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Urinary TIMP-2*IGFBP-7 to diagnose acute kidney injury in children receiving cisplatin.
- Published in:
- Pediatric Nephrology, 2024, v. 39, n. 1, p. 269, doi. 10.1007/s00467-023-06007-8
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- Publication type:
- Article
Acute kidney injury during cisplatin therapy and associations with kidney outcomes 2 to 6 months post-cisplatin in children: a multi-centre, prospective observational study.
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 5, p. 1667, doi. 10.1007/s00467-022-05745-5
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- Publication type:
- Article
Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects.
- Published in:
- Neurogenetics, 2021, v. 22, n. 4, p. 251, doi. 10.1007/s10048-021-00652-7
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- Publication type:
- Article
Pharmacogenetic testing to guide therapeutic decision‐making and improve outcomes for children undergoing anthracycline‐based chemotherapy.
- Published in:
- Basic & Clinical Pharmacology & Toxicology, 2022, v. 130, p. 95, doi. 10.1111/bcpt.13593
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- Publication type:
- Article
A cross-sectional study of the relationship between CYP2D6 and CYP2C19 variations and depression symptoms, for women taking SSRIs during pregnancy.
- Published in:
- Archives of Women's Mental Health, 2022, v. 25, n. 2, p. 355, doi. 10.1007/s00737-021-01149-w
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- Publication type:
- Article
RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1301, doi. 10.1038/ejhg.2014.293
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- Publication type:
- Article
The <i>Salmonella</i> Type III Effector SspH2 Specifically Exploits the NLR Co-chaperone Activity of SGT1 to Subvert Immunity.
- Published in:
- PLoS Pathogens, 2013, v. 9, n. 7, p. 1, doi. 10.1371/journal.ppat.1003518
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- Publication type:
- Article
Pharmacogenomic testing: Enhancing personalized medication use for patients.
- Published in:
- 2020
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- Publication type:
- journal article
Development of a cost-efficient novel method for rapid, concurrent genotyping of five common single nucleotide polymorphisms of the brain derived neurotrophic factor (BDNF) gene by tetra-primer amplification refractory mutation system.
- Published in:
- International Journal of Methods in Psychiatric Research, 2015, v. 24, n. 3, p. 235, doi. 10.1002/mpr.1475
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- Publication type:
- Article
Patient‐specific genetic factors predict treatment failure in sofosbuvir‐treated patients with chronic hepatitis C.
- Published in:
- Liver International, 2022, v. 42, n. 4, p. 796, doi. 10.1111/liv.15175
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- Publication type:
- Article
Design and Methods of the Pan-Canadian Applying Biomarkers to Minimize Long-Term Effects of Childhood/Adolescent Cancer Treatment (ABLE) Nephrotoxicity Study: A Prospective Observational Cohort Study.
- Published in:
- Canadian Journal of Kidney Health & Disease, 2017, p. 1, doi. 10.1177/2054358117690338
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- Publication type:
- Article
Implementation of pharmacogenetic testing in oncology: DPYD-guided dosing to prevent fluoropyrimidine toxicity in British Columbia.
- Published in:
- Frontiers in Pharmacology, 2023, p. 1, doi. 10.3389/fphar.2023.1257745
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- Publication type:
- Article
Use of pharmacogenomics in pediatric renal transplant recipients.
- Published in:
- Frontiers in Genetics, 2015, v. 6, p. 1, doi. 10.3389/fgene.2015.00041
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- Publication type:
- Article
Outcome Definition Influences the Relationship between Genetic Polymorphisms of ERCC1, ERCC2, SLC22A2 and Cisplatin Nephrotoxicity in Adult Testicular Cancer Patients.
- Published in:
- Genes, 2019, v. 10, n. 5, p. 364, doi. 10.3390/genes10050364
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- Publication type:
- Article
HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 5, p. 561, doi. 10.1038/ejhg.2010.229
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- Publication type:
- Article
A coding variant in RARG confers susceptibility to anthracycline-induced cardiotoxicity in childhood cancer.
- Published in:
- Nature Genetics, 2015, v. 47, n. 9, p. 1079, doi. 10.1038/ng.3374
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- Publication type:
- Article
Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy.
- Published in:
- Nature Genetics, 2013, v. 45, n. 5, p. 578, doi. 10.1038/ng.0513-578
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- Publication type:
- Article
Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy.
- Published in:
- Nature Genetics, 2009, v. 41, n. 12, p. 1345, doi. 10.1038/ng.478
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- Publication type:
- Article
CYP2D6 as a treatment decision aid for ER-positive non-metastatic breast cancer patients: a systematic review with accompanying clinical practice guidelines.
- Published in:
- Breast Cancer Research & Treatment, 2019, v. 173, n. 3, p. 521, doi. 10.1007/s10549-018-5027-0
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- Publication type:
- Article
907. Gene Therapy for Genetic Lipoprotein Lipase (LPL) Deficiency; an Update
- Published in:
- 2005
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- Publication type:
- Abstract
Association Between HLA–DPB1 and Antineutrophil Cytoplasmic Antibody–Associated Vasculitis in Children.
- Published in:
- Arthritis & Rheumatology, 2023, v. 75, n. 6, p. 1048, doi. 10.1002/art.42423
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- Publication type:
- Article
Identification of Novel Adenosine Deaminase 2 Gene Variants and Varied Clinical Phenotype in Pediatric Vasculitis.
- Published in:
- Arthritis & Rheumatology, 2019, v. 71, n. 10, p. 1747, doi. 10.1002/art.40913
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- Publication type:
- Article
Apnea and Oxygen Desaturations in Children Treated with Opioids after Adenotonsillectomy for Obstructive Sleep Apnea Syndrome: A Prospective Pilot Study.
- Published in:
- Pediatric Drugs, 2012, v. 14, n. 6, p. 411, doi. 10.2165/11633570-000000000-00000
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- Publication type:
- Article
The Role of Pharmacogenomics in Rare Diseases.
- Published in:
- Drug Safety, 2024, v. 47, n. 6, p. 521, doi. 10.1007/s40264-024-01416-6
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- Publication type:
- Article
Cellular metabolism constrains innate immune responses in early human ontogeny.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-07215-9
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- Publication type:
- Article
All-trans retinoic acid (ATRA) regulates key genes in the RARG-TOP2B pathway and reduces anthracycline-induced cardiotoxicity.
- Published in:
- PLoS ONE, 2022, v. 17, n. 11, p. 1, doi. 10.1371/journal.pone.0276541
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- Publication type:
- Article
HUME: large-scale detection of causal genetic factors of adverse drug reactions.
- Published in:
- Bioinformatics, 2018, v. 34, n. 24, p. 4274, doi. 10.1093/bioinformatics/bty475
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- Publication type:
- Article
Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy.
- Published in:
- Child Neurology Open, 2016, v. 3, p. 1, doi. 10.1177/2329048X16669912
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- Publication type:
- Article
Amelioration of Hypertriglyceridemia with Hypo-Alpha- Cholesterolemia in LPL Deficient Mice by Hematopoietic Cell-Derived LPL.
- Published in:
- PLoS ONE, 2011, v. 6, n. 9, p. 1, doi. 10.1371/journal.pone.0025620
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- Publication type:
- Article
The cumulative incidence of cisplatin‐induced hearing loss in young children is higher and develops at an early stage during therapy compared with older children based on 2052 audiological assessments.
- Published in:
- Cancer (0008543X), 2022, v. 128, n. 1, p. 169, doi. 10.1002/cncr.33848
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- Publication type:
- Article
VKORC1 and CYP2C9 genotypes are predictors of warfarin-related outcomes in children.
- Published in:
- Pediatric Blood & Cancer, 2014, v. 61, n. 6, p. 1055, doi. 10.1002/pbc.24932
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- Publication type:
- Article
Forensic Investigation of Methadone Concentrations in Deceased Breastfed Infants.
- Published in:
- Journal of Forensic Sciences, 2016, v. 61, n. 2, p. 576, doi. 10.1111/1556-4029.12972
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- Publication type:
- Article
Analyses of Adverse Drug Reactions–Nationwide Active Surveillance Network: Canadian Pharmacogenomics Network for Drug Safety Database.
- Published in:
- Journal of Clinical Pharmacology, 2019, v. 59, n. 3, p. 356, doi. 10.1002/jcph.1336
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- Publication type:
- Article
Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease.
- Published in:
- 2017
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- Publication type:
- journal article
Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0248-3
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- Publication type:
- Article
The genotypic and phenotypic spectrum of PIGA deficiency.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0243-8
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- Publication type:
- Article
Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Single Point Mutation in Rabenosyn-5 in a Female with Intractable Seizures and Evidence of Defective Endocytotic Trafficking.
- Published in:
- 2014
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- Publication type:
- Case Study
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-15
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- Publication type:
- Article
Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Epidemiologic Characteristics of Acute Kidney Injury During Cisplatin Infusions in Children Treated for Cancer.
- Published in:
- JAMA Network Open, 2020, v. 3, n. 5, p. e203639, doi. 10.1001/jamanetworkopen.2020.3639
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- Publication type:
- Article
Transcriptome-wide association study uncovers the role of essential genes in anthracycline-induced cardiotoxicity.
- Published in:
- NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00199-4
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- Publication type:
- Article
Pharmacogenomic screening for anthracycline-induced cardiotoxicity in childhood cancer.
- Published in:
- British Journal of Clinical Pharmacology, 2017, v. 83, n. 5, p. 1143, doi. 10.1111/bcp.13218
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- Publication type:
- Article
Recommendations for genetic testing to reduce the incidence of anthracycline-induced cardiotoxicity.
- Published in:
- British Journal of Clinical Pharmacology, 2016, v. 82, n. 3, p. 683, doi. 10.1111/bcp.13008
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- Publication type:
- Article
A pharmacogenetic signature of high response to Copaxone in late-phase clinical-trial cohorts of multiple sclerosis.
- Published in:
- Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0436-y
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- Publication type:
- Article
Pharmacogenomic Variability of Oral Baclofen Clearance and Clinical Response in Children With Cerebral Palsy.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Pharmacogenetic variants in TPMT alter cellular responses to cisplatin in inner ear cell lines.
- Published in:
- PLoS ONE, 2017, v. 12, n. 4, p. 1, doi. 10.1371/journal.pone.0175711
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- Publication type:
- Article
Promoting Neuroplasticity for Motor Rehabilitation After Stroke: Considering the Effects of Aerobic Exercise and Genetic Variation on Brain-Derived Neurotrophic Factor.
- Published in:
- Physical Therapy, 2013, v. 93, n. 12, p. 1707, doi. 10.2522/ptj.20130053
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- Publication type:
- Article
A systematic review of the effects of CYP2D6 phenotypes on risperidone treatment in children and adolescents.
- Published in:
- Child & Adolescent Psychiatry & Mental Health, 2018, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13034-018-0243-2
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- Publication type:
- Article
Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in DPYD spanning intron 8 to intron 12.
- Published in:
- Human Mutation, 2018, v. 39, n. 7, p. 947, doi. 10.1002/humu.23538
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- Publication type:
- Article