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Page 1
Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.
Cullinane AR, Straatman-Iwanowska A, Zaucker A, Wakabayashi Y, Bruce CK, Luo G, Rahman F, Gürakan F, Utine E, Ozkan TB, Denecke J, Vukovic J, Di Rocco M, Mandel H, Cangul H, Matthews RP, Thomas SG, Rappoport JZ, Arias IM, Wolburg H, Knisely AS, Kelly DA, Müller F, Maher ER, Gissen P. Cullinane AR, et al. Nat Genet. 2010 Apr;42(4):303-12. doi: 10.1038/ng.538. Epub 2010 Feb 28. Nat Genet. 2010. PMID: 20190753 Free PMC article.
Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.
Smith H, Galmes R, Gogolina E, Straatman-Iwanowska A, Reay K, Banushi B, Bruce CK, Cullinane AR, Romero R, Chang R, Ackermann O, Baumann C, Cangul H, Cakmak Celik F, Aygun C, Coward R, Dionisi-Vici C, Sibbles B, Inward C, Kim CA, Klumperman J, Knisely AS, Watson SP, Gissen P. Smith H, et al. Among authors: bruce ck. Hum Mutat. 2012 Dec;33(12):1656-64. doi: 10.1002/humu.22155. Epub 2012 Aug 6. Hum Mutat. 2012. PMID: 22753090 Free PMC article.
Design and validation of a metabolic disorder resequencing microarray (BRUM1).
Bruce CK, Smith M, Rahman F, Liu ZF, McMullan DJ, Ball S, Hartley J, Kroos MA, Heptinstall L, Reuser AJ, Rolfs A, Hendriksz C, Kelly DA, Barrett TG, MacDonald F, Maher ER, Gissen P. Bruce CK, et al. Hum Mutat. 2010 Jul;31(7):858-65. doi: 10.1002/humu.21261. Hum Mutat. 2010. PMID: 20578233
Association of the thyroid stimulating hormone receptor gene (TSHR) with Graves' disease.
Brand OJ, Barrett JC, Simmonds MJ, Newby PR, McCabe CJ, Bruce CK, Kysela B, Carr-Smith JD, Brix T, Hunt PJ, Wiersinga WM, Hegedüs L, Connell J, Wass JA, Franklyn JA, Weetman AP, Heward JM, Gough SC. Brand OJ, et al. Among authors: bruce ck. Hum Mol Genet. 2009 May 1;18(9):1704-13. doi: 10.1093/hmg/ddp087. Epub 2009 Feb 25. Hum Mol Genet. 2009. PMID: 19244275
886 results