Klar J - Search Results

1

DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors.

Laan L, Klar J, Sobol M, Hoeber J, Shahsavani M, Kele M, Fatima A, Zakaria M, Annerén G, Falk A, Schuster J, Dahl N. Laan L, et al. Among authors: klar j. Clin Epigenetics. 2020 Jan 8;12(1):9. doi: 10.1186/s13148-019-0803-1. Clin Epigenetics. 2020. PMID: 31915063 Free PMC article.

2

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.

Draptchinskaia N, Gustavsson P, Andersson B, Pettersson M, Willig TN, Dianzani I, Ball S, Tchernia G, Klar J, Matsson H, Tentler D, Mohandas N, Carlsson B, Dahl N. Draptchinskaia N, et al. Among authors: klar j. Nat Genet. 1999 Feb;21(2):169-75. doi: 10.1038/5951. Nat Genet. 1999. PMID: 9988267

3

Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia.

Matsson H, Klar J, Draptchinskaia N, Gustavsson P, Carlsson B, Bowers D, de Bont E, Dahl N. Matsson H, et al. Among authors: klar j. Hum Genet. 1999 Nov;105(5):496-500. doi: 10.1007/s004399900165. Hum Genet. 1999. PMID: 10598818

4

Familial transient erythroblastopenia of childhood is associated with the chromosome 19q13.2 region but not caused by mutations in coding sequences of the ribosomal protein S19 (RPS19) gene.

Gustavsson P, Klar J, Matsson H, Forestier E, Henter JI, Rao S, Seip M, Skeppner G, Dahl N. Gustavsson P, et al. Among authors: klar j. Br J Haematol. 2002 Oct;119(1):261-4. doi: 10.1046/j.1365-2141.2002.03776.x. Br J Haematol. 2002. PMID: 12358933 Free article.

5

Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands.

Entesarian M, Matsson H, Klar J, Bergendal B, Olson L, Arakaki R, Hayashi Y, Ohuchi H, Falahat B, Bolstad AI, Jonsson R, Wahren-Herlenius M, Dahl N. Entesarian M, et al. Among authors: klar j. Nat Genet. 2005 Feb;37(2):125-7. doi: 10.1038/ng1507. Epub 2005 Jan 16. Nat Genet. 2005. PMID: 15654336

6

Klar J, Asling B, Carlsson B, Ulvsbäck M, Dellsén A, Ström C, Rhedin M, Forslund A, Annerén G, Ludvigsson JF, Dahl N. Klar J, et al. Eur J Hum Genet. 2005 Aug;13(8):928-34. doi: 10.1038/sj.ejhg.5201433. Eur J Hum Genet. 2005. PMID: 15886715

7

A Meniere's disease gene linked to chromosome 12p12.3.

Klar J, Frykholm C, Friberg U, Dahl N. Klar J, et al. Am J Med Genet B Neuropsychiatr Genet. 2006 Jul 5;141B(5):463-7. doi: 10.1002/ajmg.b.30347. Am J Med Genet B Neuropsychiatr Genet. 2006. PMID: 16741942

8

A founder mutation for ichthyosis prematurity syndrome restricted to 76 kb by haplotype association.

Melin M, Klar J, Jr Gedde-Dahl T, Fredriksson R, Hausser I, Brandrup F, Bygum A, Vahlquist A, Hellström Pigg M, Dahl N. Melin M, et al. Among authors: klar j. J Hum Genet. 2006;51(10):864-871. doi: 10.1007/s10038-006-0035-z. Epub 2006 Sep 1. J Hum Genet. 2006. PMID: 16946994

9

Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis.

Dahlqvist J, Klar J, Hausser I, Anton-Lamprecht I, Pigg MH, Gedde-Dahl T Jr, Gånemo A, Vahlquist A, Dahl N. Dahlqvist J, et al. Among authors: klar j. J Med Genet. 2007 Oct;44(10):615-20. doi: 10.1136/jmg.2007.050542. Epub 2007 Jun 8. J Med Genet. 2007. PMID: 17557927 Free PMC article.

10

A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent and frequent in the Swedish population.

Entesarian M, Carlsson B, Mansouri MR, Stattin EL, Holmberg E, Golovleva I, Stefansson H, Klar J, Dahl N. Entesarian M, et al. Among authors: klar j. Am J Med Genet A. 2009 Mar;149A(3):380-6. doi: 10.1002/ajmg.a.32663. Am J Med Genet A. 2009. PMID: 19213037

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