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tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
Budde BS, Namavar Y, Barth PG, Poll-The BT, Nürnberg G, Becker C, van Ruissen F, Weterman MA, Fluiter K, te Beek ET, Aronica E, van der Knaap MS, Höhne W, Toliat MR, Crow YJ, Steinling M, Voit T, Roelenso F, Brussel W, Brockmann K, Kyllerman M, Boltshauser E, Hammersen G, Willemsen M, Basel-Vanagaite L, Krägeloh-Mann I, de Vries LS, Sztriha L, Muntoni F, Ferrie CD, Battini R, Hennekam RC, Grillo E, Beemer FA, Stoets LM, Wollnik B, Nürnberg P, Baas F. Budde BS, et al. Among authors: toliat mr. Nat Genet. 2008 Sep;40(9):1113-8. doi: 10.1038/ng.204. Nat Genet. 2008. PMID: 18711368
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.
Rutsch F, Ruf N, Vaingankar S, Toliat MR, Suk A, Höhne W, Schauer G, Lehmann M, Roscioli T, Schnabel D, Epplen JT, Knisely A, Superti-Furga A, McGill J, Filippone M, Sinaiko AR, Vallance H, Hinrichs B, Smith W, Ferre M, Terkeltaub R, Nürnberg P. Rutsch F, et al. Among authors: toliat mr. Nat Genet. 2003 Aug;34(4):379-81. doi: 10.1038/ng1221. Nat Genet. 2003. PMID: 12881724
Haplotypes and SNPs in 13 lipid-relevant genes explain most of the genetic variance in high-density lipoprotein and low-density lipoprotein cholesterol.
Knoblauch H, Bauerfeind A, Toliat MR, Becker C, Luganskaja T, Günther UP, Rohde K, Schuster H, Junghans C, Luft FC, Nürnberg P, Reich JG. Knoblauch H, et al. Among authors: toliat mr. Hum Mol Genet. 2004 May 15;13(10):993-1004. doi: 10.1093/hmg/ddh119. Epub 2004 Mar 25. Hum Mol Genet. 2004. PMID: 15044381
New universal primers facilitate Pyrosequencing.
Aydin A, Toliat MR, Bähring S, Becker C, Nürnberg P. Aydin A, et al. Among authors: toliat mr. Electrophoresis. 2006 Feb;27(2):394-7. doi: 10.1002/elps.200500467. Electrophoresis. 2006. PMID: 16331584
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.
Crisponi L, Crisponi G, Meloni A, Toliat MR, Nurnberg G, Usala G, Uda M, Masala M, Hohne W, Becker C, Marongiu M, Chiappe F, Kleta R, Rauch A, Wollnik B, Strasser F, Reese T, Jakobs C, Kurlemann G, Cao A, Nurnberg P, Rutsch F. Crisponi L, et al. Among authors: toliat mr. Am J Hum Genet. 2007 May;80(5):971-81. doi: 10.1086/516843. Epub 2007 Mar 30. Am J Hum Genet. 2007. PMID: 17436252 Free PMC article.
113 results