Search
Now showing items 31-40 of 2912
Genetic Basis Of Hyperlysinemia
(2013)
Background Hyperlysinemia is an autosomal recessive inborn error of L-lysine degradation. To date only one causal mutation in the AASS gene encoding α-aminoadipic semialdehyde synthase has been reported. We aimed to better ...
Genetic Variations In Attention Deficit Hyperactivity Disorder Subtypes And Treatment Resistant Cases
(2016)
Objective ObjectiveaaWe evaluated the distribution of alpha-2A adrenergic receptor (ADRA2A) and catechol-o-methyltransferase (COMT) single nucleotide polymorphisms (SNPs) among ADHD subtypes and other homogeneous patient ...
Incidence, Risk Factors And Severity Of Retinopathy Of Prematurity In Turkey (Tr-Rop Study): A Prospective, Multicentre Study In 69 Neonatal Intensive Care Units
(Bmj Publishing Group, 2018)
Background To evaluate the prevalence, risk factors and treatment of retinopathy of prematurity (ROP) in Turkey and to establish screening criteria for this condition. Methods A prospective cohort study (TR-ROP) was performed ...
IL1RN Variation Influences Both Disease Susceptibility and Response to Recombinant Human Interleukin-1 Receptor Antagonist Therapy in Systemic Juvenile Idiopathic Arthritis
(Wiley, 2018)
Objective. To determine whether systemic juvenile idiopathic arthritis (JIA) susceptibility loci that were identified by candidate gene studies demonstrate association with systemic JIA in the largest study population ...
Impact Of Rhinitis On Work Productivity: A Systematic Review
(Elsevier Science Bv, 2018)
BACKGROUND: Allergic rhinitis (AR) is increasingly acknowledged as having a substantial socioeconomic impact associated with impaired work productivity, although available information remains fragmented. OBJECTIVE: This ...
IL-12Rβ1 Deficiency: Mutation Update and Description of the IL12RB1 Variation Database
(Wiley, 2013)
IL-12R1 deficiency is an autosomal recessive disorder characterized by predisposition to recurrent and/or severe infections caused by otherwise poorly pathogenic mycobacteria and salmonella. IL-12R1 is a receptor chain of ...
Identification Of Loss-Of-Function Mutations Of Slc35D1 In Patients With Schneckenbecken Dysplasia, But Not With Other Severe Spondylodysplastic Dysplasias Group Diseases
(Bmj Publishing Group, 2009)
Background: Schneckenbecken dysplasia (SBD) is an autosomal recessive lethal skeletal dysplasia that is classified into the severe spondylodysplastic dysplasias (SSDD) group in the international nosology for skeletal ...
18F-Fdg Pet/Ct Rarely Provides Additional Information Other Than Primary Tumor Detection In Patients With Pulmonary Carcinoid Tumors
(Saudi Thoracic Soc, 2014)
Aim: The purpose of this study was to assess the contribution of (18) F-fluorodeoxyglucose (FDG) Positron Emission Tomography (PET)/Computed Tomography (CT) in detection and staging of pulmonary carcinoid tumors. Methods: ...