Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

111 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Ataxia-pancytopenia syndrome with SAMD9L mutations.
Gorcenco S, Komulainen-Ebrahim J, Nordborg K, Suo-Palosaari M, Andréasson S, Krüger J, Nilsson C, Kjellström U, Rahikkala E, Turkiewicz D, Karlberg M, Nilsson L, Cammenga J, Tedgård U, Davidsson J, Uusimaa J, Puschmann A. Gorcenco S, et al. Among authors: davidsson j. Neurol Genet. 2017 Aug 24;3(5):e183. doi: 10.1212/NXG.0000000000000183. eCollection 2017 Oct. Neurol Genet. 2017. PMID: 28852709 Free PMC article.
Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.
Tesi B, Davidsson J, Voss M, Rahikkala E, Holmes TD, Chiang SCC, Komulainen-Ebrahim J, Gorcenco S, Rundberg Nilsson A, Ripperger T, Kokkonen H, Bryder D, Fioretos T, Henter JI, Möttönen M, Niinimäki R, Nilsson L, Pronk CJ, Puschmann A, Qian H, Uusimaa J, Moilanen J, Tedgård U, Cammenga J, Bryceson YT. Tesi B, et al. Among authors: davidsson j. Blood. 2017 Apr 20;129(16):2266-2279. doi: 10.1182/blood-2016-10-743302. Epub 2017 Feb 15. Blood. 2017. PMID: 28202457 Free PMC article.
Tiling resolution array comparative genomic hybridization, expression and methylation analyses of dup(1q) in Burkitt lymphomas and pediatric high hyperdiploid acute lymphoblastic leukemias reveal clustered near-centromeric breakpoints and overexpression of genes in 1q22-32.3.
Davidsson J, Andersson A, Paulsson K, Heidenblad M, Isaksson M, Borg A, Heldrup J, Behrendtz M, Panagopoulos I, Fioretos T, Johansson B. Davidsson J, et al. Hum Mol Genet. 2007 Sep 15;16(18):2215-25. doi: 10.1093/hmg/ddm173. Epub 2007 Jul 5. Hum Mol Genet. 2007. PMID: 17613536
The t(X;7)(q22;q34) in paediatric T-cell acute lymphoblastic leukaemia results in overexpression of the insulin receptor substrate 4 gene through illegitimate recombination with the T-cell receptor beta locus.
Karrman K, Kjeldsen E, Lassen C, Isaksson M, Davidsson J, Andersson A, Hasle H, Fioretos T, Johansson B. Karrman K, et al. Among authors: davidsson j. Br J Haematol. 2009 Feb;144(4):546-51. doi: 10.1111/j.1365-2141.2008.07453.x. Epub 2008 Nov 13. Br J Haematol. 2009. PMID: 19055661 Free article.
The DNA methylome of pediatric acute lymphoblastic leukemia.
Davidsson J, Lilljebjörn H, Andersson A, Veerla S, Heldrup J, Behrendtz M, Fioretos T, Johansson B. Davidsson J, et al. Hum Mol Genet. 2009 Nov 1;18(21):4054-65. doi: 10.1093/hmg/ddp354. Epub 2009 Aug 13. Hum Mol Genet. 2009. PMID: 19679565
111 results