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PubMed 17935240 Somatic and gonadal mosaicism in X-linked retinitis pigmentosa. The g.ORF15 + 652-653delAG mutation in the RPGR gene is the most frequent mutation in X-linked retinitis pigmentosa (XLRP). The objectiv 1.55 KB 2015-11-23 10 4 2021-12-23
PubMed 18235024 Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2. PURPOSE: Cone dystrophy with supernormal rod response (CDSRR) is a retinal disorder characterized by reduce 1.74 KB 2015-11-23 10 0 2021-12-23
PubMed 18487244 Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations. We investigated clinical and cellular phenotypes of 24 children with m 1.77 KB 2015-11-24 10 0 2021-12-23
PubMed 19218574 Phosphatidylinositol 3-kinase p85alpha regulatory subunit gene Met326Ile polymorphism in women with polycystic ovary syndrome. BACKGROUND: Insulin resistance is a core feature of polycystic ovary synd 1.83 KB 2015-11-24 10 17 2021-12-23
PubMed 19592582 Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms. Mutations leading to abrogation of matriptase-2 proteolytic activity 1.38 KB 2015-11-25 10 6 2021-12-23
PubMed 19728177 Prolonged hypothermia as a bridge to recovery for cerebral edema and intracranial hypertension associated with fulminant hepatic failure. BACKGROUND: To review evidence-based treatment options in pati 1.51 KB 2017-09-04 10 0 2021-12-23
PubMed 19811499 Independent and cooperative roles of tumor necrosis factor-alpha, nuclear factor-kappaB, and bone morphogenetic protein-2 in regulation of metastasis and osteomimicry of prostate cancer cells and diff 2.15 KB 2015-11-25 10 0 2021-12-23
PubMed 20683499 Effects of active constituents of Crocus sativus L., crocin on streptozocin-induced model of sporadic Alzheimer's disease in male rats. BACKGROUND: The involvement of water-soluble carotenoids, crocin 1.71 KB 2016-01-05 10 0 2021-12-23
PubMed 22048266 Exploratory investigation on functional significance of ETS2 and SIM2 genes in Down syndrome. Trisomy of the 21{st} chromosome leads to an over dosage of several regulatory genes in Down syndrome (DS) 1.34 KB 2015-11-26 10 4 2021-12-23
PubMed 24535067 Prevention of etomidate-induced myoclonus: which is superior: Fentanyl, midazolam, or a combination? A Retrospective comparative study. BACKGROUND: In this retrospective comparative study, we aimed to 1.52 KB 2016-01-16 10 0 2021-12-23