Klar J - Search Results

1

ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function.

Schuster J, Klar J, Khalfallah A, Laan L, Hoeber J, Fatima A, Sequeira VM, Jin Z, Korol SV, Huss M, Nordgren A, Anderlid BM, Gallant C, Birnir B, Dahl N. Schuster J, et al. Among authors: klar j. Front Mol Neurosci. 2022 Oct 24;15:988993. doi: 10.3389/fnmol.2022.988993. eCollection 2022. Front Mol Neurosci. 2022. PMID: 36353360 Free PMC article.

2

Vascular endothelial growth factor-B induces myocardium-specific angiogenesis and arteriogenesis via vascular endothelial growth factor receptor-1- and neuropilin receptor-1-dependent mechanisms.

Lähteenvuo JE, Lähteenvuo MT, Kivelä A, Rosenlew C, Falkevall A, Klar J, Heikura T, Rissanen TT, Vähäkangas E, Korpisalo P, Enholm B, Carmeliet P, Alitalo K, Eriksson U, Ylä-Herttuala S. Lähteenvuo JE, et al. Among authors: klar j. Circulation. 2009 Feb 17;119(6):845-56. doi: 10.1161/CIRCULATIONAHA.108.816454. Epub 2009 Feb 2. Circulation. 2009. PMID: 19188502

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

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

8

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

9

WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome.

Nawaz S, Klar J, Wajid M, Aslam M, Tariq M, Schuster J, Baig SM, Dahl N. Nawaz S, et al. Among authors: klar j. Eur J Hum Genet. 2009 Dec;17(12):1600-5. doi: 10.1038/ejhg.2009.81. Epub 2009 May 27. Eur J Hum Genet. 2009. PMID: 19471313 Free PMC article.

10

Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome.

Klar J, Schweiger M, Zimmerman R, Zechner R, Li H, Törmä H, Vahlquist A, Bouadjar B, Dahl N, Fischer J. Klar J, et al. Am J Hum Genet. 2009 Aug;85(2):248-53. doi: 10.1016/j.ajhg.2009.06.021. Epub 2009 Jul 23. Am J Hum Genet. 2009. PMID: 19631310 Free PMC article.

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