Yayıncı "Nature Publishing Group" Dahili Tıp Bilimleri Bölümü için listeleme
Toplam kayıt 43, listelenen: 1-20
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A Recurrent De Novo Mutation In Kcnc1 Causes Progressive Myoclonus Epilepsy
(Nature Publishing Group, 2015)Progressive myoclonus epilepsies (PMEs) are a group of rare, inherited disorders manifesting with action myoclonus, tonicclonic seizures and ataxia. We sequenced the exomes of 84 unrelated individuals with PME of unknown ... -
Allelic Variants in Genes Associated with Hereditary Periodic Fever Syndromes as Susceptibility Factors for Reactive Systemic AA Amyloidosis
(Nature Publishing Group, 2004)We investigated the hypothesis that low-penetrance mutations in genes (TNFRSF1A, MEFV and NALP3/CIAS1) associated with hereditary periodic fever syndromes (HPFs) might be risk factors for AA amyloidosis among patients with ... -
Allergy-Specific Phenome-Wide Association Study For Immunogenes In Turkish Children
(Nature Publishing Group, 2016)To dissect the role of immunogenetics in allergy and asthma, we performed a phenome-wide association study in 974 Turkish children selected from a cross-sectional study conducted using ISAAC (International Study of Asthma ... -
Allogeneic Hematopoietic Sct For Adults Aml Using I.V. Bu In The Conditioning Regimen: Outcomes And Risk Factors For The Occurrence Of Hepatic Sinusoidal Obstructive Syndrome
(Nature Publishing Group, 2014)I.v. BU is frequently used in the conditioning regimen prior to allogeneic hematopoietic SCT (allo-HSCT); however, overall outcomes, incidence of hepatic sinusoidal obstructive syndrome (SOS) and its risk factors are not ... -
Analysis of Centrosome and Dna Damage Response In Plk4 Associated Seckel Syndrome
(Nature Publishing Group, 2017)Microcephalic primordial dwarfism (MPD) is a group of autosomal recessive inherited single-gene disorders with intrauterine and postnatal global growth failure. Seckel syndrome is the most common form of the MPD. Ten genes ... -
Bacteremic and Non-Bacteremic Pneumonia Caused by Acinetobacter Baumannii in Icus of South China: A Clinical and Microbiological Study
(Nature Publishing Group, 2017)Acinetobacter baumannii has been a dreadful problem for ICU physicians for a long time. Bacteremic pneumonia (BP) caused by this organism has a higher mortality compared to other organisms. Between 2012 and 2015, 86 BP and ... -
Bacterial Infection Prevention After Hematopoietic Cell Transplantation
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Benefit Of High-Dose Methylprednisolone In Comparison With Conventional-Dose Prednisolone During Remission Induction Therapy In Childhood Acute Lymphoblastic Leukemia For Long-Term Follow-Up
(Nature Publishing Group, 2003)Eight-year event-free survival (EFS) was evaluated in 205 patients with acute lymphoblastic leukemia (ALL), to consider the efficacy of high-dose methylprednisolone (HDMP) given during remission induction chemotherapy ... -
Characterization Of Large Rearrangements In Autosomal Dominant Polycystic Kidney Disease And The Pkd1/Tsc2 Contiguous Gene Syndrome
(Nature Publishing Group, 2008)Large DNA rearrangements account for about 8% of disease mutations and are more common in duplicated genomic regions, where they are difficult to detect. Autosomal dominant polycystic kidney disease ( ADPKD) is caused by ... -
Combined Pituitary Hormone Deficiency Due To Gross Deletions In The Pou1F1 (Pit-1) And Prop1 Genes
(Nature Publishing Group, 2017)Pituitary development depends on a complex cascade of interacting transcription factors and signaling molecules. Lesions in this cascade lead to isolated or combined pituitary hormone deficiency (CPHD). The aim of this ... -
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 ... -
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 ... -
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 ... -
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, ... -
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, ... -
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 ...
