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Linkage and Association Analysis Identifies TRAF1 Influencing Common Carotid Intima-Media Thickness.
Heßler N, Geisel MH, Coassin S, Erbel R, Heilmann S, Hennig F, Hoffmann B, Jöckel KH, Moebus S, Moskau-Hartmann S, Nürnberg G, Nürnberg P, Vens M, Klockgether T, Kronenberg F, Scherag A, Ziegler A. Heßler N, et al. Among authors: nurnberg p, nurnberg g. Stroke. 2016 Dec;47(12):2904-2909. doi: 10.1161/STROKEAHA.116.013943. Epub 2016 Nov 8. Stroke. 2016. PMID: 27827325
Mutations in different components of FGF signaling in LADD syndrome.
Rohmann E, Brunner HG, Kayserili H, Uyguner O, Nürnberg G, Lew ED, Dobbie A, Eswarakumar VP, Uzumcu A, Ulubil-Emeroglu M, Leroy JG, Li Y, Becker C, Lehnerdt K, Cremers CW, Yüksel-Apak M, Nürnberg P, Kubisch C, Schlessinger J, van Bokhoven H, Wollnik B. Rohmann E, et al. Among authors: nurnberg p, nurnberg g. Nat Genet. 2006 Apr;38(4):414-7. doi: 10.1038/ng1757. Epub 2006 Feb 26. Nat Genet. 2006. PMID: 16501574
Genome-wide linkage analysis of malaria infection intensity and mild disease.
Timmann C, Evans JA, König IR, Kleensang A, Rüschendorf F, Lenzen J, Sievertsen J, Becker C, Enuameh Y, Kwakye KO, Opoku E, Browne EN, Ziegler A, Nürnberg P, Horstmann RD. Timmann C, et al. Among authors: nurnberg p. PLoS Genet. 2007 Mar 23;3(3):e48. doi: 10.1371/journal.pgen.0030048. PLoS Genet. 2007. PMID: 17381244 Free PMC article.
Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene.
El-Harith el-HA, Roesl C, Ballmaier M, Germeshausen M, Frye-Boukhriss H, von Neuhoff N, Becker C, Nürnberg G, Nürnberg P, Ahmed MA, Hübener J, Schmidtke J, Welte K, Stuhrmann M. El-Harith el-HA, et al. Among authors: nurnberg p, nurnberg g. Br J Haematol. 2009 Jan;144(2):185-94. doi: 10.1111/j.1365-2141.2008.07430.x. Epub 2008 Nov 19. Br J Haematol. 2009. PMID: 19036112 Free article.
A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats.
Chung BD, Kayserili H, Ai M, Freudenberg J, Uzümcü A, Uyguner O, Bartels CF, Höning S, Ramirez A, Hanisch FG, Nürnberg G, Nürnberg P, Warman ML, Wollnik B, Kubisch C, Netzer C. Chung BD, et al. Among authors: nurnberg p, nurnberg g. Hum Mutat. 2009 Apr;30(4):641-8. doi: 10.1002/humu.20916. Hum Mutat. 2009. PMID: 19177549
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.
Kurth I, Pamminger T, Hennings JC, Soehendra D, Huebner AK, Rotthier A, Baets J, Senderek J, Topaloglu H, Farrell SA, Nürnberg G, Nürnberg P, De Jonghe P, Gal A, Kaether C, Timmerman V, Hübner CA. Kurth I, et al. Among authors: nurnberg p, nurnberg g. Nat Genet. 2009 Nov;41(11):1179-81. doi: 10.1038/ng.464. Epub 2009 Oct 18. Nat Genet. 2009. PMID: 19838196
689 results