Klar J - Search Results

1

MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).

Wilbe M, Ekvall S, Eurenius K, Ericson K, Casar-Borota O, Klar J, Dahl N, Ameur A, Annerén G, Bondeson ML. Wilbe M, et al. Among authors: klar j. J Med Genet. 2015 Mar;52(3):195-202. doi: 10.1136/jmedgenet-2014-102730. Epub 2015 Jan 22. J Med Genet. 2015. PMID: 25612909

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

Assignment of the locus for ichthyosis prematurity syndrome to chromosome 9q33.3-34.13.

Klar J, Gedde-Dahl T Jr, Larsson M, Pigg M, Carlsson B, Tentler D, Vahlquist A, Dahl N. Klar J, et al. J Med Genet. 2004 Mar;41(3):208-12. doi: 10.1136/jmg.2003.012567. J Med Genet. 2004. PMID: 14985385 Free PMC article. No abstract available.

6

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

7

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

8

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

9

Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2.

Schatz P, Klar J, Andréasson S, Ponjavic V, Dahl N. Schatz P, et al. Among authors: klar j. Ophthalmic Genet. 2006 Jun;27(2):51-6. doi: 10.1080/13816810600677990. Ophthalmic Genet. 2006. PMID: 16754206

10

Familial Ménière's disease in five generations.

Frykholm C, Larsen HC, Dahl N, Klar J, Rask-Andersen H, Friberg U. Frykholm C, et al. Among authors: klar j. Otol Neurotol. 2006 Aug;27(5):681-6. doi: 10.1097/01.mao.0000226315.27811.c8. Otol Neurotol. 2006. PMID: 16868516

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