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Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome.
Cliffe ST, Bloch DB, Suryani S, Kamsteeg EJ, Avery DT, Palendira U, Church JA, Wainstein BK, Trizzino A, Lefranc G, Akatcherian C, Megarbané A, Gilissen C, Moshous D, Reichenbach J, Misbah S, Salzer U, Abinun M, Ong PY, Stepensky P, Ruga E, Ziegler JB, Wong M, Tangye SG, Lindeman R, Buckley MF, Roscioli T. Cliffe ST, et al. Among authors: buckley mf. J Allergy Clin Immunol. 2012 Sep;130(3):735-742.e6. doi: 10.1016/j.jaci.2012.02.054. Epub 2012 May 21. J Allergy Clin Immunol. 2012. PMID: 22621957
Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease.
Roscioli T, Cliffe ST, Bloch DB, Bell CG, Mullan G, Taylor PJ, Sarris M, Wang J, Donald JA, Kirk EP, Ziegler JB, Salzer U, McDonald GB, Wong M, Lindeman R, Buckley MF. Roscioli T, et al. Among authors: buckley mf. Nat Genet. 2006 Jun;38(6):620-2. doi: 10.1038/ng1780. Epub 2006 Apr 30. Nat Genet. 2006. PMID: 16648851 Free article.
SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.
Cliffe ST, Kramer JM, Hussain K, Robben JH, de Jong EK, de Brouwer AP, Nibbeling E, Kamsteeg EJ, Wong M, Prendiville J, James C, Padidela R, Becknell C, van Bokhoven H, Deen PM, Hennekam RC, Lindeman R, Schenck A, Roscioli T, Buckley MF. Cliffe ST, et al. Among authors: buckley mf. Hum Mol Genet. 2009 Jun 15;18(12):2257-65. doi: 10.1093/hmg/ddp161. Epub 2009 Mar 31. Hum Mol Genet. 2009. PMID: 19336477
Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study.
James PA, Culling B, Mullan G, Jenkins M, Elakis G, Turner AM, Mowat DM, Wilson M, Anderson P, Savarirayan R, Cliffe ST, Caramins M, Buckley MF, Tucker K, Roscioli T. James PA, et al. Among authors: buckley mf. Genes Chromosomes Cancer. 2009 Jul;48(7):533-8. doi: 10.1002/gcc.20661. Genes Chromosomes Cancer. 2009. PMID: 19373776
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan.
Roscioli T, Kamsteeg EJ, Buysse K, Maystadt I, van Reeuwijk J, van den Elzen C, van Beusekom E, Riemersma M, Pfundt R, Vissers LE, Schraders M, Altunoglu U, Buckley MF, Brunner HG, Grisart B, Zhou H, Veltman JA, Gilissen C, Mancini GM, Delrée P, Willemsen MA, Ramadža DP, Chitayat D, Bennett C, Sheridan E, Peeters EA, Tan-Sindhunata GM, de Die-Smulders CE, Devriendt K, Kayserili H, El-Hashash OA, Stemple DL, Lefeber DJ, Lin YY, van Bokhoven H. Roscioli T, et al. Among authors: buckley mf. Nat Genet. 2012 May;44(5):581-5. doi: 10.1038/ng.2253. Nat Genet. 2012. PMID: 22522421 Free PMC article.
80 results