Başlık için Tıp Fakültesi listeleme
Toplam kayıt 5759, listelenen: 3670-3689
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Nonradioactive Vitamin B-12 Absorption Test Evaluated In Controls And In Patients With Inherited Malabsorption Of Vitamin B-12
(Amer Assoc Clinical Chemistry, 2005)Background: Current tests for evaluation of vitamin B-12 absorption are problematic because they involve the use of radioactively labeled vitamin B-12. We describe a vitamin B-12 absorption test that circumvents this ... -
Nonsecretory Multiple Myeloma And Al Amyloidosis Presenting With Nephrotic Range Proteinuria
(2015)Nonsecretory multiple myeloma (NSMM) is the absence of a detectable monoclonal protein in serum and urine of a multiple myeloma (MM) patient and immunoglobulin light chain (AL) amyloidosis is a significantly rare complication. ... -
Nonsustained Atrial Fibrillation In Ischemic Stroke Patients And Stroke‐Free Controls From The Perspective Of Stroke Pathophysiology
(2016)Background Short‐lasting (<30 s), nonsustained episodes of atrial fibrillation (NS‐AF) are considered a risk factor for future development of paroxysmal or persistent AF. Nonetheless, their causal role in stroke pathogenesis ... -
Non‐Hodgkin's Lymphomas In Turkey: Eighteen Years’Experience At The Hacettepe University
(1994)In this retrospective study, 470 patients with non‐Hodgkin's lymphoma (NHL) who had been followed in the Hacettepe University Medical Oncology Department between 1973 and 1990, were evaluated to establish their epidemiologic, ... -
Normal 25-Hydroxyvitamin D Levels Are Associated With Less Proteinuria And Attenuate Renal Failure Progression In Children With Ckd
(Amer Soc Nephrology, 2016)Angiotensin-converting enzyme inhibitors (ACEi) for renin-angiotensin-aldosterone system (RAAS) blockade are routinely used to slow CKD progression. However, vitamin D may also promote renoprotection by suppressing renin ... -
Normal Basınçlı Hidrosefalinin Beyin Mrg Bulguları ile Değerlendirilmesi
(Tıp Fakültesi, 2023)The aim of this study is to reveal the profile of imaging findings in patients with idiopathic Normal Pressure Hydrocephalus (iNBH), to determine the correlation between these imaging findings and clinical findings, and ... -
Normal ve Molar Gebeliklerde Endometrial Reseptivitenin Değerlendirilmesi
(Tıp Fakültesi, 2013)Development of the placenta and fetus is a continuous process that begins at the time of fertilization. Endometrial receptivity and desidual invasion with trophoblasts are essential for succesful placentation and maintanence ... -
Normal-Tension Glaucoma And Obstructive Sleep Apnea Syndrome: A Prospective Study
(2014)Background Today, identified risk factors for normal-tension glaucoma (NTG) include abnormal ocular blood flow, abnormal blood coagulation, systemic hypotension, ischemic vascular disorders, and autoimmune diseases. However, ... -
Normative Values For Optical Coherence Tomography Parameters In Healthy Children And Interexaminer Agreement For Choroidal Thickness Measurements
(Consel Brasil Oftalmologia, 2018)Purpose: To (a) determine the normative values for optical coherence tomography (OCT) parameters such as central macular thickness, retinal nerve fiber layer thickness, and choroidal thickness in healthy children; (b) ... -
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 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 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 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 ...