Klar J - Search Results

1

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.

Delvallée C, Nicaise S, Antin M, Leuvrey AS, Nourisson E, Leitch CC, Kellaris G, Stoetzel C, Geoffroy V, Scheidecker S, Keren B, Depienne C, Klar J, Dahl N, Deleuze JF, Génin E, Redon R, Demurger F, Devriendt K, Mathieu-Dramard M, Poitou-Bernert C, Odent S, Katsanis N, Mandel JL, Davis EE, Dollfus H, Muller J. Delvallée C, et al. Among authors: klar j. Clin Genet. 2021 Feb;99(2):318-324. doi: 10.1111/cge.13878. Epub 2020 Nov 14. Clin Genet. 2021. PMID: 33169370 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

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

5

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

6

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

7

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

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

Alpha-cardiac actin mutations produce atrial septal defects.

Matsson H, Eason J, Bookwalter CS, Klar J, Gustavsson P, Sunnegårdh J, Enell H, Jonzon A, Vikkula M, Gutierrez I, Granados-Riveron J, Pope M, Bu'Lock F, Cox J, Robinson TE, Song F, Brook DJ, Marston S, Trybus KM, Dahl N. Matsson H, et al. Among authors: klar j. Hum Mol Genet. 2008 Jan 15;17(2):256-65. doi: 10.1093/hmg/ddm302. Epub 2007 Oct 18. Hum Mol Genet. 2008. PMID: 17947298

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