Ann‐Charlotte Thuresson

Author

Also Known As

A C Thuresson, A.-C. Thuresson, Ann C. Thuresson, Ann Charlotte Thuresson, Ann-Charlotte Thuresson, Ann‐Charlotte Thuresson, A‐C. Thuresson, Tiffany Busa

Publications

1.9K

Citations

H-Index

Concepts

All Affiliations

Uppsala University Science for Life Laboratory Karolinska University Hospital Karolinska Institutet Hôpital Jeanne de Flandre

About

Ann‐Charlotte Thuresson is an author at Uppsala University specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	17	17	1.2K
2	Natural Sciences	4	4	191
3	Engineering	2	2	299
4	Social Sciences	2	2	57
5	Biology	1	1	66

Ann‐Charlotte Thuresson

Publications

1.7K

Citations

H-Index

Page 1

	Year	Citations
β1 Integrin-mediated collagen gel contraction is stimulated by PDGF Donald Gullberg, Anders Tingström, Ann‐Charlotte Thuresson, Experimental Cell Research MechanobiologyEngineeringCell AdhesionCell-matrix InteractionBiomedical Engineering	1990	270
Clinical variability of the 22q11.2 duplication syndrome Christian Wentzel, Maria Fernström, Ylva Öhrner, European Journal of Medical Genetics Genetic DisorderGeneticsDuplication SyndromePathologyMedicine	2008	222
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures Gaëlle Thierry, Claire Bénéteau, Olivier Pichon, American Journal of Medical Genetics Part A	2012	101
A 54-kDa Fragment of the Poly(A)-specific Ribonuclease Is an Oligomeric, Processive, and Cap-interacting Poly(A)-specific 3′ Exonuclease Javier Martı̂nez, Yan‐Guo Ren, Ann‐Charlotte Thuresson, Journal of Biological Chemistry	2000	98
A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features Elise Boudry‐Labis, Bénédicte Demeer, Cédric Le Caignec, European Journal of Medical Genetics Mendelian DisorderGenetic DisorderGeneticsNovel Microdeletion SyndromeNeuroscience	2012	73
Mutations in <i>HECW2</i> are associated with intellectual disability and epilepsy Jonatan Halvardson, Jin Zhao, Ammar Zaghlool, Journal of Medical Genetics	2016	68
Duplication 16p13.3 and the CREBBP gene: Confirmation of the phenotype Bénédicte Demeer, Joris Andrieux, Aline Receveur, European Journal of Medical Genetics BiologyGenetic DisorderNatural SciencesGeneticsGenomic Mechanism	2012	66
Multiple forms of poly(A) polymerases in human cells. Ann‐Charlotte Thuresson, Jonas Åström, Anders Åström, Proceedings of the National Academy of Sciences Polymerase Chain ReactionHuman CellProtein ExpressionMolecular Biological MethodNatural Sciences	1994	65
Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11 Christian Wentzel, Evica Rajcan‐Separovic, Claudia Ruivenkamp, European Journal of Human Genetics Interstitial DeletionsMedicineGeneticsGenetic DisorderPathology	2011	60
Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms Jens Schuster, Jimmy Sundblom, Ann‐Charlotte Thuresson, Neurogenetics Mendelian DisorderAutoimmune DiseaseGenetic DisorderGeneticsInherited Metabolic Disease	2011	54

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