Expanding the clinical spectrum of SLC29A3 gene defects
Spiegel, Ronen, Cliffe, Simon T, Buckley, Michael F, Crow, Yanick J, Urquhart, Jill, Horovitz, Yoseph, Tenenbaum-Rakover, Yardena, Newman, William G, Donnai, Dian, Shalev, Stavit A
Published in European journal of medical genetics (01.09.2010)
Published in European journal of medical genetics (01.09.2010)
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Journal Article
Hepatic veno-occlusive disease with immunodeficiency (VODI): First reported case in the U.S. and identification of a unique mutation in Sp110
Wang, Tiffany, Ong, Peck, Roscioli, Tony, Cliffe, Simon T, Church, Joseph A
Published in Clinical immunology (Orlando, Fla.) (01.11.2012)
Published in Clinical immunology (Orlando, Fla.) (01.11.2012)
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SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway
Cliffe, Simon T., Kramer, Jamie M., Hussain, Khalid, Robben, Joris H., de Jong, Eiko K., de Brouwer, Arjan P., Nibbeling, Esther, Kamsteeg, Erik-Jan, Wong, Melanie, Prendiville, Julie, James, Chela, Padidela, Raja, Becknell, Charlie, van Bokhoven, Hans, Deen, Peter M.T., Hennekam, Raoul C.M., Lindeman, Robert, Schenck, Annette, Roscioli, Tony, Buckley, Michael F.
Published in Human molecular genetics (15.06.2009)
Published in Human molecular genetics (15.06.2009)
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Journal Article
Clinical, molecular, and cellular immunologic findings in patients with SP110 -associated veno-occlusive disease with immunodeficiency syndrome
Cliffe, Simon T., BSc(Hons), Bloch, Donald B., MD, PhD, Suryani, Santi, BSc(Hons), PhD, Kamsteeg, Erik-Jan, PhD, Avery, Danielle T., BAppSci, Palendira, Umaimainthan, BSc(Hons), PhD, Church, Joseph A., MD, Wainstein, Brynn K., MBBS, FRACP, Trizzino, Antonino, MD, Lefranc, Gérard, PhD, Akatcherian, Carlo, MD, Megarbané, André, MD, PhD, Gilissen, Christian, PhD, Moshous, Despina, MD, Reichenbach, Janine, MD, Misbah, Siraj, MD, Salzer, Uli, PhD, Abinun, Mario, FRCP, Ong, Peck Y., MD, Stepensky, Polina, MD, Ruga, Ezia, MD, Ziegler, John B., MD, FRACP, Wong, Melanie, MBBS, PhD, FRACP, Tangye, Stuart G., BSc(Hons), PhD, Lindeman, Robert, MBBS, PhD, FRACP, Buckley, Michael F., MBChB, PhD, FRCPA, FRCPath, Roscioli, Tony, MBBS, PhD, FRACP
Published in Journal of allergy and clinical immunology (01.09.2012)
Published in Journal of allergy and clinical immunology (01.09.2012)
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Journal Article
Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease
Roscioli, Tony, Cliffe, Simon T, Bloch, Donald B, Bell, Christopher G, Mullan, Glenda, Taylor, Peter J, Sarris, Maria, Wang, Joanne, Donald, Jennifer A, Kirk, Edwin P, Ziegler, John B, Salzer, Ulrich, McDonald, George B, Wong, Melanie, Lindeman, Robert, Buckley, Michael F
Published in Nature genetics (01.06.2006)
Published in Nature genetics (01.06.2006)
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The first prenatal diagnosis for veno-occlusive disease and immunodeficiency syndrome, an autosomal recessive condition associated with mutations in SP110
Cliffe, Simon T., Wong, Melanie, Taylor, Peter J., Ruga, Ezia, Wilcken, Bridget, Lindeman, Robert, Buckley, Michael F., Roscioli, Tony
Published in Prenatal diagnosis (01.07.2007)
Published in Prenatal diagnosis (01.07.2007)
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Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: An Australian multicenter study
James, Paul A., Culling, Bronwyn, Mullan, Glenda, Jenkins, Mark, Elakis, George, Turner, Anne M., Mowat, David M., Wilson, Meredith, Anderson, Peter, Savarirayan, Ravi, Cliffe, Simon T., Caramins, Melody, Buckley, Michael F., Tucker, Kathy, Roscioli, Tony
Published in Genes chromosomes & cancer (01.07.2009)
Published in Genes chromosomes & cancer (01.07.2009)
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Journal Article
Mutations in the SLC29A3 gene are not a common cause of isolated autoantibody negative type 1 diabetes
Edghill, Emma L, Hameed, Shihab, Verge, Charles F, Rubio-Cabezas, Oscar, Argente, Jesús, Sumnik, Zdenek, Dusatkova, Petra, Cliffe, Simon T, Hennekam, Raoul C M, Buckley, Michael F, Hussain, Khalid, Ellard, Sian, Attersley, Andrew T
Published in Journal of the Pancreas (06.07.2009)
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Published in Journal of the Pancreas (06.07.2009)
Journal Article
Clinical, molecular, and cellular immunologic findings in patients withSP110-associated veno-occlusive disease with immunodeficiency syndrome
Cliffe, Simon T, Bloch, Donald B, Suryani, Santi, Kamsteeg, Erik-Jan, Avery, Danielle T, Palendira, Umaimainthan, Church, Joseph A, Wainstein, Brynn K, Trizzino, Antonino, Lefranc, Gérard, Akatcherian, Carlo, Megarbané, André, Gilissen, Christian, Moshous, Despina, Reichenbach, Janine, Misbah, Siraj, Salzer, Uli, Abinun, Mario, Ong, Peck Y, Stepensky, Polina, Ruga, Ezia, Ziegler, John B, Wong, Melanie, Tangye, Stuart G, Lindeman, Robert, Buckley, Michael F, Roscioli, Tony
Published in Journal of allergy and clinical immunology (01.09.2012)
Published in Journal of allergy and clinical immunology (01.09.2012)
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Journal Article