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Page 1
Rare variants in β-Amyloid precursor protein (APP) and Parkinson's disease.
Schulte EC, Fukumori A, Mollenhauer B, Hor H, Arzberger T, Perneczky R, Kurz A, Diehl-Schmid J, Hüll M, Lichtner P, Eckstein G, Zimprich A, Haubenberger D, Pirker W, Brücke T, Bereznai B, Molnar MJ, Lorenzo-Betancor O, Pastor P, Peters A, Gieger C, Estivill X, Meitinger T, Kretzschmar HA, Trenkwalder C, Haass C, Winkelmann J. Schulte EC, et al. Among authors: eckstein g. Eur J Hum Genet. 2015 Oct;23(10):1328-33. doi: 10.1038/ejhg.2014.300. Epub 2015 Jan 21. Eur J Hum Genet. 2015. PMID: 25604855 Free PMC article.
Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.
Lorenz-Depiereux B, Benet-Pages A, Eckstein G, Tenenbaum-Rakover Y, Wagenstaller J, Tiosano D, Gershoni-Baruch R, Albers N, Lichtner P, Schnabel D, Hochberg Z, Strom TM. Lorenz-Depiereux B, et al. Among authors: eckstein g. Am J Hum Genet. 2006 Feb;78(2):193-201. doi: 10.1086/499410. Epub 2005 Dec 9. Am J Hum Genet. 2006. PMID: 16358215 Free PMC article.
Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions.
Winkelmann J, Schormair B, Lichtner P, Ripke S, Xiong L, Jalilzadeh S, Fulda S, Pütz B, Eckstein G, Hauk S, Trenkwalder C, Zimprich A, Stiasny-Kolster K, Oertel W, Bachmann CG, Paulus W, Peglau I, Eisensehr I, Montplaisir J, Turecki G, Rouleau G, Gieger C, Illig T, Wichmann HE, Holsboer F, Müller-Myhsok B, Meitinger T. Winkelmann J, et al. Among authors: eckstein g. Nat Genet. 2007 Aug;39(8):1000-6. doi: 10.1038/ng2099. Epub 2007 Jul 18. Nat Genet. 2007. PMID: 17637780
PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome.
Schormair B, Kemlink D, Roeske D, Eckstein G, Xiong L, Lichtner P, Ripke S, Trenkwalder C, Zimprich A, Stiasny-Kolster K, Oertel W, Bachmann CG, Paulus W, Högl B, Frauscher B, Gschliesser V, Poewe W, Peglau I, Vodicka P, Vávrová J, Sonka K, Nevsimalova S, Montplaisir J, Turecki G, Rouleau G, Gieger C, Illig T, Wichmann HE, Holsboer F, Müller-Myhsok B, Meitinger T, Winkelmann J. Schormair B, et al. Among authors: eckstein g. Nat Genet. 2008 Aug;40(8):946-8. doi: 10.1038/ng.190. Epub 2008 Jul 27. Nat Genet. 2008. PMID: 18660810
Genome-wide scan identifies CDH13 as a novel susceptibility locus contributing to blood pressure determination in two European populations.
Org E, Eyheramendy S, Juhanson P, Gieger C, Lichtner P, Klopp N, Veldre G, Döring A, Viigimaa M, Sõber S, Tomberg K, Eckstein G; KORA; Kelgo P, Rebane T, Shaw-Hawkins S, Howard P, Onipinla A, Dobson RJ, Newhouse SJ, Brown M, Dominiczak A, Connell J, Samani N, Farrall M; BRIGHT; Caulfield MJ, Munroe PB, Illig T, Wichmann HE, Meitinger T, Laan M. Org E, et al. Among authors: eckstein g. Hum Mol Genet. 2009 Jun 15;18(12):2288-96. doi: 10.1093/hmg/ddp135. Epub 2009 Mar 20. Hum Mol Genet. 2009. PMID: 19304780 Free PMC article.
Mapping the genetic architecture of gene regulation in whole blood.
Schramm K, Marzi C, Schurmann C, Carstensen M, Reinmaa E, Biffar R, Eckstein G, Gieger C, Grabe HJ, Homuth G, Kastenmüller G, Mägi R, Metspalu A, Mihailov E, Peters A, Petersmann A, Roden M, Strauch K, Suhre K, Teumer A, Völker U, Völzke H, Wang-Sattler R, Waldenberger M, Meitinger T, Illig T, Herder C, Grallert H, Prokisch H. Schramm K, et al. Among authors: eckstein g. PLoS One. 2014 Apr 16;9(4):e93844. doi: 10.1371/journal.pone.0093844. eCollection 2014. PLoS One. 2014. PMID: 24740359 Free PMC article.
Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy.
Kremer LS, Distelmaier F, Alhaddad B, Hempel M, Iuso A, Küpper C, Mühlhausen C, Kovacs-Nagy R, Satanovskij R, Graf E, Berutti R, Eckstein G, Durbin R, Sauer S, Hoffmann GF, Strom TM, Santer R, Meitinger T, Klopstock T, Prokisch H, Haack TB. Kremer LS, et al. Among authors: eckstein g. Am J Hum Genet. 2016 Feb 4;98(2):358-62. doi: 10.1016/j.ajhg.2015.12.009. Epub 2016 Jan 21. Am J Hum Genet. 2016. PMID: 26805782 Free PMC article.
51 results