Results 141 to 150 of about 127,509 (268)

Prenatal Diagnosis of Short Rib-Polydactyly Syndrome (SRPS), <i>DYNC2I1</i>-Related: Identification of a Novel Homozygous Missense Variant by Clinical Exome Sequencing. [PDF]

Clin Case Rep
Xian S, Zhao Q, Li Y, Li L, Li Z, Zhang M, Feng S, Zhao Q.   +7 more
europepmc   +1 more source

Exomes for we but not for thee

Applied & Translational Genomics, 2016
openaire   +2 more sources

Precision medicine in paediatrics: Progress and priorities

British Journal of Clinical Pharmacology, EarlyView.
Precision medicine is revolutionizing personalized healthcare, advancing both diagnostics and therapeutics at an unprecedented pace. Reviewing the paediatric applications of pharmacometrics, pharmacogenomics and advanced therapy medicinal products highlights not only the relevance of these exciting innovations to frontline care but also the significant
Nicola Husain, Claire Booth, Joseph F. Standing, Charlotte I. S. Barker   +3 more
wiley   +1 more source

Pharmacogenomics of dolutegravir: A scoping review of evidence, gaps and clinical implications

British Journal of Clinical Pharmacology, EarlyView.
Dolutegravir underpins modern first‐ and second‐line HIV treatment regimens; however, interindividual variability in its disposition and tolerability presents challenges for optimal use. This scoping review mapped current evidence on the pharmacogenomics of dolutegravir, focusing on pharmacokinetics and pharmacodynamics, and methodological limitations ...
Ronald Kiguba, Mishael Ssesanga, Munir Pirmohamed   +2 more
wiley   +1 more source

Diagnostic efficiency of whole exome sequencing in the search for genetic causes of hereditary diseases in Yugra (West Siberia, Russia). [PDF]

Vavilovskii Zhurnal Genet Selektsii
Donnikov MY, Suchko PA, Morozkina AV, Kolbasin LN, Popova EA, Papanov SI, Koshevaya YS, Danilov LG, Eismont YA, Glotov OS, Kovalenko LV.   +10 more
europepmc   +1 more source

Genomic Insights Into Risperidone Treatment Outcomes in Children and Adolescents: Experience From a Psychiatric Hospital Serving Rural Youth

Clinical Pharmacology &Therapeutics, EarlyView.
Risperidone is a commonly used antipsychotic for treating psychiatric illness in children and adolescents. There is a large variability in risperidone response and discontinuation rates remain high. Pharmacogenomics offers the opportunity to improve risperidone outcomes, yet studies in pediatric populations are limited.
Jack W. Staples, Shayna R. Killam, Karen E. Brown, Rachel Dalton, Elizabeth Sather, Qiang Chen, Joshua Loveland, Corbin Schwanke, Abdallah F. Elias, Kristin L. Bigos, Erica L. Woodahl   +10 more
wiley   +1 more source

Cold Agglutinin Disease-Like Genetic Signatures in Lymphoplasmacytic Lymphoma-Like Cases Challenge the WHO Fifth Edition Classification. [PDF]

EJHaem
Sato Y, Koyama D, Yamada S, Suzuki K, Fukatsu M, Oka Y, Hashimoto Y, Ikezoe T.   +7 more
europepmc   +1 more source

Identification of a Functional CYP2C8 Variant Allele that Alters Splicing, Reduces Protein Expression, and Increases Drug Exposure

Clinical Pharmacology &Therapeutics, EarlyView.
This study investigated genetic determinants of the pharmacokinetics of the CYP2C8 index drugs repaglinide and gemfibrozil, and their interaction in healthy participants. Sequencing data from a study with montelukast revealed a novel functional CYP2C8 allele (rs2071426, CYP2C8*19), predicted to create an intronic splice donor site.
Anssi J. H. Mykkänen, Päivi Hirvensalo, Kathrin Klein, Dorota Kaminska, Markus Grube, Tuija Tapaninen, Johanna I. Kiiski, Mikko Neuvonen, Ville T. Männistö, Jussi Pihlajamäki, Mladen Tzvetkov, Matthias Schwab, Aleksi Tornio, Janne T. Backman, Mikko Niemi   +14 more
wiley   +1 more source

A Missing Genomic Dimension: The Small but Central Mitochondrial Genome in Diabetic Kidney Disease Genetics. [PDF]

Kidney Int Rep
Ural Z.
europepmc   +1 more source

UMOD Genotype and Clinical Outcomes in Heart Failure Patients Treated with Loop Diuretics: A UK Biobank Pharmacogenetic Cohort Study

Clinical Pharmacology &Therapeutics, EarlyView.
Uromodulin (UMOD) regulates tubular sodium handling and modulates NKCC2, the molecular target of loop diuretics (LD). Although UMOD variants have been associated with blood pressure and hypertension, their pharmacogenetic relevance in heart failure (HF) remains unknown.
Reinhold Kreutz, Pimrapat Gebert, Jingwen Luo, Paraskevi Tassopoulou, Juliane Bolbrinker, Antonios Douros   +5 more
wiley   +1 more source