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Increased Frequency Of Extremely Skewed X Chromosome Inactivation In Juvenile Idiopathic Arthritis
(Wiley-Blackwell, 2009)
Objective. Juvenile idiopathic arthritis (JIA) is a childhood rheumatic disease of unknown etiology. Two subgroups of JIA, i.e., oligoarticular and polyarticular, are thought to have an autoimmune component, and show a ...
Atypical Choroid Plexus Papilloma: Clinical Experience in the Cpt-Siop-2000 Study
(Springer, 2009)
Atypical choroid plexus papilloma (APP) represents a novel intermediate-grade subtype of choroid plexus tumor (CPT), the clinical outcome of which has not been described yet. We present the first analysis of a group of APP ...
Cc2D2A Is Mutated In Joubert Syndrome And Interacts With The Ciliopathy-Associated Basal Body Protein Cep290
(Cell Press, 2008)
Joubert syndrome and related disorders (JSRD) are primarily autosomal-recessive conditions characterized by hypotonia, ataxia, abnormal eye movements, and intellectual disability with a distinctive mid-hindbrain malformation. ...
Carotid Artery Intima-Media Thickness and Distensibility in Children and Adolescents: Reference Values and Role of Body Dimensions
(Lippincott Williams & Wilkins, 2013)
Carotid intima-media thickness (cIMT) and carotid artery distensibility are reliable screening methods for vascular alterations and the assessment of cardiovascular risk in adult and pediatric cohorts. We sought to establish ...
Calpainopathy - A Survey of Mutations and Polymorphisms
(Cell Press, 1999)
Limb-girdle muscular dystrophy-type 2A (LGMD2A) is an autosomal recessive disorder characterized mainly by symmetrical and selective atrophy of the proximal limb muscles. It derives, from defects in the, human CAPN3 gene, ...
A Model of Complaint Based for Overcrowding Emergency Department: Five-Level Hacettepe Emergency Triage System
(Turkish Assoc Trauma Emergency Surgery, 2013)
BACKGROUND To compare ESI Five-Level Triage System with 5-Level Hacettepe Emergency Triage System (HETS), which was developed for Overcrowded EDs in our country. METHODS Over a period of six days, patients were assessed ...
Cardiac and Pulmonary Investigations in Bethlem Myopathy
(Amer Medical Assoc, 2006)
Background: Bethlem myopathy is considered a relatively mild neuromuscular disorder without significant cardiac and respiratory involvement. Objective: To investigate cardiac and respiratory involvement in Bethlem myopathy. ...
Cathepsin K Analysis In A Pycnodysostosis Cohort: Demographic, Genotypic And Phenotypic Features
(2014)
Background To characterize cathepsin K (CTSK) mutations in a group of patients with pycnodysostosis, who presented with either short stature or atypical fractures to pediatric endocrinology or dysmorphic features to pediatric ...
Cerebral Infarct Associated With Factor V Leiden Mutation In A Boy With Hemophilia A
(Wiley-Liss, 1997)
An 11-year-old boy with mild hemophilia A was admitted to our hospital because of focal convulsions, Magnetic resonance imaging showed an old occipital infarct. Protein C, S, antithrombin ill, anticardiolipin antibodies ...
