Found: 29
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Heterozygosity of ALG9 in Association with Autosomal Dominant Polycystic Liver Disease.
- Published in:
- Genes, 2023, v. 14, n. 9, p. 1755, doi. 10.3390/genes14091755
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- Article
Novel α-1,3-Glucosyltransferase Variants and Their Broad Clinical Polycystic Liver Disease Spectrum.
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- Genes, 2023, v. 14, n. 8, p. 1652, doi. 10.3390/genes14081652
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- Article
The Antiseptic and Antineoplastic Agent Taurolidine Modulates Key Leukocyte Functions.
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- In Vivo, 2022, v. 36, n. 5, p. 2074, doi. 10.21873/invivo.12933
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- Article
Novel GANAB variants associated with polycystic liver disease.
- Published in:
- 2020
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- journal article
Contribution of Genetic and Clinical Risk Factors to Development of Candidemia in Patients Receiving Home Parenteral Nutrition.
- Published in:
- 2020
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- Publication type:
- journal article
Common variants in glyoxalase I do not increase chronic pancreatitis risk.
- Published in:
- PLoS ONE, 2019, v. 14, n. 10, p. 1, doi. 10.1371/journal.pone.0222927
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- Article
Liver cyst gene knockout in cholangiocytes inhibits cilium formation and Wnt signaling.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 21, p. 4190, doi. 10.1093/hmg/ddx308
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- Article
Severe Polycystic Liver Disease Is Not Caused by Large Deletions of the PRKCSH Gene.
- Published in:
- 2016
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- journal article
GST Theta null genotype is associated with an increased risk for ulcerative colitis: a case-control study and meta-analysis of GST Mu and GST Theta polymorphisms in inflammatory bowel disease.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 10, p. 575, doi. 10.1038/jhg.2014.77
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- Article
Genetic polymorphism 609C>T in NAD(P)H:quinone oxidoreductase 1 enhances the risk of proximal colon cancer.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 7, p. 381, doi. 10.1038/jhg.2014.38
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- Publication type:
- Article
Polymorphisms in the Insulin-Like Growth Factor Axis Are Associated with Gastrointestinal Cancer.
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- PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0090916
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- Article
Over-expression of COX-2 mRNA in colorectal cancer.
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- BMC Gastroenterology, 2014, v. 14, n. 1, p. 1, doi. 10.1186/1471-230X-14-1
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- Article
Duodenal mucosal risk markers in patients with familial adenomatous polyposis: effects of celecoxib/ursodeoxycholic acid co-treatment and comparison with patient controls.
- Published in:
- 2013
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- Publication type:
- journal article
No role for glutathione S-transferase genotypes in Caucasian esophageal squamous cell or adenocarcinoma etiology: an European case-control study.
- Published in:
- 2013
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- Publication type:
- journal article
Combined effect of genetic polymorphisms in phase I and II biotransformation enzymes on head and neck cancer risk.
- Published in:
- Head & Neck, 2013, v. 35, n. 6, p. 858, doi. 10.1002/hed.23054
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- Publication type:
- Article
Loss of Heterozygosity Is Present in SEC63 Germline Carriers with Polycystic Liver Disease.
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- PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0050324
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- Article
Functional profiles of SCN9A variants in dorsal root ganglion neurons and superior cervical ganglion neurons correlate with autonomic symptoms in small fibre neuropathy.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 9, p. 2613, doi. 10.1093/brain/aws187
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- Article
Infliximab exerts no direct hepatotoxic effect on HepG2 cells in vitro.
- Published in:
- 2012
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- Publication type:
- journal article
The Functional -- 765G→C Polymorphism of the COX-2 Gene May Reduce the Risk of Developing Crohn's Disease.
- Published in:
- PLoS ONE, 2010, v. 5, n. 11, p. 1, doi. 10.1371/journal.pone.0015011
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- Publication type:
- Article
Alternative splicing may contribute to time-dependent manifestation of inherited erythromelalgia.
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- Brain: A Journal of Neurology, 2010, v. 133, n. 6, p. 1823, doi. 10.1093/brain/awq114
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- Publication type:
- Article
Genetic polymorphisms in the tobacco smoke carcinogens detoxifying enzyme UGT1A7 and the risk of head and neck cancer.
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- Head & Neck, 2009, v. 31, n. 10, p. 1274, doi. 10.1002/hed.21090
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- Article
COX-2 polymorphisms and the risk for head and neck cancer in white patients.
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- Head & Neck, 2009, v. 31, n. 7, p. 938, doi. 10.1002/hed.21058
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- Article
Na<sub>V</sub>1.7 Gain-of-Function Mutations as a Continuum: A1632E Displays Physiological Changes Associated with Erythromelalgia and Paroxysmal Extreme Pain Disorder Mutations and Produces Symptoms of Both Disorders.
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- Journal of Neuroscience, 2008, v. 28, n. 43, p. 11079, doi. 10.1523/JNEUROSCI.3443-08.2008
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- Article
Microsomal epoxide hydrolase genotypes and the risk for head and neck cancer.
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- Head & Neck, 2008, v. 30, n. 7, p. 836, doi. 10.1002/hed.20781
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- Publication type:
- Article
Cysts of PRKCSH mutated polycystic liver disease patients lack hepatocystin but express Sec63p.
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- Histochemistry & Cell Biology, 2008, v. 129, n. 3, p. 301, doi. 10.1007/s00418-008-0381-3
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- Article
Compound heterozygosity in sodium channel Nav1.7 in a family with hereditary erythermalgia.
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- Molecular Pain, 2008, v. 4, n. 1, p. 1, doi. 10.1186/1744-8069-4-21
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- Publication type:
- Article
Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis.
- Published in:
- Nature Genetics, 2008, v. 40, n. 1, p. 78, doi. 10.1038/ng.2007.44
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- Publication type:
- Article
[<sup>18</sup>F]FDG accumulation in an experimental model of multistage progression of cholangiocarcinoma.
- Published in:
- Hepatology Research, 2007, v. 37, n. 2, p. 127, doi. 10.1111/j.1872-034X.2007.00016.x
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- Publication type:
- Article
SCN9A Mutations Define Primary Erythermalgia as a Neuropathic Disorder of Voltage Gated Sodium Channels.
- Published in:
- Journal of Investigative Dermatology, 2005, v. 124, n. 6, p. 1333, doi. 10.1111/j.0022-202X.2005.23737.x
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- Publication type:
- Article