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Toplam kayıt 94, listelenen: 51-60
Longitudinal Follow-Up of Two Patients with Dysspondyloenchondromatosis due to Novel Heterozygous Mutations in COL2A1
(KARGER, 2018)
Dysspondyloenchondromatosis (DSC) is a rare form of generalized enchondromatosis and characterized by short stature with unequal limb length, multiple enchondromas in metaphyseal and diaphyseal parts of the long tubular ...
Characteristics of optic neuropathy in Behcet disease
(LIPPINCOTT WILLIAMS & WILKINS, 2018)
Objective We present the clinical profile, features, and neuroimaging findings of 25 patients with Behcet disease (BD), and optic neuropathy (ON), which has been rarely reported in BD. Methods Data from 5 university hospitals ...
High-throughput gene expression analysis identifies p53-dependent and -independent pathways contributing to the adrenocortical dysplasia (acd) phenotype
(ELSEVIER SCIENCE BV, 2018)
In mammalian cells TPP1, encoded by the Acd gene, is a key component of the shelterin complex, which is required for telomere length maintenance and telomere protection. In mice, a hypomorphic mutation in Acd causes the ...
Compatibility of Lauge-Hansen Classification Between Plain Radiographs and Magnetic Resonance Imaging in Ankle Fractures
(ELSEVIER SCIENCE INC, 2018)
We evaluated the accuracy of the predictive injury sequences of the Lauge-Hansen (L-H) classification using magnetic resonance imaging (MRI) in patients with ankle fractures and determined the possible causes of mismatch. ...
Relationship of Autophagy and Apoptosis with Total Occlusion of Coronary Arteries
(INT SCIENTIFIC LITERATURE, INC, 2018)
Background: The primary aim of this study was to evaluate the level of autophagy and apoptosis enzymes in patients with coronary artery disease (CAD). Furthermore, we investigated the role of autophagy and apoptosis in the ...
Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families
(LIPPINCOTT WILLIAMS & WILKINS, 2018)
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Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegi
(WILEY, 2018)
We here describe novel compound heterozygous missense variants, NM_133443:c.[400C>T] and NM_133443:[1435G>A], in the glutamic-pyruvic transaminase 2 (GPT2) gene in a large consanguineous family with two affected siblings ...
Endoscopic and Surgical Treatment of Benign Tracheal Stenosis: A Multidisciplinary Team Approach
(MEDICAL TRIBUNE INC, 2018)
Purpose: Surgical resection and reconstruction are considered the most appropriate approaches to treat post-intubation tracheal stenosis (PITS). Bronchoscopic methods can be utilized as palliative therapy in patients who ...
Noncovalent Pyrene-Polyethylene Glycol Coatings of Carbon Nanotubes Achieve in Vitro Biocompatibility
(AMER CHEMICAL SOC, 2018)
Single-walled carbon nanotubes (SWNTs) have become increasingly exploited in biological applications, such as imaging and drug delivery. The application of SWNTs in biological settings requires the surface chemistry to ...
The impact of TFPI on coronary atherosclerotic burden
(COMENIUS UNIV, 2018)
OBJECTIVES: We aimed to associate a coronary artery disease (CAD) presence and severity with endothelial dysfunction (ED), carotid intima media thickness (CIMT) and Tissue Factor Pathway Inhibitor (TFPI). BACKGROUND: ED ...