Yayıncı "Nature Publishing Group" için listeleme
Toplam kayıt 79, listelenen: 21-40
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De Novo Mutations In Smchd1 Cause Bosma Arhinia Microphthalmia Syndrome And Abrogate Nasal Development
(Nature Publishing Group, 2017)Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense mutations in the epigenetic ... -
Dietary Salt Intake Is Related To Inflammation And Albuminuria In Primary Hypertensive Patients
(Nature Publishing Group, 2012)BACKGROUND/OBJECTIVES: In this study, we hypothesized that dietary salt intake may be related with inflammation and albuminuria independently from blood pressure (BP) in non-diabetic hypertensive patients. SUBJECTS/METHODS: ... -
Erlin1 Mutations Cause Teenage-Onset Slowly Progressive Als In A Large Turkish Pedigree
(Nature Publishing Group, 2018)Amyotrophic lateral sclerosis (ALS) is a late-onset motor neuron disease with mostly dominant inheritance and a life expectancy of 2-5 years; however, a quite common occurrence of atypical forms of the disease, due to ... -
European Registration Process For Clinical Laboratory Geneticists In Genetic Healthcare
(Nature Publishing Group, 2017)Tremendous progress in genetics and genomics led to a wide range of healthcare providers, genetic tests, and more patients who can benefit from these developments. To guarantee and improve the quality of genetic testing, ... -
Evidence From Autoimmune Thyroiditis Of Skewed X-Chromosome Inactivation In Female Predisposition To Autoimmunity
(Nature Publishing Group, 2006)The etiologic factors in the development of autoimmune thyroid diseases (AITDs) are not fully understood. We investigated the role of skewed X-chromosome inactivation (XCI) mosaicism in female predisposition to AITDs. One ... -
Exonic Versus Intronic Snps: Contrasting Roles In Revealing The Population Genetic Differentiation Of A Widespread Bird Species
(Nature Publishing Group, 2015)Recent years have seen considerable progress in applying single nucleotide polymorphisms (SNPs) to population genetics studies. However, relatively few have attempted to use them to study the genetic differentiation of ... -
Familial Mediterranean Fever In The 'Chuetas' Of Mallorca: A Question Of Jewish Origin Or Genetic Heterogeneity
(Nature Publishing Group, 2000)Familial Mediterranean fever (FMF) is a hereditary disease commonly found among Jews, Armenians, Turks and Arabs. Recently, FMF was found in the 'Chuetas', a unique community on the island of Mallorca (Spain). To address ... -
Fish Studies In 45 Patients With Rubinstein-Taybi Syndrome: Deletions Associated With Polysplenia, Hypoplastic Left Heart And Death In Infancy
(Nature Publishing Group, 1999)Rubinstein-Taybi syndrome (RTS) is a dominant Mendelian disorder characterised by mental retardation, a typical facies, broad thumbs and short stature. Previous reports indicated that 4-25% of RTS patients have a submicroscopic ... -
Four Novel Thymidine Phosphorylase Gene Mutations In Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome (Mngie) Patients
(Nature Publishing Group, 2003)Mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) is a rare autosomal recessive neurologic disorder characterised by multiple mitochondrial DNA deletions. In this study, five Turkish IVINGIE patients ... -
Genes For Spinocerebellar Ataxia With Blindness And Deafness (Scabd/Scar3, Mim# 271250 And Scabd2)
(Nature Publishing Group, 2016)Ataxia is a symptom that is often associated with syndromic inherited diseases. We previously reported the linkage of a novel syndrome, ataxia with blindness and deafness (SCAR3/SCABD, OMIM# 271250), to chromosome 6p21-p23 ... -
Genetic Association Study Of Exfoliation Syndrome Identifies A Protective Rare Variant At Loxl1 And Five New Susceptibility Loci
(Nature Publishing Group, 2017)Exfoliation syndrome (XFS) is the most common known risk factor for secondary glaucoma and a major cause of blindness worldwide. Variants in two genes, LOXL1 and CACNA1A, have previously been associated with XFS. To further ... -
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 ... -
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, ... -
High Prevalence Of Tert Promoter Mutations In Primary Squamous Cell Carcinoma Of The Urinary Bladder
(Nature Publishing Group, 2016)TERT promoter mutations (TERT-mut) are detectable in the majority of urothelial carcinomas. The detection of TERT-mut in urine is under investigation as a potential urine-based molecular-screening assay for bladder cancer. ... -
Highly-Sensitive Refractive Index Sensing By Near-Infrared Metatronic Nanocircuits
(Nature Publishing Group, 2018)In this work, we present a highly-sensitive refractive index sensor based on metatronic nanocircuits operating at near-infrared spectral range. The structure is designed based on simple nanorod geometry and fabricated by ... -
Homozygous Deficiency Of Ubiquitin-Ligase Ring-Finger Protein Rnf168 Mimics The Radiosensitivity Syndrome Of Ataxia-Telangiectasia
(Nature Publishing Group, 2011)Maintaining genomic integrity is critical to avoid life-threatening disorders, such as premature aging, neurodegeneration and cancer. A multiprotein cascade operates at sites of DNA double-strand breaks (DSBs) to recognize, ... -
Horizontal Muscle Transposition Or Oblique Muscle Weakening For The Correction Of V Pattern?
(Nature Publishing Group, 2014)Purpose To report and to analyze the efficacy of horizontal rectus muscle transposition and inferior oblique muscle weakening in terms of pattern correction for patients with V pattern. Methods The review of the medical ... -
Human Intracellular Isg15 Prevents Interferon-Alpha/Beta Over-Amplification And Auto-Inflammation
(Nature Publishing Group, 2015)Intracellular ISG15 is an interferon (IFN)-alpha/beta-inducible ubiquitin-like modifier which can covalently bind other proteins in a process called ISGylation; it is an effector of IFN-alpha/beta-dependent antiviral ... -
Identification Of A Founder Mutation In Tpm3 In Nemaline Myopathy Patients Of Turkish Origin
(Nature Publishing Group, 2008)To date, six genes are known to cause nemaline (rod) myopathy (NM), a rare congenital neuromuscular disorder. In an attempt to find a seventh gene, we performed linkage and subsequent sequence analyses in 12 Turkish families ... -
In Vivo Confocal Microscopic Evaluation Of Keratic Precipitates And Endothelial Morphology In Fuchs' Uveitis Syndrome
(Nature Publishing Group, 2012)Purpose To evaluate the endothelial cell layer in patients with Fuchs' uveitis syndrome (FUS) with respect to the type and distribution of keratic precipitates (KP), endothelial cell morphology, and endothelial cell density ...
