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Toplam kayıt 85, listelenen: 1-10
Characterization Of Large Rearrangements In Autosomal Dominant Polycystic Kidney Disease And The Pkd1/Tsc2 Contiguous Gene Syndrome
(Nature Publishing Group, 2008)
Large DNA rearrangements account for about 8% of disease mutations and are more common in duplicated genomic regions, where they are difficult to detect. Autosomal dominant polycystic kidney disease ( ADPKD) is caused by ...
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. ...
Eisenmenger Syndrome: Identifying The Clues For Arrhythmia
(Turkish Soc Cardiology, 2008)
Objective: The aim of this case-controlled, cross-sectional study is to investigate the tendency towards arrhythmia using noninvasive arrhythmia markers (QT dispersion and heart rate variability) in children with Eisenmenger ...
Childhood Onset Analgesic Intolerance: A Marker For Bronchial-Asthma In Adulthood?
(W B Saunders Co Ltd, 2008)
Analgesic intolerance (AI) which is classically known as a disease of the middle-aged adults, not uncommonly starts in childhood. In this study we sought to identify the characteristics of childhood onset Al and evaluated ...
Corticotropin Tests For Hypothalamic-Pituitary-Adrenal Insufficiency: A Metaanalysis
(Endocrine Soc, 2008)
Context: The diagnostic value of tests for detecting hypothalamic-pituitary adrenal insufficiency (HPAI) is controversial. Objective: Our objective was to compare standard-dose and low-dose corticotropin tests for diagnosing ...
Evaluation Of Prenatal-Onset Osteochondrodysplasias By Ultrasonography: A Retrospective And Prospective Analysis
(Wiley-Liss, 2008)
The osteochondrodysplasia or skeletal dysplasias are a heterogenous group of over 350 distinct disorders of skeletogenesis. Many manifest in the prenatal diagnosis. A retrospective analysis evaluated 1,500 cases referred ...
An Unusual Association Between Familial Mediterranean Fever and Igm Nephropathy
(Karger, 2008)
Objective: To report a case with the diagnosis of IgM nephropathy and familial Mediterranean fever (FMF). Clinical Presentation and Intervention: A 9-year-old boy was admitted to our hospital with recurrent abdominal pain ...