Konu "Mutations" için Tıp Fakültesi Koleksiyonu listeleme
Toplam kayıt 8, listelenen: 1-8
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Autosomal Recessive Parkinson's Disease with Early-Onset in a Turkish Family
(Gazi Univ, Fac Med, 2019)Parkinson disease is a progressive, neurodegenerative disease with an increasing incidence of age. It is thought that genetic factors in etiology may be the underlying cause together with environmental factors. Sporadic ... -
Clinical and genetic features of PKAN patients in a tertiary centre in Turkey
(Elsevier Science Bv, 2017)Objective: Pantothenate kinase-associated neurodegeneration (PKAN) is caused by mutations of the pantothenate kinase 2 (PANK2) gene. The major clinical sign of PKAN is dystonia and the eye-of-the-tiger pattern on the MRI ... -
Comprehensive identification of erythrocyte membrane protein deficiency by 2D gel electrophoresis based proteomic analysis in hereditary elliptocytosis and spherocytosis
(Wiley-V C H Verlag Gmbh, 2012)Purpose Sodium dodecyl sulphate-polyacrylamide gel electrophoresis (1DE) may reveal qualitative or quantitative defects in red blood cell (RBC) membrane proteins, two-dimensional gel electrophoresis (2DE) can be used for ... -
Development of Cutaneous Toxicities During Selective Anti-BRAF Therapies: Preventive Role of Combination with MEK Inhibitors
(Acta Dermato-Venereologica, 2017)[No Abstract Available] -
Ebstein's anomaly associated with biventricular noncompaction
(Springer Japan Kk, 2021)[No Abstract Available] -
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease
(Cell Press, 2015)Development of the human nervous system involves complex interactions among fundamental cellular processes and requires a multitude of genes, many of which remain to be associated with human disease. We applied whole exome ... -
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin
(Amer Soc Clinical Investigation Inc, 2016)BACKGROUND. Arthrogryposis, defined as congenital, joint contractures in 2 or more body areas, is a clinical sign rather than a specific disease diagnosis. To date, more than 400 different disorders have been described ... -
A rare cause of fever in an adult: a case of familial Mediterranean fever
(Dove Medical Press Ltd, 2018)Background: Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease characterized by recurrent fever attacks and serositis. Nonspecific manifestations of the FMF can mimic many common acquired disorders ...