نتایج جستجو برای: rare mutation
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objective(s): it has been reported that the mutation of the pre-core (pc) and basal-core promoter (bcp) may play an important role in the development of hbv-related hepatocellular carcinoma (hcc). in this study the pc and bcp mutations were investigated in chronic hbv patients. materials and methods:in this study, 120 chronic hbv patients from golestan, northeast of iran who were not vaccinated...
Cystic fibrosis (CF, OMIM 219700) is one of the most common severe hereditary diseases occurring in white populations. It is characterised by considerable heterogeneity in the mutational spectrum and a diverse phenotypic presentation, which justifies extensive studies on the correlation between the cystic fibrosis transmembrane regulator (CFTR) genotype and the CF phenotype. Genotype-phenotype ...
mitochondrial neurogastrointestinal encephalo-myopathy (mngie) is a rare autosomal recessive disease caused by thymidine phosphorylase (tp) gene mutation. here we report a patient with mngie in whom sensorimotor polyneuropathy was the first presenting symptom and had a fluctuating course. this 26-year-old female patient developed acute-onset demyelinating polyneuropathy from the age of 6 with t...
mccune-albright syndrome (mas) is a rare, heterogenous, clinical condition caused by a rare genetic mutation. the disorder is more common in females and is characterized by a triad of cutaneous, bone and endocrine abnormalities. we describe a girl patient with mas having precocious puberty and multiple cafe-au-lait macules and deforming polyostotic fibrous dysplasia of bone. clinical presentat...
Penile Squamous Cell Carcinoma (SCC) is a rare cancer with poor prognosis and limited response to conventional chemotherapy. The genetic and epigenetic alterations of Epidermal Growth Factor Receptor (EGFR)-RAS-RAF signaling in penile SCC are unclear. This study aims to investigate four key members of this pathway in penile SCC. We examined the expression of EGFR and RAS-association domain fami...
H Syndrome is a rare genodermatosis of autosomal recessive inheritance characterised by the presence cutaneous and systemic manifestations. This syndrome due to mutation in SLC9A3 gene encoding hENTt3 transport protein. Still little known rare, its diagnosis difficult. Nearly 100 cases have been described, majority which were from Arab countries. The possible occurrence other undiagnosed or mis...
In 1906 Jadassohn and Lewandowsky described a rare genodermatoses named it pachyonychia congenita. Pachy means thick. It is group of involving keratin mutation with thickened nails variable associated findings. Pachyonychia congenita disease having four types. However, type 1 2 can be considered common among them. often mimic fungal infection as nail hyperkeratosis occur in both.
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