نتایج جستجو برای: triplication
تعداد نتایج: 451 فیلتر نتایج به سال:
Genes from the Down syndrome (DS) critical region of human chromosome 21, which contribute to the pathology of DS, are also found on mouse chromosome 16. Several animal models of DS with triplication of genes from the DS critical region have been generated, including mouse trisomy 16 (Ts16) and a partial trisomic mouse, Ts65Dn. Using computer-assisted imaging of fura-2 fluorescence, we found an...
Background. Parkinson's disease (PD) is mostly characterized by alpha-synuclein (SNCA) aggregation and loss of nigrostriatal dopamine-containing neurons. In this study a novel SNCA multiplication is described in two siblings affected by severe parkinsonism featuring early onset dyskinesia, psychiatric symptoms, and cognitive deterioration. Methods. SNCA dosage was performed using High-Density C...
Ureteral triplication is a rare congenital anomaly of the urinary tract. Since the first description by Warny in 1870, approximately 100 known cases have been reported in the literature, often accompanied by a variety of associated anomalies in contralateral kidney. This report presents a case of ureteral triplication with contralateral duplication and vesicoureteral reflux (VUR) of the upper m...
Alpha Thalassemia is one of the most prevalent disorders worldwide with a [T1] high carrier rate in Mazandaran province (north of Iran). Carriers of --MED double gene deletion are at risk of having a child with hemoglobin haemoglobin[T2] H (HbH) disease, if they marry a silent carrier. Co-inheritance of αααAnti3.7 triplication that cannot be detected using hem...
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