منابع مشابه
Multiplex MALDI-TOF MS detection of mitochondrial variants in Brazilian patients with hereditary optic neuropathy
PURPOSE Leber hereditary optic neuropathy (LHON) is a mitochondrial disease characterized by bilateral vision loss. More than 95% of LHON cases are associated with one of the three main mtDNA mutations: G11778A, T14484C, and G3460A. The other 5% of cases are due to other rare mutations related to the disease. The aim of this study was to identify the prevalence and spectrum of LHON mtDNA mutati...
متن کاملGenetic characterization of Chinese hereditary non-polyposis colorectal cancer by DHPLC and multiplex PCR.
BACKGROUND Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant disease due to germline mutations of human mismatch repair genes, mainly hMLH1 and hMSH2. The aim of the present study was to identify the point mutations and large genomic deletions of hMLH1 and hMSH2 genes in 14 Chinese HNPCC families. METHODS Fourteen families fulfilling the Chinese HNPCC criteria were i...
متن کاملMultiplex analysis of the most common mutations related to hereditary haemochromatosis: two methods combining specific amplification with capillary electrophoresis.
We present the first application of a multiplex multicolour assay for the simultaneous detection of three of the most frequent mutations related to hereditary haemochromatosis (C282Y, H63D and S65C), using fluorescent detection and capillary electrophoresis. We describe two methods: the first is based on a single base extension assay, resulting in a single base difference of the extended produc...
متن کاملExpandable DNA Repeat and Human Hereditary Disorders
Background & Aims: Nearly 30 hereditary disorders in humans result from an increase in the number of copies of simple repeats in genomic DNA, including fragile X syndrome, myotonic dystrophy, Huntington’s disease, and Friedreich’s ataxia. One the most frequently occurring types of mutation is trinucleotide repeat expansion. The present study was conducted with the aim of investigating the cause...
متن کاملMultiplex Partial Nephrectomy, Repeat Partial Nephrectomy, and Salvage Partial Nephrectomy Remain the Primary Treatment in Multifocal and Hereditary Kidney Cancer
The standard of care treatment for solitary renal cell carcinoma (RCC) tumors 4 cm or less is partial nephrectomy (PNx). However, multifocal kidney cancer presents unique challenges for treating physicians. Historically, total nephrectomy and hemodialysis with possible renal transplant later was the primary therapeutic strategy for these patients. Later, as nephron sparing surgical approaches i...
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ژورنال
عنوان ژورنال: The Journal of Nervous and Mental Disease
سال: 1893
ISSN: 0022-3018
DOI: 10.1097/00005053-189310000-00011