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104 results

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Page 1
Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.
Mirza-Schreiber N, Zech M, Wilson R, Brunet T, Wagner M, Jech R, Boesch S, Škorvánek M, Necpál J, Weise D, Weber S, Mollenhauer B, Trenkwalder C, Maier EM, Borggraefe I, Vill K, Hackenberg A, Pilshofer V, Kotzaeridou U, Schwaibold EMC, Hoefele J, Waldenberger M, Gieger C, Peters A, Meitinger T, Schormair B, Winkelmann J, Oexle K. Mirza-Schreiber N, et al. Among authors: oexle k. Brain. 2022 Apr 18;145(2):644-654. doi: 10.1093/brain/awab360. Brain. 2022. PMID: 34590685
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.
Gong Y, Slee RB, Fukai N, Rawadi G, Roman-Roman S, Reginato AM, Wang H, Cundy T, Glorieux FH, Lev D, Zacharin M, Oexle K, Marcelino J, Suwairi W, Heeger S, Sabatakos G, Apte S, Adkins WN, Allgrove J, Arslan-Kirchner M, Batch JA, Beighton P, Black GC, Boles RG, Boon LM, Borrone C, Brunner HG, Carle GF, Dallapiccola B, De Paepe A, Floege B, Halfhide ML, Hall B, Hennekam RC, Hirose T, Jans A, Jüppner H, Kim CA, Keppler-Noreuil K, Kohlschuetter A, LaCombe D, Lambert M, Lemyre E, Letteboer T, Peltonen L, Ramesar RS, Romanengo M, Somer H, Steichen-Gersdorf E, Steinmann B, Sullivan B, Superti-Furga A, Swoboda W, van den Boogaard MJ, Van Hul W, Vikkula M, Votruba M, Zabel B, Garcia T, Baron R, Olsen BR, Warman ML; Osteoporosis-Pseudoglioma Syndrome Collaborative Group. Gong Y, et al. Among authors: oexle k. Cell. 2001 Nov 16;107(4):513-23. doi: 10.1016/s0092-8674(01)00571-2. Cell. 2001. PMID: 11719191 Free article.
Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels.
Oexle K, Ried JS, Hicks AA, Tanaka T, Hayward C, Bruegel M, Gögele M, Lichtner P, Müller-Myhsok B, Döring A, Illig T, Schwienbacher C, Minelli C, Pichler I, Fiedler GM, Thiery J, Rudan I, Wright AF, Campbell H, Ferrucci L, Bandinelli S, Pramstaller PP, Wichmann HE, Gieger C, Winkelmann J, Meitinger T. Oexle K, et al. Hum Mol Genet. 2011 Mar 1;20(5):1042-7. doi: 10.1093/hmg/ddq538. Epub 2010 Dec 10. Hum Mol Genet. 2011. PMID: 21149283 Free PMC article.
Sampling GWAS subjects from risk populations.
Oexle K, Meitinger T. Oexle K, et al. Genet Epidemiol. 2011 Apr;35(3):148-53. doi: 10.1002/gepi.20562. Epub 2011 Feb 16. Genet Epidemiol. 2011. PMID: 21328614
Myoclonus-dystonia in 18p deletion syndrome.
Kowarik MC, Langer S, Keri C, Hemmer B, Oexle K, Winkelmann J. Kowarik MC, et al. Among authors: oexle k. Mov Disord. 2011 Feb 15;26(3):560-1. doi: 10.1002/mds.23446. Epub 2010 Dec 13. Mov Disord. 2011. PMID: 21462265 No abstract available.
MEIS1 and BTBD9: genetic association with restless leg syndrome in end stage renal disease.
Schormair B, Plag J, Kaffe M, Gross N, Czamara D, Samtleben W, Lichtner P, Ströhle A, Stefanidis I, Vainas A, Dardiotis E, Sakkas GK, Gieger C, Müller-Myhsok B, Meitinger T, Heemann U, Hadjigeorgiou GM, Oexle K, Winkelmann J. Schormair B, et al. Among authors: oexle k. J Med Genet. 2011 Jul;48(7):462-6. doi: 10.1136/jmg.2010.087858. Epub 2011 May 14. J Med Genet. 2011. PMID: 21572129 Free PMC article.
Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.
Hartig MB, Iuso A, Haack T, Kmiec T, Jurkiewicz E, Heim K, Roeber S, Tarabin V, Dusi S, Krajewska-Walasek M, Jozwiak S, Hempel M, Winkelmann J, Elstner M, Oexle K, Klopstock T, Mueller-Felber W, Gasser T, Trenkwalder C, Tiranti V, Kretzschmar H, Schmitz G, Strom TM, Meitinger T, Prokisch H. Hartig MB, et al. Among authors: oexle k. Am J Hum Genet. 2011 Oct 7;89(4):543-50. doi: 10.1016/j.ajhg.2011.09.007. Am J Hum Genet. 2011. PMID: 21981780 Free PMC article.
Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features.
Hopfner F, Schormair B, Knauf F, Berthele A, Tölle TR, Baron R, Maier C, Treede RD, Binder A, Sommer C, Maihöfner C, Kunz W, Zimprich F, Heemann U, Pfeufer A, Näbauer M, Kääb S, Nowak B, Gieger C, Lichtner P, Trenkwalder C, Oexle K, Winkelmann J. Hopfner F, et al. Among authors: oexle k. BMC Neurol. 2011 Oct 27;11:134. doi: 10.1186/1471-2377-11-134. BMC Neurol. 2011. PMID: 22032306 Free PMC article.
104 results