Ann-Charlotte Thuresson

Validation of Guidelines for Genetic Investigation of Myeloid Neoplasms with Germline Predisposition: Results from a Prospective Cohort Study

Tesi, Bianca; Robelius, Anna; Baskin, Berivan; Lazarevic, Vladimir et al.

Ingår i Clinical Cancer Research, s. 3062-3071, 2025

• DOI för Validation of Guidelines for Genetic Investigation of Myeloid Neoplasms with Germline Predisposition: Results from a Prospective Cohort Study
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Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

Efthymiou, Stephanie; Leo, Cailyn P.; Deng, Chenghong; Lin, Sheng-Jia et al.

Ingår i American Journal of Human Genetics, 2025

• DOI för Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder
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Novel PNKP mutations associated with reduced DNA single-strand break repair and severe microcephaly, seizures, and developmental delay

Thuresson, Ann-Charlotte; Brazina, Jan; Akram, Talia; Albrecht, Julia et al.

Ingår i Molecular Genetics & Genomic Medicine, 2024

• DOI för Novel PNKP mutations associated with reduced DNA single-strand break repair and severe microcephaly, seizures, and developmental delay
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OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum

Celse, Tristan; Tingaud-Sequeira, Angèle; Dieterich, Klaus; Siegfried, Geraldine et al.

Ingår i Journal of Medical Genetics, s. 620-626, 2023

• DOI för OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum

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

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

Ingår i Clinical Genetics, s. 325-329, 2021

• DOI för A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3
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Validation of Guidelines for Genetic Investigation of Myeloid Neoplasms with Germline Predisposition: Results from a Prospective Cohort Study

Tesi, Bianca; Robelius, Anna; Baskin, Berivan; Lazarevic, Vladimir et al.

Ingår i Clinical Cancer Research, s. 3062-3071, 2025

• DOI för Validation of Guidelines for Genetic Investigation of Myeloid Neoplasms with Germline Predisposition: Results from a Prospective Cohort Study
• Ladda ner fulltext (pdf) av Validation of Guidelines for Genetic Investigation of Myeloid Neoplasms with Germline Predisposition: Results from a Prospective Cohort Study

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

Efthymiou, Stephanie; Leo, Cailyn P.; Deng, Chenghong; Lin, Sheng-Jia et al.

Ingår i American Journal of Human Genetics, 2025

• DOI för Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder
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Novel PNKP mutations associated with reduced DNA single-strand break repair and severe microcephaly, seizures, and developmental delay

Thuresson, Ann-Charlotte; Brazina, Jan; Akram, Talia; Albrecht, Julia et al.

Ingår i Molecular Genetics & Genomic Medicine, 2024

• DOI för Novel PNKP mutations associated with reduced DNA single-strand break repair and severe microcephaly, seizures, and developmental delay
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OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum

Celse, Tristan; Tingaud-Sequeira, Angèle; Dieterich, Klaus; Siegfried, Geraldine et al.

Ingår i Journal of Medical Genetics, s. 620-626, 2023

• DOI för OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum

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

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

Ingår i Clinical Genetics, s. 325-329, 2021

• DOI för A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3
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Identification and rescue of a tRNA wobble inosine deficiency causing intellectual disability disorder

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

Ingår i RNA, s. 1654-1666, 2020

• DOI för Identification and rescue of a tRNA wobble inosine deficiency causing intellectual disability disorder
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Proximal Deletion 12q with a New Insight to Growth Retardation

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

Ingår i Molecular Syndromology, s. 115-124, 2020

• DOI för Proximal Deletion 12q with a New Insight to Growth Retardation
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Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability

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

Ingår i Clinical Genetics, s. 436-439, 2019

• DOI för Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability
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De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants

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

Ingår i American Journal of Medical Genetics. Part A, s. 1748-1752, 2018

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

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

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

Ingår i American Journal of Medical Genetics Part B, s. 10-20, 2018

• DOI för Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability
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SLC35A2-related congenital disorder of glycosylation: Defining the phenotype

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

Ingår i European journal of paediatric neurology, s. 1095-1102, 2018

• DOI för SLC35A2-related congenital disorder of glycosylation: Defining the phenotype

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

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

Ingår i Clinical Genetics, s. 106-110, 2017

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

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

Sobol, Maria; Thuresson, Ann-Charlotte

Ingår i Molecular Cytogenetics, 2017

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

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

Ingår i Human Mutation, s. 1394-1401, 2017

• DOI för Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function
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Mutations in HECW2 are associated with intellectual disability and epilepsy

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

Ingår i Journal of Medical Genetics, s. 697-704, 2016

• DOI för Mutations in HECW2 are associated with intellectual disability and epilepsy
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1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency

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

Ingår i Genetics and Molecular Biology, s. 349-357, 2016

• DOI för 1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency
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A Role for the Chromatin-Remodeling Factor BAZ1A in Neurodevelopment

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

Ingår i Human Mutation, s. 964-975, 2016

• DOI för A Role for the Chromatin-Remodeling Factor BAZ1A in Neurodevelopment
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Whole ARX Gene Duplication is Compatible With Normal Intellectual Development

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

Ingår i American Journal of Medical Genetics. Part A, s. 2324-2327, 2014

• DOI för Whole ARX Gene Duplication is Compatible With Normal Intellectual Development

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

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

Ingår i European Journal of Medical Genetics, s. 259-263, 2014

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

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

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

Ingår i European Journal of Medical Genetics, s. 26-31, 2013

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

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

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

Ingår i American Journal of Medical Genetics Part B, s. 388-403, 2013

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

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

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

Ingår i European Journal of Medical Genetics, s. 163-170, 2013

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

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

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

Ingår i European Journal of Medical Genetics, s. 420-425, 2013

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

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

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

Ingår i American Journal of Medical Genetics. Part A, s. 1633-1640, 2012

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

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

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

Ingår i European Journal of Medical Genetics, s. 490-497, 2012

• DOI för 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

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

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

Ingår i European Journal of Medical Genetics, s. 189-193, 2011

• DOI för 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

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

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

Ingår i Neurogenetics, s. 65-72, 2011

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

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

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

Ingår i European Journal of Human Genetics, s. 534-539, 2011

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

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

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

Ingår i American Journal of Human Genetics, s. 295-301, 2011

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

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

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

Ingår i European Journal of Human Genetics, s. 959-964, 2011

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

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

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

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

Ingår i Journal of Medical Genetics, 2010

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

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

Ingår i Molecular Syndromology, s. 75-81, 2010

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

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

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

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

Ingår i Human Mutation, s. 398-408, 2008

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

Clinical variability of the 22q11.2 duplication syndrome

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

Ingår i European Journal of Medical Genetics, s. 501-510, 2008

• DOI för Clinical variability of the 22q11.2 duplication syndrome
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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, 2007

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

Inhibition of poly(A) polymerase by aminoglycosides

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

Ingår i Biochimie, s. 1221-1227, 2007

• DOI för Inhibition of poly(A) polymerase by aminoglycosides

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

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

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

Ingår i European Journal of Human Genetics, s. 143-149, 2007

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

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

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

Ingår i Journal of Medical Genetics, s. 28-38, 2006

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

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

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

Ingår i Journal of Biological Chemistry, s. 24222-24230, 2000

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

Multiple forms of poly(A) polymerases in human cells

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

Ingår i Proceedings of the National Academy of Sciences of the United States of America, s. 979-983, 1994

• DOI för Multiple forms of poly(A) polymerases in human cells

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

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

Ingår i Experimental Cell Research, s. 264-272, 1990

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

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

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

Regulation of Mammalian Poly(A) Polymerase Activity

Thuresson, Ann-Charlotte

2002

• Ladda ner fulltext (pdf) av Regulation of Mammalian Poly(A) Polymerase Activity

Array-based comparative genome hybridisation for detection of gene copy number variation in autism: Identification of novel loci

Mansouri, Mahmoud R; Thuresson, Ann-Charlotte; Isaksson, Magnus; Stenberg, Johan et al.

Unbalanced de novo translocation in mother resulting in one child with a 6q13-q16 deletion and one child with a 6q13-q16 duplication

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