Klar J - Search Results

1

Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia.

Fröjmark AS, Schuster J, Sobol M, Entesarian M, Kilander MBC, Gabrikova D, Nawaz S, Baig SM, Schulte G, Klar J, Dahl N. Fröjmark AS, et al. Among authors: klar j. Am J Hum Genet. 2011 Jun 10;88(6):852-860. doi: 10.1016/j.ajhg.2011.05.013. Am J Hum Genet. 2011. PMID: 21665003 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

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

9

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

10

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

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