Başlık için Dahili Tıp Bilimleri Bölümü Makale Koleksiyonu listeleme
Toplam kayıt 2912, listelenen: 1167-1186
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Genetic Basis Of Hyperlysinemia
(2013)Background Hyperlysinemia is an autosomal recessive inborn error of L-lysine degradation. To date only one causal mutation in the AASS gene encoding α-aminoadipic semialdehyde synthase has been reported. We aimed to better ... -
Genetic Diagnosis By Whole Exome Capture And Massively Parallel Dna Sequencing
(Natl Acad Sciences, 2009)Protein coding genes constitute only approximately 1% of the human genome but harbor 85% of the mutations with large effects on disease-related traits. Therefore, efficient strategies for selectively sequencing complete ... -
Genetic Landscape Of Congenital Myasthenic Syndromes From Turkey: Novel Mutations And Clinical Insights
(Sage Publications Inc, 2017)Congenital myasthenic syndromes are clinically and genetically heterogeneous disorders of neuromuscular transmission. Most are treatable, but certain subtypes worsen with cholinesterase inhibitors. This underlines the ... -
Genetic Linkage Study Of Familial Mediterranean Fever (Fmf) To 16P13.3 And Evidence For Genetic Heterogeneity In The Turkish Population
(British Med Journal Publ Group, 1997)Familial Mediterranean fever (FMF) is an autosomal recessive condition that is almost entirely restricted to the non-Askhenazi Jews, Arabs, Armenians, and Turks. Genetic linkage study of a large group of non-Turkish families ... -
Genetic Screening In Adolescents With Steroid-Resistant Nephrotic Syndrome
(Elsevier Science Inc, 2013)Genetic screening paradigms for congenital and infantile nephrotic syndrome are well established; however, screening in adolescents has received only minor attention. To help rectify this, we analyzed an unselected adolescent ... -
Genetic Spectrum Of Hereditary Neuropathies With Onset In The First Year Of Life
(2011)Early onset hereditary motor and sensory neuropathies are rare disorders encompassing congenital hypomyelinating neuropathy with disease onset in the direct post-natal period and Dejerine–Sottas neuropathy starting in ... -
Genetic Variations In Attention Deficit Hyperactivity Disorder Subtypes And Treatment Resistant Cases
(2016)Objective ObjectiveaaWe evaluated the distribution of alpha-2A adrenergic receptor (ADRA2A) and catechol-o-methyltransferase (COMT) single nucleotide polymorphisms (SNPs) among ADHD subtypes and other homogeneous patient ... -
Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part III: Bipolar Disorder
(Cell Press, 2003)Genome scans of bipolar disorder (BPD) have not produced consistent evidence for linkage. The rank-based genome scan meta-analysis (GSMA) method was applied to 18 BPD genome scan data sets in an effort to identify regions ... -
Genome-Wide Copy Number Variation In Sporadic Amyotrophic Lateral Sclerosis In The Turkish Population: Deletion Of Epha3 Is A Possible Protective Factor
(2013)The genome-wide presence of copy number variations (CNVs), which was shown to affect the expression and function of genes, has been recently suggested to confer risk for various human disorders, including Amyotrophic Lateral ... -
Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21 Receptor Deficiency
(2021)Biallelic inactivating mutations in IL21R causes a combined immunodeficiency that is often complicated by cryptosporidium infections. While eight IL-21R-deficient patients have been reported previously, the natural course, ... -
Genotype-Phenotype Analysis Of Human Frontoparietal Polymicrogyria Syndromes
(Wiley, 2005)Human cerebral cortical polymicrogyria is a heterogeneous disorder, with only one known gene (GPR56) associated with an apparently distinctive phenotype, termed bilateral frontoparietal polymicrogyria (BFPP). To define the ... -
Genotype-Phenotype Associations In Wt1 Glomerulopathy
(Nature Publishing Group, 2014)WT1 mutations cause a wide spectrum of renal and extrarenal manifestations. Here we evaluated disease prevalence, phenotype spectrum, and genotype-phenotype correlations of 61 patients with WT1-related steroid-resistant ... -
Genotype/Phenotype Correlation In Nephrotic Syndrome Caused By Wt1 Mutations
(Amer Soc Nephrology, 2010)Background and objectives: The risk of developing Wilms tumor (WT) can be present or absent in patients with nephrotic syndrome (NS) caused by WT1 mutations. Here, the genotype/phenotype correlation regarding the outcome ... -
Geoepidemiology and clinical characteristics of neonatal lupus erythematosus: a systematic literature review of individual patients’ data
(TÜBİTAK, 2020-01-09)Background/aim: Neonatal lupus erythematosus (NLE) is an autoimmune syndrome caused by transplacental transmission of maternal autoantibodies, often with devastating consequences. The objective of this systematic literature ... -
Germline Or Somatic Gpr101 Duplication Leads To X-Linked Acrogigantism: A Clinico-Pathological And Genetic Study
(2016)Non-syndromic pituitary gigantism can result from AIP mutations or the recently identified Xq26.3 microduplication causing X-linked acrogigantism (XLAG). Within Xq26.3, GPR101 is believed to be the causative gene, and the ... -
Giant Axonal Neuropathy Locus Refinement To A < 590 Kb Critical Interval
(Nature Publishing Group, 2000)Giant axonal neuropathy (GAN) is a rare autosomal recessive neurodegenerative disorder, characterised clinically by the development of chronic distal polyneuropathy during childhood, mental retardation, kinky or curly hair, ...
