Found: 222
Select item for more details and to access through your institution.
Gene expression profiling in treatment-naive schizophrenia patients identifies abnormalities in biological pathways involving AKT1 that are corrected by antipsychotic medication.
- Published in:
- International Journal of Neuropsychopharmacology, 2013, v. 16, n. 7, p. 1483, doi. 10.1017/S1461145713000035
- By:
- Publication type:
- Article
Time-resolved proteomic profiling of cigarette smoke-induced experimental chronic obstructive pulmonary disease.
- Published in:
- Respirology, 2021, v. 26, n. 10, p. 960, doi. 10.1111/resp.14111
- By:
- Publication type:
- Article
A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 2, p. 70, doi. 10.1159/000484532
- By:
- Publication type:
- Article
Letter to the editor: blood processing and sample storage have negligible effects on methylation.
- Published in:
- 2018
- By:
- Publication type:
- Letter to the Editor
Differential methylation at MHC in CD4<sup>+</sup> T cells is associated with multiple sclerosis independently of HLA-DRB1.
- Published in:
- Clinical Epigenetics, 2017, v. 9, p. 1, doi. 10.1186/s13148-017-0371-1
- By:
- Publication type:
- Article
Next-generation sequencing reveals broad down-regulation of microRNAs in secondary progressive multiple sclerosis CD4+ T cells.
- Published in:
- Clinical Epigenetics, 2016, v. 8, p. 1, doi. 10.1186/s13148-016-0253-y
- By:
- Publication type:
- Article
Modifier genes and Lynch syndrome: some considerations.
- Published in:
- Hereditary Cancer in Clinical Practice, 2022, v. 20, n. 1, p. 1, doi. 10.1186/s13053-022-00240-2
- By:
- Publication type:
- Article
Correction: When is a mutation not a mutation: the case of the c.594-2A>C splice variant in a woman harbouring another BRCA1 mutation in trans.
- Published in:
- 2022
- By:
- Publication type:
- Correction Notice
Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report.
- Published in:
- Hereditary Cancer in Clinical Practice, 2019, v. 17, n. 1, p. N.PAG, doi. 10.1186/s13053-019-0127-3
- By:
- Publication type:
- Article
Colorectal carcinoma in the course of inflammatory bowel diseases.
- Published in:
- Hereditary Cancer in Clinical Practice, 2019, v. 17, n. 1, p. N.PAG, doi. 10.1186/s13053-019-0118-4
- By:
- Publication type:
- Article
CD36 – a plausible modifier of disease phenotype in familial adenomatous polyposis.
- Published in:
- Hereditary Cancer in Clinical Practice, 2018, v. 16, n. 1, p. N.PAG, doi. 10.1186/s13053-018-0096-y
- By:
- Publication type:
- Article
The potential role of miRNAs in therapy of breast and ovarian cancers associated with BRCA1 mutation.
- Published in:
- Hereditary Cancer in Clinical Practice, 2017, v. 15, p. 1, doi. 10.1186/s13053-017-0076-7
- By:
- Publication type:
- Article
Management of ovarian and endometrial cancers in women belonging to HNPCC carrier families: review of the literature and results of cancer risk assessment in Polish HNPCC families.
- Published in:
- Hereditary Cancer in Clinical Practice, 2015, v. 13, n. 1, p. 1, doi. 10.1186/s13053-015-0025-2
- By:
- Publication type:
- Article
When is a mutation not a mutation: the case of the c.594-2A>C splice variant in a woman harbouring another BRCA1 mutation in trans.
- Published in:
- Hereditary Cancer in Clinical Practice, 2016, v. 14, p. 1, doi. 10.1186/s13053-015-0045-y
- By:
- Publication type:
- Article
Thank you to all our manuscript reviewers in 2014.
- Published in:
- Hereditary Cancer in Clinical Practice, 2015, v. 13, n. 1, p. 1, doi. 10.1186/s13053-015-0029-y
- By:
- Publication type:
- Article
Management of ovarian and endometrial cancers in women belonging to HNPCC carrier families: review of the literature and results of cancer risk assessment in Polish HNPCC families.
- Published in:
- Hereditary Cancer in Clinical Practice, 2015, v. 13, n. 1, p. 39, doi. 10.1186/s13053-015-0025-2
- By:
- Publication type:
- Article
Expanding the genetic basis of copy number variation in familial breast cancer.
- Published in:
- Hereditary Cancer in Clinical Practice, 2014, v. 12, n. 1, p. 1, doi. 10.1186/1897-4287-12-15
- By:
- Publication type:
- Article
Dupuytren's disease and the risk of malignant neoplasms.
- Published in:
- Hereditary Cancer in Clinical Practice, 2014, v. 12, n. 1, p. 1, doi. 10.1186/1897-4287-12-6
- By:
- Publication type:
- Article
The importance of a large sample cohort for studies on modifier genes influencing disease severity in FAP patients.
- Published in:
- Hereditary Cancer in Clinical Practice, 2013, v. 11, n. 1, p. 1, doi. 10.1186/1897-4287-11-20
- By:
- Publication type:
- Article
DNA and RNA analyses in detection of genetic predisposition to cancer.
- Published in:
- Hereditary Cancer in Clinical Practice, 2012, v. 10, n. 11, p. 1, doi. 10.1186/1897-4287-10-17
- By:
- Publication type:
- Article
Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome.
- Published in:
- Clinical Genetics, 2017, v. 92, n. 4, p. 405, doi. 10.1111/cge.12994
- By:
- Publication type:
- Article
An updated mutation spectrum in an Australian series of PJS patients provides further evidence for only one gene locus.
- Published in:
- Clinical Genetics, 2006, v. 70, n. 5, p. 409, doi. 10.1111/j.1399-0004.2006.00704.x
- By:
- Publication type:
- Article
Detailed DNA methylation characterisation of phyllodes tumours identifies a signature of malignancy and distinguishes phyllodes from metaplastic breast carcinoma.
- Published in:
- Journal of Pathology, 2024, v. 262, n. 4, p. 480, doi. 10.1002/path.6250
- By:
- Publication type:
- Article
miRNAs and Other Epigenetic Changes as Biomarkers in Triple Negative Breast Cancer.
- Published in:
- International Journal of Molecular Sciences, 2015, v. 16, n. 12, p. 28347, doi. 10.3390/ijms161226090
- By:
- Publication type:
- Article
Understanding Xeroderma Pigmentosum Complementation Groups Using Gene Expression Profiling after UV-Light Exposure.
- Published in:
- International Journal of Molecular Sciences, 2015, v. 16, n. 7, p. 15985, doi. 10.3390/ijms160715985
- By:
- Publication type:
- Article
The intron 3 16 bp duplication polymorphism of p53 (rs17878362) is not associated with increased risk of developing triple-negative breast cancer.
- Published in:
- Breast Cancer Research & Treatment, 2019, v. 173, n. 3, p. 727, doi. 10.1007/s10549-018-5039-9
- By:
- Publication type:
- Article
Multi-tissue transcriptome-wide association study identifies eight candidate genes and tissue-specific gene expression underlying endometrial cancer susceptibility.
- Published in:
- Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-02745-3
- By:
- Publication type:
- Article
DNA methylation changes in CD4<sup>+</sup> T cells isolated from multiple sclerosis patients on dimethyl fumarate.
- Published in:
- Multiple Sclerosis Journal - Experimental, Translational & Clinical, 2018, v. 4, n. 3, p. 1, doi. 10.1177/2055217318787826
- By:
- Publication type:
- Article
Genetic association and causal inference converge on hyperglycaemia as a modifiable factor to improve lung function.
- Published in:
- eLife, 2021, p. 1, doi. 10.7554/eLife.63115
- By:
- Publication type:
- Article
Evaluation of Different Normalization and Analysis Procedures for Illumina Gene Expression Microarray Data Involving Small Changes.
- Published in:
- Microarrays (2076-3905), 2013, v. 2, n. 2, p. 131, doi. 10.3390/microarrays2020131
- By:
- Publication type:
- Article
Endocannabinoid System as a Promising Therapeutic Target in Inflammatory Bowel Disease – A Systematic Review.
- Published in:
- Frontiers in Immunology, 2021, v. 12, p. 1, doi. 10.3389/fimmu.2021.790803
- By:
- Publication type:
- Article
Human Genetics Society of Australasia Position Statement: Use of Polygenic Scores in Clinical Practice and Population Health.
- Published in:
- Twin Research & Human Genetics, 2023, v. 26, n. 1, p. 40, doi. 10.1017/thg.2023.10
- By:
- Publication type:
- Article
Genetic burden associated with varying degrees of disease severity in endometriosis.
- Published in:
- Molecular Human Reproduction, 2015, v. 21, n. 7, p. 594, doi. 10.1093/molehr/gav021
- By:
- Publication type:
- Article
Disease expression in Swiss hereditary non-polyposis colorectal cancer (HNPCC) kindreds.
- Published in:
- International Journal of Cancer, 1997, v. 74, n. 3, p. 281, doi. 10.1002/(SICI)1097-0215(19970620)74:3<281::AID-IJC8>3.0.CO;2-V
- By:
- Publication type:
- Article
Ethnic Diversity of DPD Activity and the DPYD Gene: Review of the Literature.
- Published in:
- Pharmacogenomics & Personalized Medicine, 2021, v. 14, p. 1603, doi. 10.2147/PGPM.S337147
- By:
- Publication type:
- Article
Prevalence of clinically actionable genotypes and medication exposure of older adults in the community.
- Published in:
- Pharmacogenomics & Personalized Medicine, 2017, v. 10, p. 17, doi. 10.2147/PGPM.S123719
- By:
- Publication type:
- Article
A novel polymorphic repeat in the upstream regulatory region of the estrogen-induced gene EIG121 is not associated with the risk of developing breast or endometrial cancer.
- Published in:
- BMC Research Notes, 2016, v. 9, p. 1, doi. 10.1186/s13104-016-2086-3
- By:
- Publication type:
- Article
Genome-wide significant results identified for plasma apolipoprotein h levels.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2014, v. 10, p. P788, doi. 10.1016/j.jalz.2014.05.1526
- By:
- Publication type:
- Article
Microarray analysis of brain expression changes for genes relating to Alzheimer's disease and other neurodegenerative disorders in mouse models of iron overload
- Published in:
- 2010
- By:
- Publication type:
- Abstract
Genome-wide association meta-analysis identifies new endometriosis risk loci.
- Published in:
- Nature Genetics, 2012, v. 44, n. 12, p. 1355, doi. 10.1038/ng.2445
- By:
- Publication type:
- Article
Lack of support for association between the KIF1B rs10492972[C] variant and multiple sclerosis.
- Published in:
- 2010
- By:
- Publication type:
- Letter
Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20.
- Published in:
- Nature Genetics, 2009, v. 41, n. 7, p. 824, doi. 10.1038/ng.396
- By:
- Publication type:
- Article
KRAS mutation testing of metastatic colorectal cancer in Australia: Where are we at?
- Published in:
- Asia Pacific Journal of Clinical Oncology, 2014, v. 10, n. 3, p. 261, doi. 10.1111/ajco.12201
- By:
- Publication type:
- Article
Detecting Genotyping Error Using Measures of Degree of Hardy-Weinberg Disequilibrium.
- Published in:
- Statistical Applications in Genetics & Molecular Biology, 2010, v. 9, n. 1, p. 1, doi. 10.2202/1544-6115.1463
- By:
- Publication type:
- Article
DNA methylation profile of triple negative breast cancer-specific genes comparing lymph node positive patients to lymph node negative patients.
- Published in:
- Scientific Reports, 2016, p. 33435, doi. 10.1038/srep33435
- By:
- Publication type:
- Article
Genome-wide significant results identified for plasma apolipoprotein H levels in middle-aged and older adults.
- Published in:
- Scientific Reports, 2016, p. 23675, doi. 10.1038/srep23675
- By:
- Publication type:
- Article
Novel genes associated with lymph node metastasis in triple negative breast cancer.
- Published in:
- Scientific Reports, 2015, p. 15832, doi. 10.1038/srep15832
- By:
- Publication type:
- Article
Reevaluation of the BRCA2 truncating allele c.9976A >T (p.Lys3326Ter) in a familial breast cancer context.
- Published in:
- Scientific Reports, 2015, p. 1, doi. 10.1038/srep14800
- By:
- Publication type:
- Article
The prevalence of unique SNPs in the renin-angiotensin system highlights the need for pharmacogenetics in Indigenous Australians.
- Published in:
- Clinical & Experimental Pharmacology & Physiology, 2016, v. 43, n. 2, p. 157, doi. 10.1111/1440-1681.12525
- By:
- Publication type:
- Article
Common genetic variants in the plasminogen activation pathway are not associated with multiple sclerosis.
- Published in:
- Multiple Sclerosis Journal, 2014, v. 20, n. 4, p. 489, doi. 10.1177/1352458513498127
- By:
- Publication type:
- Article