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Date: 2015
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.13/1331176
Description: Mutations in alpha- and beta-tubulins are increasingly recognized as a major cause of malformations of cortical development (MCD), typically lissencephaly, pachygyria and polymicrogyria; however, sequ... More
Reviewed: Reviewed
Date: 2013
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.13/1318899
Description: The causes of ageing remain poorly understood, although a role for mitochondria is widely accepted. These unique organelles that are responsible for a cell's energy, rely on their own small genome and... More
Reviewed: Reviewed
Date: 2012
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.13/1307523
Description: A mutation of a vertex-magic total labeling of a graph G is a swap of some set of edges incident on one vertex of G with some a set of edges incident with another vertex where the labels on the two se... More
Reviewed: Reviewed
Date: 2011
Keyword: BRCA1 | BRCA2 | genes | mutations
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.13/1041346
Description: Detection of mutations by DNA sequencing can be facilitated by scanning methods to identify amplicons which may have mutations. Current scanning methods used for the detection of germline sequence var... More
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Reviewed: Reviewed
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Date: 2011
Language: eng
Resource Type: conference paper
Identifier: http://hdl.handle.net/1959.13/1036337
Description: In this study, we have genotyped 192 cases of thick and/or metastatic melanoma, arising in a population exposed to a high degree of ambient UV radiation, and analysed the mutations in relation to the ... More
Date: 2010
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.13/928590
Description: Background: Approximately 10% of Lynch syndrome families have a mutation in MSH6 and fewer families have a mutation in PMS2. It is assumed that the cancer incidence is the same in families with mutati... More
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Reviewed: Reviewed
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Date: 2009
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.13/807467
Description: The collection of genetic variants that cause inherited disease (causative mutation) has occurred for decades albeit in an ad hoc way, for research and clinical purposes. More recently, the access to ... More
Reviewed: Reviewed
Date: 2009
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.13/925265
Description: Context: P450 oxidoreductase (POR) deficiency causes disordered steroidogenesis; severe mutations cause genital ambiguity in both sexes plus the Antley-Bixler skeletal malformation syndrome, whereas m... More
Reviewed: Reviewed
Date: 2009
Resource Type: journal article
Identifier: uon:7968
Description: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a potentially lethal inherited arrhythmia syndrome in which drug therapy is often ineffective. We discovered that flecainide prevents ar... More
Reviewed: Reviewed
Date: 2009
Resource Type: journal article
Identifier: uon:6851
Description: Hereditary non-polyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is an autosomal dominant inherited predisposition to a number of epithelial cancers, most notably colorectal and endom... More
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Reviewed: Reviewed
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Date: 2009
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.13/808876
Description: In this paper, we are studying vertex-magic total labelings of simple graphs. We introduce a procedure called mutation which transforms one labeling into another by swapping sets of edges among vertic... More
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Reviewed: Reviewed
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Date: 2008
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.13/43193
Description: Linkage analysis and DNA sequencing in a family exhibiting an X-linked mental retardation (XLMR) syndrome, characterized by microcephaly, epilepsy, ataxia, and absent speech and resembling Angelman sy... More
Reviewed: Reviewed
Date: 2005
Language: eng
Resource Type: journal article
Identifier: uon:130
Description: In vivo models that recapitulate oncogene-dependent tumorigenesis will greatly facilitate development of molecularly targeted anticancer therapies. We have developed a model based on activating mutati... More
Reviewed: Reviewed
Date: 2005
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.13/25048
Description: Very little is known about the chromosomal regions harbouring genes involved in initiation and progression of BRCAX-associated breast cancers. We applied comparative genomic hybridization (CGH) to ide... More
Reviewed: Reviewed
Date: 2005
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.13/25355
Description: Progenitor cells, termed oval cells, are involved in the pathogenesis of hepatocellular carcinoma (HCC) in animal models. By immunolabeling for c-kit and CD34 in human hepatitis B virus-associated cir... More
Reviewed: Reviewed