Results 41 to 50 of about 1,216,010 (297)
Heliyon, 2017 Methotrexate (MTX) is the most used drug in rheumatoid arthritis (RA) treatment. However, it shows variability in clinical response, which is explained by an association with genetic polymorphisms.
Lilya M. Berkani +5 more
doaj +1 more source
Genetic risk model for in-stent restenosis of second-and third-generation drug-eluting stents
iScience, 2021 Summary: The new generation, i.e., second- and third-generation, drug-eluting stents (DESs) remain a risk of in-stent restenosis (ISR). We evaluated the power of a genetic risk score (GRS) model to identify high-risk populations for new generation DES ...
Yen-Wen Liu +11 more
doaj +1 more source
Clinical molecular genetics in the UK c.1975-c.2000 [PDF]
, 2014 seminar transcriptChaired by Professor Martin Bobrow and introduced by Professor Bob Williamson, this Witness Seminar included geneticists from a broad range of research and clinical specialities.
Jones, EM, Tansey, EM
core
Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis [PDF]
, 2010 Phospholipase associated neurodegeneration (PLAN) comprises a heterogeneous group of autosomal recessive neurological disorders caused by mutations in the PLA2G6 gene. Direct gene sequencing detects 85% mutations in infantile neuroaxonal dystrophy.
Brady, Angela F +14 more
core +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Purpose Retinoblastoma (RB) is the most common pediatric ocular cancer, yet population‐based data on survival and risk factors remain limited. This study aimed to describe survival in a large national RB cohort and identify predictors of death and complications.
Samuel Sassine +14 more
wiley +1 more source
Widening the spectrum of players affected by genetic changes in Wilms tumor relapse
iScienceSummary: Few studies investigated the genetics of relapsed Wilms tumor (WT), suggesting the SIX1 gene, the microRNA processing genes, and the MYCN network as possibly involved in a relevant percentage of relapses. We investigated 28 relapsing WT patients
Sara Ciceri +16 more
doaj +1 more source
Alzheimer\u27s Disease and Down\u27s Syndrome: An Overview [PDF]
, 2011 The association between Alzheimer\u27s Disease and Down\u27s Syndrome is well recognized through clinical observations and genetic studies. However, the exact nature and the implications of this link is far from clear as yet.
Desai, M.B.B.S., Dr.Devanshu
core +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Objective To evaluate selumetinib exposure using therapeutic drug monitoring (TDM) in pediatric patients with neurofibromatosis type 1 (NF1) and plexiform neurofibromas (PN), assess interpatient pharmacokinetic variability, and explore the relationship between drug exposure, clinical response, and adverse effects.
Janka Kovács +8 more
wiley +1 more source
The Application of Clinical Genetics
The Application of Clinical Genetics, 2012 Martin H MaurerDepartment of Physiology and Pathophysiology, University of Heidelberg, Heidelberg, Germany; Mariaberg Hospital for Child and Adolescent Psychiatry, Gammertingen, GermanyIn 2012, The Application of Clinical Genetics enters its fifth year ...
Maurer MH
doaj
Gene expression of non-homologous end-joining pathways in the prognosis of ovarian cancer
iScience, 2023 Summary: Ovarian cancer is the deadliest gynecologic malignancy in women, with a 46% five-year overall survival rate. The objective of the study was to investigate the effects of non-homologous end-joining (NHEJ) genes on clinical outcomes of ovarian ...
Ethan S. Lavi +2 more
doaj +1 more source