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Hacettepe Üniversitesi Hastaneleri Kan Bankası Aferez Ünitesi'nde Gerçekleştirilen Tedavi Amaçlı Aferez İşlemlerinin Değerlendirilmesi
(Tıp Fakültesi, 2002)
Apheresis is the process of separation and collection of blood components. A study was carried out to evaluate the safety and efficacy of therapeutic apheresis procedures performed in Hacettepe University Hospitals Blood ...
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 ...
Luddin Type Anthraquinone Glycosides from Putoria Calabrica
(Pharmaceutical Soc Japan, 2002)
Two new lucidin type anthraquinone glycosides, putorinoside A (1) and putorinoside B (2) were isolated from Putoria calabrica, in addition to two known anthraquinone glycosides, lucidin 3-O-beta-glucopyranoside (3) and ...
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. ...
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. ...
E148Q is a Disease-Causing Mefv Mutation: A Phenotypic Evaluation in Patients With Familial Mediterranean Fever
(Bmj Publishing Group, 2005)
Background: Familial Mediterranean fever (FMF) is one of the periodic fever syndromes. It is common among Turks, Jews, Arabs, and Armenians. Several mutations in the MEFV gene, including E148Q, have been identified as ...
Dysplastic Changes in Idiopathic Thrombocytopenic Purpura and The Effect of Corticosteroids to Increase Dysplasia and Cause Hyperdiploid Macropolycytes
(Wiley-Liss, 2000)
This study evaluates the dysplastic hematological changes in nine patients with idiopathic thrombocytopenic purpura (ITP) in 11 attacks, before and after corticosteroid treatment. The pretreatment blood smears of patients ...
Eular/Pres Endorsed Consensus Criteria For The Classification Of Childhood Vasculitides
(B M J Publishing Group, 2006)
Background: There has been a lack of appropriate classification criteria for vasculitis in children. Objective: To develop a widely accepted general classification for the vasculitides observed in children and specific and ...
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 ...
Human Osteoclast-Poor Osteopetrosis With Hypogammaglobulinemia Due To Tnfrsf11A (Rank) Mutations
(Cell Press, 2008)
Autosomal-Recessive Osteopetrosis (ARO) comprises a heterogeneous group of bone diseases for which mutations in five genes are known as causative. Most ARO are classified as osteoclast-rich, but recently a subset of ...
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 ...
Hyper-Igm Syndrome Type 4 With A B Lymphocyte-Intrinsic Selective Deficiency In Ig Class-Switch Recombination
(Amer Soc Clinical Investigation Inc, 2003)
Hyper-IgM syndrome (HIGM) is a heterogeneous condition characterized by impaired Ig class-switch recombination (CSR). The molecular defects that have so far been associated with this syndrome which affect the CD40 ligand ...
