Breast cancer risk is not increased in individuals withTWIST1mutation confirmed Saethre-Chotzen syndrome: An Australian multicenter study

Autor: Simon T. Cliffe, George Elakis, Meredith Wilson, Bronwyn Culling, Michael F. Buckley, Paul A. James, David M. Mowat, Melody Caramins, Peter J. Anderson, Mark A. Jenkins, Tony Roscioli, Ravi Savarirayan, Glenda L. Mullan, Anne M. Turner, Katherine L. Tucker

Publikováno v: Genes, Chromosomes & Cancer, 48, 7, pp. 533-8
Genes, Chromosomes & Cancer, 48, 533-8

Contains fulltext : 79485.pdf (Publisher’s version ) (Closed access) Saethre-Chotzen syndrome (SCS) is a rare autosomal dominant syndrome involving craniosynostosis, craniofacial abnormalities, and syndactyly. A recent Scandinavian study reported a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c598feddb73e1d3083f1e07bc432621
https://doi.org/10.1002/gcc.20661

Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease

Autor: Edwin P. Kirk, Maria Sarris, Christopher G. Bell, Robert Lindeman, Tony Roscioli, Peter J. Taylor, Jennifer A. Donald, George B. McDonald, Simon T. Cliffe, Michael F. Buckley, Daniel Bloch, Joanne Wang, John B. Ziegler, Melanie Wong, Glenda L. Mullan, Ulrich Salzer

Publikováno v: Nature Genetics. 38:620-622

We describe mutations in the PML nuclear body protein Sp110 in the syndrome veno-occlusive disease with immunodeficiency, an autosomal recessive disorder of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56988230683ed45c0b9be1f035e74780
https://doi.org/10.1038/ng1780

Hepatic veno-occlusive disease with immunodeficiency (VODI): first reported case in the U.S. and identification of a unique mutation in Sp110

Autor: Simon T. Cliffe, Tiffany Wang, Joseph A. Church, Tony Roscioli, Peck Y. Ong

Publikováno v: Clinical immunology (Orlando, Fla.). 145(2)

Familial hepatic veno-occlusive disease with immunodeficiency (VODI, OMIM: 235550), a rare form of severe combined immune deficiency, was first described in Australian Lebanese patients as being associated with homozygous mutations in SP110, a gene e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::707cd3da45e8df8144486ca05e904880
https://pubmed.ncbi.nlm.nih.gov/22982295

SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway

Autor: Raja Padidela, Eiko K. de Jong, Erik-Jan Kamsteeg, Chela James, Robert Lindeman, Peter M.T. Deen, Khalid Hussain, Hans van Bokhoven, Raoul C.M. Hennekam, Arjan P.M. de Brouwer, Melanie Wong, Joris H. Robben, Jamie M. Kramer, Esther A. R. Nibbeling, Michael F. Buckley, Julie S. Prendiville, Charlie Becknell, Annette Schenck, Simon T. Cliffe, Tony Roscioli

Publikováno v: Human Molecular Genetics, 18, 12, pp. 2257-65
Human molecular genetics, 18(12), 2257-2265. Oxford University Press
Human Molecular Genetics, 18, 2257-65

Contains fulltext : 81613.pdf (Publisher’s version ) (Closed access) Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome is a recently described autosomal recessive disorder associated with predominantly antibody neg

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d1434b4d2d58e23aef32e408a5df5b2
https://hdl.handle.net/2066/81613

F.56. Veno-occlusive Disease with Immunodeficiency (VODI): First Reported Case in the U.S. and Identification of a Unique Mutation in the Gene Encoding a PML Nuclear Body Protein, SP110

Autor: Tiffany Wang, Peck Y. Ong, Michael F. Buckley, Robert Lindeman, Simon T. Cliffe, Joseph A. Church, Tony Roscioli

Publikováno v: Clinical Immunology. 127:S61

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7a49d59f66fb2872aef91abc9740a96b
https://doi.org/10.1016/j.clim.2008.03.168