نتایج جستجو برای: rare mutations
تعداد نتایج: 402573 فیلتر نتایج به سال:
conclusions presence of drug resistance mutations among the patients was significant. precore mutations were common amongst iranian hbv chronic carriers under lamivudine therapy and these mutations were accompanied by clinical relapse. patients and methods sequential sera were obtained from 88 chronic hbv carriers who received lamivudine for more than 24 months. polymerase and precore regions w...
Cornelia De Lange is a rare congenital syndrome with multiple anomalies including Facial dysmorphism, hirsutism, height, weight and head circumflex retardations, cardiac defects, gastrointestinal and renal defects and extremity anomaly. Prevalence of this syndrome is 1 to 30000 or 1 to 50000. The diagnosis of this syndrome is based on clinical evidence. Genetic foundation is known to have two...
background myeloproliferative disorders are a group of diseases characterized by increased proliferation of myeloid lineage. in addition to jak2v617f mutation, several mutations in the c-mpl gene were described in patients with philadelphia-negative chronic myeloproliferative disorders that could be important in the pathogenesis of diseases. the aim of present study was to investigate the frequ...
Recent work has led to the identification of several susceptibility genes for autism spectrum disorder (ASD) and an increased appreciation of the importance of rare and de novo mutations. Some of the mutations may be very hard to detect using current strategies, especially if they are located in regulatory regions. We present a new approach to identify functional mutations that exploit the fact...
the rare form of skeletal dysplasia is thanatophoric dysplasia. the meaning for thanatophoric dysplasia is death bearing which is derived from greek word. it occurs 1in 20,000 to 50,000. it is mainly due to mutations in the fibroblast growth factor receptor 3gene. features of thanatophoric dysplasia are frontal bossing, prominent eyes, narrow thorax, protruded abdomen and bowed legs. the knowle...
BACKGROUND NLRP7 mutations are responsible for recurrent molar pregnancies and associated reproductive wastage. To investigate the role of NLRP7 in sporadic moles and other forms of reproductive wastage, the authors sequenced this gene in a cohort of 135 patients with at least one hydatidiform mole or three spontaneous abortions; 115 of these were new patients. METHODS/RESULTS All mutations w...
BRAF non-V600 mutations are a distinct molecular subset of colorectal cancer (CRC) that has little to no clinical similarity the V600 mutations. It is generally considered correlate with better survival CRC patients. In this report, we present an unusual case midlife female patient who was initially diagnosed stage IIIC colon cancer, and multiple metastases were found 25 months after radical su...
OBJECTIVE Mutations in the type IV collagen alpha 1 gene (COL4A1) cause dominantly inherited cerebrovascular disease. We seek to determine the extent to which COL4A1 mutations contribute to sporadic, nonfamilial, intracerebral hemorrhages (ICHs). METHODS We sequenced COL4A1 in 96 patients with sporadic ICH. The presence of putative mutations was tested in 145 ICH-free controls. The effects of...
Our present ability to identify individuals who are at risk for sudden cardiac death (SCD) in the general population is poor. Although SCD risk has a heritable component, our understanding of the genetic basis of SCD is most advanced in rare arrhythmic disorders such as the long-QT and Brugada syndromes, in which mutations in genes encoding cardiac ion channels result in increased susceptibilit...
Backgrounds Hypotrichosis with juvenile macular dystrophy (HJMD) is a rare genetic disorder caused from mutations in the Cadherin 3 (CDH3) gene. Results In the present study, we reported an Iranian family with three affected members born to a consanguineous parent. Mutational analysis using whole exome sequencing has revealed a nucleotide change in CDH3 gene (NM_001793:exon8:c.830delG) which l...
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