Magnus Nordenskjöld
Karolinska Institutet
300 Papers
3.7K Citations
Magnus Nordenskjöld is an academic researcher from Karolinska Institutet. The author has contributed to research in topics: Locus (genetics) & Gene. The author has an hindex of 73, co-authored 293 publications. Previous affiliations of Magnus Nordenskjöld include Stockholm County Council & Karolinska University Hospital.
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Papers
Detailed clinical description of four patients with 1.3 and 2.1 Mb chromosome imbalances derived from a familial t(12;17)(q24.33;q25.3).
TL;DR: A family carrying a submicroscopic reciprocal translocation involving 12qter and 17qter detected by subtelomeric FISH analysis illustrates that small chromosome imbalances can be detected in individuals with mild phenotype and normal, or near‐normal, cognitive functions.
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•Journal Article
Hereditary thyroid cancer can be cured by prophylactic surgery
Göran Wallin,A G Bondesson,Lars-Ove Farnebo,Bengt Hallengren,Bertil Hamberger,Svante Jansson,Ola Nilsson,Magnus Nordenskjöld,S Smeds,K A Svensson,O Wihlborg,Jan Zedenius +11 more
TL;DR: The first Swedish experience of such operations performed mainly on the basis of genetic analysis of carriers of MEN 2 mutations with the potential to eliminate the risk for potentially lethal medullary thyroid carcinoma is presented.
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Characterization of the frequency of delta F508 mutation and CF haplotypes in Swedish families.
Maria Anvret,Lisa Stolpe,Niklas Dahl,Maria Eiserman,Magnus Nordenskjöld,Maria Starborg,Lena Johansson +6 more
TL;DR: A sample of patients from Sweden was investigated for the presence of the delta F508 mutation in relation to haplotyping with the CF-linked markers KM19 and xv-2c and the frequency of the mutation on CFchromosomes in this material was high.
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Gain-of-function mutation of microRNA-140 in human skeletal dysplasia
rigelioniene G,Hiroshi I. Suzuki,Fulya Taylan,Fatemeh Mirzamohammadi,Zvi Borochowitz,Ugur M. Ayturk,Shay Tzur,Eva Horemuzova,Anna Lindstrand,MaryAnn Weis,rigelionis G,Anna Hammarsjö,Elin Marsk,Ann Nordgren,Magnus Nordenskjöld,David R. Eyre,Matthew L. Warman,Gen Nishimura,Phillip A. Sharp,Tatsuya Kobayashi +19 more
- 12 Sep 2019
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O-12. Single-cell comparative genomic hybridization analysis of human preimplantation embryos from patients with balanced structural chromosome aberrations undergoing PGD
Helena Malmgren,Sigrid Sahlén,José Inzunza,M. Aho,B Rosenlund,M Fridström,L Ährlund-Richter,Outi Hovatta,Magnus Nordenskjöld,E Blennow +9 more
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