Zobrazeno 1 - 10 of 23 pro vyhledávání: '"Tania, Tabone"'
1
Mutational Analysis of BRAF Inhibitor–Associated Squamoproliferative Lesions
Autor: Nathan T. Harvey, Michael Millward, Benjamin A. Wood, Britt Clynick, Tania Tabone, Katie Meehan, Wendy N. Erber, Kathryn A. Fuller
Publikováno v: The Journal of Molecular Diagnostics. 17:644-651
In recent years, there has been increasing use of BRAF-inhibiting drugs for the treatment of various malignancies, including melanoma. However, these agents are associated with the development of other nonmelanoma skin lesions, in particular squamopr
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b9efeb1c5ac35077f7375da59e1fb5b
https://doi.org/10.1016/j.jmoldx.2015.05.009
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2
Circumscribed sebaceous neoplasms: a morphological, immunohistochemical and molecular analysis
Autor: Tania Tabone, Benjamin A. Wood, Nathan T. Harvey, Wendy N. Erber
Publikováno v: Pathology. 48(5)
Sebaceous neoplasms encompass a range of lesions, including benign entities such as sebaceous adenoma and sebaceoma, as well as sebaceous carcinoma. The distinction of sebaceous carcinoma from benign lesions relies on histological identification of a
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bc49a12165675da87bc7c28e32445e3
https://pubmed.ncbi.nlm.nih.gov/27311873
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4
The R229Q mutation in NPHS2 may predispose to proteinuria in thin-basement-membrane nephropathy
Autor: Diane Wilson, Yan Yan Wang, Tania Tabone, Richard G.H. Cotton, Stephen Tonna, Lin Rigby, Judy Savige
Publikováno v: Pediatric Nephrology. 23:2201-2207
Thin-basement-membrane nephropathy (TBMN) is characterized by persistent dysmorphic hematuria, and the presence of proteinuria is a risk factor for renal impairment. TBMN is often due to mutations in the COL4A3 and COL4A4 genes, and this study determ
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d510dbb7f802da040ec5ec225fe432dd
https://doi.org/10.1007/s00467-008-0934-7
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5
Mutations, structural variations, and genome-wide resequencing: where to from here in our understanding of disease and evolution?
Autor: Tania Tabone
Publikováno v: Human Mutation. 29:886-890
The 9th International Symposium on Mutations in the Genome, Mutation Detection 2007, was held on 23–27 September 2007 in Xiamen, China. Meeting participants reported on a broad range of advances in mutation detection technologies and their applicat
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e1c989fa4f9f7441531fd21a1da020ce
https://doi.org/10.1002/humu.20781
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6
Somatic mutations in glioblastoma are associated with methylguanine-DNA methyltransferase methylation
Autor: Tania Tabone, Anna K. Nowak, Kerrie L. McDonald, Wendy N. Erber
The high level of methylguanine-DNA methyltransferase (MGMT) in glioblastoma is responsible for resistance to alkylating agents, such as temozolomide (TMZ). In glioblastomas with a methylated MGMT promoter, MGMT deficiency is presumed, resulting in a
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f2dca962aedd35497568cb63f109bb6
https://europepmc.org/articles/PMC4467216/
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7
Definition of polymorphisms in the gene encoding the interleukin-12 receptor B1 subunit: testing linkage disequilibrium with Type I diabetes susceptibility
Autor: Tania Tabone, Grant Morahan
Publikováno v: Genes & Immunity. 4:222-227
The cytokine interleukin (IL)-12 is bound by a heterodimeric receptor and mediates a range of immunological activities, in particular, favouring the development of uncommitted T cells to the Th1 phenotype. Genes encoding elements of the IL-12 pathway
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9ec7e7f0744b95480a28fc7471621ec
https://doi.org/10.1038/sj.gene.6363948
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9
Multigene profiling to identify alternative treatment options for glioblastoma: a pilot study
Autor: Australian Genomics, Anna K. Nowak, Hazem J. Abuhusain, Tania Tabone, Kerrie L. McDonald, Wendy N. Erber
Publikováno v: Journal of clinical pathology. 67(7)
Glioblastoma (GBM) is a highly aggressive malignancy and the most effective treatment regime has a high relapse rate. Increasingly, the development of therapies involves defining drug–diagnostic combinations where the presence of a molecular target
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9cd7a1ab07290b56edb6f1449e4bb0d
https://pubmed.ncbi.nlm.nih.gov/24695838
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10
High-resolution melt PCR analysis for genotyping of Ureaplasma parvum isolates directly from clinical samples
Autor: John P. Newnham, Tania Tabone, O. Brad Spiller, Matthew W. Kemp, Matthew S. Payne, Jeffrey A. Keelan
Publikováno v: Journal of clinical microbiology. 52(2)
Ureaplasma sp. infection in neonates and adults underlies a variety of disease pathologies. Of the two human Ureaplasma spp., Ureaplasma parvum is clinically the most common. We have developed a high-resolution melt (HRM) PCR assay for the differenti
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61ab8172fb51112b3d000ef4a034ead1
https://pubmed.ncbi.nlm.nih.gov/24478494
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