Başlık için listeleme
Toplam kayıt 29473, listelenen: 19385-19404
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Novel "Y" Stent Flow Diversion Technique For The Endovascular Treatment Of Bifurcation Aneurysms Without Endosaccular Coiling
(Amer Soc Neuroradiology, 2011)BACKGROUND AND PURPOSE: Stent-assisted endovascular treatment and flow diversion techniques are increasingly used for the management of wide-neck intracranial aneurysms. We report our initial clinical experience using a ... -
Novel Alu Retrotransposon Insertion Leading To Alstrom Syndrome
(Springer, 2012)Alstrom syndrome is a clinically complex disorder characterized by childhood retinal degeneration leading to blindness, sensorineural hearing loss, obesity, type 2 diabetes mellitus, cardiomyopathy, systemic fibrosis, and ... -
Novel Anti-Filamin-A Antibody Detects A Secreted Variant Of Filamin-A In Plasma From Patients With Breast Carcinoma And High-Grade Astrocytoma
(Wiley-Blackwell Publishing, Inc, 2009)Identification of tumor-derived proteins in the circulation may allow for early detection of cancer and evaluation of therapeutic responses. To identify circulating tumor-derived proteins, mice were immunized with concentrated ... -
Novel Atp6V1B1 And Atp6V0A4 Mutations In Autosomal Recessive Distal Renal Tubular Acidosis With New Evidence For Hearing Loss
(Bmj Publishing Group, 2002)Autosomal recessive distal renal tubular acidosis (rdRTA) is characterised by severe hyperchloraemic metabolic acidosis in childhood, hypokolaemia, decreased urinary calcium solubility, and impaired bone physiology and ... -
Novel Colloidal Poly(Ma-Alt-L-Dodecene)-G-Peo/Oda-Mmt/Agnps Nanohybrid Composites As Antimicrobial, Antifungal And Anticancer Platforms
(Budapest Univ Technol & Econ, 2018)This work presents a new approach to synthesize the colloidal ODA-MMT-poly(maleic anhydride-alt-1-dodecene)g-alpha,omega-methoxyhydroxyl-PEO/silver nanoparticles (AgNPs) nanohybrid composites (NHC) using the following ... -
Novel Compliant Wiper Mechanism
(Copernicus Gesellschaft Mbh, 2018)Conventional wiper mechanisms that are used in automotive vehicles comprise numerous linkages and joints. In this study, in order to obtain a simpler design, a novel compliant wiper mechanism is introduced. The wiper ... -
Novel Domain-Specific Pou3F4 Mutations Are Associated With X-Linked Deafness: Examples From Different Populations
(2015)Background Mutations in the POU3F4 gene cause X-linked deafness type 3 (DFN3), which is characterized by inner ear anomalies. Methods Three Turkish, one Ecuadorian, and one Nigerian families were included based on either ... -
Novel Hax1 Mutations In Patients With Severe Congenital Neutropenia Reveal Isoform-Dependent Genotype-Phenotype Associations
(Amer Soc Hematology, 2008)Homozygous mutations in HAX1 cause an autosomal recessive form of severe congenital neutropenia (CN). By screening 88 patients with CN, we identified 6 additional patients with HAX1 mutations carrying 4 novel mutations. ... -
Novel Layer-By-Layer Self-Assembled Peptide Nanocarriers For Sirna Delivery
(Royal Soc Chemistry, 2017)All complex and functional structures of nature consist of simple building blocks that are thermodynamically balanced and self-assembled at the molecular level. Production of functional bio-nanomaterials with molecular ... -
Novel Mutations Consolidate Kctd7 As A Progressive Myoclonus Epilepsy Gene
(Bmj Publishing Group, 2012)Background The progressive myoclonus epilepsies (PMEs) comprise a group of clinically and genetically heterogeneous disorders characterised by myoclonus, epilepsy, and neurological deterioration. This study aimed to identify ... -
Novel Mutations In Alox12B In Patients With Autosomal Recessive Congenital Ichthyosis And Evidence For Genetic Heterogeneity On Chromosome 17P13
(Nature Publishing Group, 2007)We report clinical and molecular findings in 20 patients from 11 families with autosomal recessive congenital ichthyosis (ARCI) linked to chromosome 17p13, and attributed to mutations in the ALOX gene cluster, which includes ... -
Novel Mutations In Genes Causing Hereditary Spastic Paraplegia And Charcot-Marie-Tooth Neuropathy Identified By An Optimized Protocol For Homozygosity Mapping Based On Whole-Exome Sequencing
(Nature Publishing Group, 2016)Purpose: Homozygosity mapping is an effective approach for detecting molecular defects in consanguineous families by delineating stretches of genomic DNA that are identical by descent. Constant developments in next-generation ... -
Novel Mutations In The Pc Gene In Patients With Type B Pyruvate Carboxylase Deficiency
(Springer-Verlag Berlin, 2013)We have investigated seven patients with the type B form of pyruvate carboxylase (PC) deficiency. Mutation analysis revealed eight mutations, all novel. In a patient with exon skipping on cDNA analysis, we identified a ... -
Novel Pathogenic Variants Underlie Slc26A4-Related Hearing Loss In A Multiethnic Cohort
(Elsevier Ireland Ltd, 2017)Objectives: The genetics of sensorineural hearing loss is characterized by a high degree of heterogeneity. Despite this heterogeneity, DNA variants found within SLC26A4 have been reported to be the second most common ... -
Novel Statıstıcal Approaches for Survıval Analysıs of Rna-Sequencıng Data
(Sağlık Bilimleri Enstitüsü, 2024-04-17)The number of people with cancer is increasing daily, and the mortality for cancer is constantly increasing since the biomarkers of many cancer types are unknown. Also, cancer doesn’t progress between individuals similarly, ... -
Novel Thiazolidinone-Azole Hybrids: Design, Synthesis And Antimycobacterial Activity Studies
(2016)To develop novel antimycobacterial agents, a new series of thiazolidinone-azole hybrids 4a-b, 5a-b and 6-13 were designed and synthesized. Thiazolidin-4-ones (4a-b and 5a-b) were obtained by the reaction of Schiff bases ... -
Novel Triazolothiadiazines Act As Potent Anticancer Agents In Liver Cancer Cells Through Akt And Ask-1 Proteins
(Pergamon-Elsevier Science Ltd, 2016)Newly designed triazolothiadiazines incorporating with structural motifs of nonsteroidal analgesic anti-inflammatory drugs were synthesized and screened for their bioactivity against epithelial cancer cells. Compounds with ... -
Novel Variant Syndrome Associated With Congenital Hepatic Fibrosis
(Baishideng Publishing Group Inc, 2015)Congenital hepatic fibrosis is part of many different malformation syndromes, of which oculo-encephalohepato-renal syndrome is the most common. These syndromes largely overlap, and so accurate classification of individual ...
