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Genetic and functional identification of the likely causative variant for cholesterol gallstone disease at the ABCG5/8 lithogenic locus.
von Kampen O, Buch S, Nothnagel M, Azocar L, Molina H, Brosch M, Erhart W, von Schönfels W, Egberts J, Seeger M, Arlt A, Balschun T, Franke A, Lerch MM, Mayerle J, Kratzer W, Boehm BO, Huse K, Schniewind B, Tiemann K, Jiang ZY, Han TQ, Mittal B, Srivastava A, Fenger M, Jørgensen T, Schirin-Sokhan R, Tönjes A, Wittenburg H, Stumvoll M, Kalthoff H, Lammert F, Tepel J, Puschel K, Becker T, Schreiber S, Platzer M, Völzke H, Krawczak M, Miquel JF, Schafmayer C, Hampe J. von Kampen O, et al. Among authors: krawczak m. Hepatology. 2013 Jun;57(6):2407-17. doi: 10.1002/hep.26009. Epub 2013 Jan 25. Hepatology. 2013. PMID: 22898925
Association between insertion mutation in NOD2 gene and Crohn's disease in German and British populations.
Hampe J, Cuthbert A, Croucher PJ, Mirza MM, Mascheretti S, Fisher S, Frenzel H, King K, Hasselmeyer A, MacPherson AJ, Bridger S, van Deventer S, Forbes A, Nikolaus S, Lennard-Jones JE, Foelsch UR, Krawczak M, Lewis C, Schreiber S, Mathew CG. Hampe J, et al. Among authors: krawczak m. Lancet. 2001 Jun 16;357(9272):1925-8. doi: 10.1016/S0140-6736(00)05063-7. Lancet. 2001. PMID: 11425413
Evidence for a NOD2-independent susceptibility locus for inflammatory bowel disease on chromosome 16p.
Hampe J, Frenzel H, Mirza MM, Croucher PJ, Cuthbert A, Mascheretti S, Huse K, Platzer M, Bridger S, Meyer B, Nürnberg P, Stokkers P, Krawczak M, Mathew CG, Curran M, Schreiber S. Hampe J, et al. Among authors: krawczak m. Proc Natl Acad Sci U S A. 2002 Jan 8;99(1):321-6. doi: 10.1073/pnas.261567999. Epub 2001 Dec 18. Proc Natl Acad Sci U S A. 2002. PMID: 11752413 Free PMC article.
Sarcoidosis is associated with a truncating splice site mutation in BTNL2.
Valentonyte R, Hampe J, Huse K, Rosenstiel P, Albrecht M, Stenzel A, Nagy M, Gaede KI, Franke A, Haesler R, Koch A, Lengauer T, Seegert D, Reiling N, Ehlers S, Schwinger E, Platzer M, Krawczak M, Müller-Quernheim J, Schürmann M, Schreiber S. Valentonyte R, et al. Among authors: krawczak m. Nat Genet. 2005 Apr;37(4):357-64. doi: 10.1038/ng1519. Epub 2005 Feb 27. Nat Genet. 2005. PMID: 15735647
375 results