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Toplam kayıt 73, listelenen: 1-10
The Effects of Pentoxifylline on Skeletal Muscle Contractility and Neuromuscular Transmission During Hypoxia
(2009)
Objectives: The objective of this study was to investigate the effects of pentoxifylline (PTX), a drug that is mainly used for indications related to tissue hypoxia, on hypoxia-induced inhibition of skeletal muscle ...
Genetic Diagnosis By Whole Exome Capture And Massively Parallel Dna Sequencing
(Natl Acad Sciences, 2009)
Protein coding genes constitute only approximately 1% of the human genome but harbor 85% of the mutations with large effects on disease-related traits. Therefore, efficient strategies for selectively sequencing complete ...
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 ...
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 ...
Biologic Therapy in Primary Systemic Vasculitis of the Young
(Oxford Univ Press, 2009)
Methods. This was a retrospective descriptive case series of children with PSV treated with biologic therapy between February 2002 and November 2007. Primary retrospective outcome assessment measures were: daily corticosteroid ...
Effect of Breastfeeding on Asthma, Lung Function and Bronchial Hyperreactivity in Isaac Phase Ii
(European Respiratory Soc Journals Ltd, 2009)
The association between breastfeeding and wheezing, lung function and atopy was evaluated in the International Study of Asthma and Allergy in Childhood (ISAAC) Phase II. Cross-sectional studies were performed in 27 centres ...
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 ...
Detecting Minimal Residual Disease In Neuroblastoma: The Superiority Of A Panel Of Real-Time Quantitative Pcr Markers
(Amer Assoc Clinical Chemistry, 2009)
BACKGROUND: PCR-based detection of minimal residual disease (MRD) in neuroblastoma (NB) patients can be used for initial staging and monitoring therapy response in bone marrow (BM) and peripheral blood (PB). PHOX2B has ...
Lad-1/Variant Syndrome Is Caused by Mutations in Fermt3
(Amer Soc Hematology, 2009)
Leukocyte adhesion deficiency-1/variant (LAD1v) syndrome presents early in life and manifests by infections without pus formation in the presence of a leukocytosis combined with a Glanzmann-type bleeding disorder, resulting ...
Homozygous Inactivating Mutations In The Nkx3-2 Gene Result In Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
(Cell Press, 2009)
Spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD) is a rare skeletal dysplasia with only a few cases reported in the literature. Affected individuals have a disproportionate short stature with a short and stiff neck and ...