Genetics, s. 217-227, 2011.

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

Cardio-Facio-Cutaneous Syndrome: Does Genotype Predict Phenotype?

Allanson, Judith E.; Annerén, Göran; Aoki, Yoki; Armour, Christine M. et al.

Ingår i American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, s. 129-135, 2011.

DOI för Cardio-Facio-Cutaneous Syndrome: Does Genotype Predict Phenotype?

Co-Occurring SHOC2 and PTPN11 Mutations in a Patient With Severe/Complex Noonan Syndrome-Like Phenotype

Ekvall, Sara; Hagenäs, Lars; Allanson, Judith; Annerén, Göran et al.

Ingår i American Journal of Medical Genetics Part A, s. 1217-1224, 2011.

DOI för Co-Occurring SHOC2 and PTPN11 Mutations in a Patient With Severe/Complex Noonan Syndrome-Like Phenotype

Morphological and functional changes in multifocal vitelliform retinopathy and biallelic mutations in BEST1

Wittström, Elisabeth; Ekvall, Sara; Schatz, Patrik; Bondeson, Marie-Louise et al.

Ingår i Ophthalmic Genetics, s. 83-96, 2011.

DOI för Morphological and functional changes in multifocal vitelliform retinopathy and biallelic mutations in BEST1

Chimerism Resulting From Parthenogenetic Activation and Dispermic Fertilization

Winberg, Johanna; Gustavsson, Peter; Lagerstedt-Robinson, Kristina; Blennow, Elisabeth et al.

Ingår i American Journal of Medical Genetics, Part A, s. 2277-2286, 2010.

DOI för Chimerism Resulting From Parthenogenetic Activation and Dispermic Fertilization

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

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

Ingår i European Journal of Medical Genetics, s. 117-121, 2010.

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

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

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

Ingår i Acta Paediatrica, s. 693-698, 2009.

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

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

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

Ingår i Annals of Human Genetics, s. 215-224, 2009.

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

Noonan syndrome and Neurofibromatosis type I in a family with a novel mutation in NF1

Nyström, Anna-Maja; Ekvall, Sara; Allanson, Judith; Edeby, Christina et al.

Ingår i Clinical Genetics, s. 524-534, 2009.

DOI för Noonan syndrome and Neurofibromatosis type I in a family with a novel mutation in NF1

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

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

Ingår i European Journal of Human Genetics, s. 329-35, 2009.

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

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

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

Ingår i Journal of Medical Genetics, s. 500-506, 2008.

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

Association between variations in CAT and noise-induced hearing loss in two independent noise-exposed populations

Konings, Annelies; Van Laer, Lut; Pawelczyk, Malgorzata; Carlsson, Per-Inge et al.

Ingår i Human Molecular Genetics, s. 1872-1883, 2007.

DOI för Association between variations in CAT and noise-induced hearing loss in two independent noise-exposed populations

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

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

Ingår i Nucleic Acids Research, s. e115-, 2007.

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

The influence of genetic factors, smoking and cardiovascular disease on human noise susceptibility

Carlsson, Per Inge; Fransen, Erik; Stenberg, Emmeli; Bondeson, Marie-Louise

Ingår i Audiological Medicine, s. 82-91, 2007.

DOI för The influence of genetic factors, smoking and cardiovascular disease on human noise susceptibility

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

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

Ingår i Cytogenetic and Genome Research, s. 1-7, 2007.

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

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

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

Ingår i American Journal of Medical Genetics. Part A, s. 1164-1171, 2006.

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

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

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

Ingår i Acta Dermato-Venereologica, s. 503-508, 2006.

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

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

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

Ingår i Human Mutation, s. 786-795, 2006.

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

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

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

Ingår i Hearing Research, s. 87-96, 2005.

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

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

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

Ingår i Eur J Hum Genet, s. 787-9, 2004.

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

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

Ingår i Lakartidningen, s. 1804-9, 2002.

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

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

Ingår i Human Molecular Genetics, s. 627-633, 1997.

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

Molecular and phenotypic variation in patients with severe Hunter syndrome

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

Ingår i Human Molecular Genetics, s. 479-486, 1997.

DOI för Molecular and phenotypic variation in patients with severe Hunter syndrome

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

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

Ingår i Genomics, s. 123-129, 1997.

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

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

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

Ingår i Genomics, s. 291-293, 1995.

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

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

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

Ingår i Human Molecular Genetics, s. 615-621, 1995.

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

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

Ingår i European Journal of Human Genetics, s. 219-227, 1995.