Search Results - "Khidiyatova, I. M."
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Association of cytokine gene polymorphisms in peptic ulcer development in the Bashkortostan Republic
Published in Russian journal of genetics (01-12-2014)“…Peptic ulcer disease (PUD) is a chronic disease based on recurrent gastric or duodenal ulcers. Association analysis of common polymorphisms of the cytokines…”
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Hereditary spastic paraplegias
Published in Nervno-myshechnye bolezni (05-01-2024)“…Hereditary spastic paraplegias represent a group of hereditary neurodegenerative disorders predominantly affecting corticospinal tracts which manifest with…”
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Depression and Anxiety in Parkinson’s Disease
Published in Neuroscience and behavioral physiology (01-06-2018)“…This review presents data from recent studies throughout the world on anxious-depressive disorders in patients with Parkinson’s disease (PD); their features…”
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Genetic epidemiological study of Bashkortostan Republic: The effect of genetic structure of population on the load of monogenic hereditary diseases
Published in Russian journal of genetics (01-04-2009)“…Here we present the data obtained during medical genetic examination of the population of five districts of Bashkortostan Republic (Burzyanskii, Baimakskii,…”
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Clinical and epidemiological characteristics of hereditary motor-sensory neuropathy 1X caused by the mutation c. 259C> G (p. P87A) in the GJB1 gene of patients from the Republic of Bashkortostan
Published in Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova (2017)“…Hereditary motor-sensory neuropathy 1X (НМСН 1X) is the second frequent form of hereditary motor-sensory neuropathies caused by mutations in the GJB1 gene (gap…”
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Two novel mutations in gene SPG4 in patients with autosomal dominant spastic paraplegia
Published in Russian journal of genetics (01-06-2016)“…Hereditary spastik paraplegias (HSP) are a group of neurodegenerative disorders with primary lesion of the pyramidal tract. The most frequent autosomal…”
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Role of allelic genes of matrix metalloproteinases and their tissue inhibitors in the risk of peptic ulcer disease development
Published in Russian journal of genetics (01-03-2016)“…Peptic ulcer disease is a chronic disease of the gastrointestinal tract, mainly manifesting itself in the formation of the fairly persistent ulcer defect of…”
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Role of Allelic Genes of Matrix Metalloproteinases and Their Tissue Inhibitors in the Peptic Ulcer Disease Development
Published in Genetika (01-03-2016)“…Peptic ulcer disease is a chronic disease of the gastrointestinal tract, mainly manifesting itself in the formation of the fairly persistent ulcer defect of…”
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The Genome Structure and DNA Diagnosis of Monogenic Hereditary Disorders in the Volga–Ural Region
Published in Molecular biology (New York) (01-01-2004)“…The review considers the main results of molecular analysis of the genes responsible for cystic fibrosis, phenylketonuria, Wilson-Konovalov disease,…”
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MFN2 gene analysis in patients with hereditary motor and sensory neuropathy from Bashkortostan Republic
Published in Russian journal of genetics (01-07-2013)“…Hereditary motor and sensory neuropathy (HMSN) type IIA is caused by mutations in the mitofusin type-2 ( MFN2 ) gene and represents one of the most common…”
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Analysis of Polymorphisms of the Huntington Disease Gene in Ethnic Populations of the Volga–Ural Region
Published in Molecular biology (New York) (01-11-2003)“…Eleven populations of the Volga-Ural region were analyzed with respect to three intragenic polymorphisms of the Huntington disease gene (IT15), including…”
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Haplotype Diversity and Reconstruction of Ancestral Haplotype Associated with the c.35delG Mutation in the GJB2 (Cx26) Gene among the Volgo-Ural Populations of Russia
Published in Actanaturae (01-07-2011)“…The mutations in theGJB2(Сх26) gene make the biggest contribution to hereditary hearing loss. The spectrum and prevalence of theGJB2gene mutations are specific…”
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Spectrum and frequency of mutations in the connexin 32 gene (GJB1) in hereditary and sensory neuropathy type 1X patients from Bashkortostan
Published in Russian journal of genetics (01-10-2008)“…Hereditary motor and sensory neuropathy type 1X (HMSN 1X) is the second most frequent form of demyelinating polyneuropathies and is caused by mutations in the…”
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Study of the Role of Genes Involved in the Metabolism of Histamine in the Development of Allergic Respiratory Diseases
Published in Russian journal of genetics (01-03-2024)“…The interaction of genetic, epigenetic, and environmental factors underlies the pathogenesis of allergic diseases. Allergic rhinitis and atopic bronchial…”
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Amyotrophic lateral sclerosis associated with a new pathogenic variant of the ERBB4 gene
Published in Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova (2024)“…Amyotrophic lateral sclerosis (ALS) is a sporadic disease in most of the cases; in 10-15% of cases genetic forms are recorded. A genetic form of ALS associated…”
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Analysis of ATL1 Gene Mutations and Clinical Features of the Disease Course in Patients with Hereditary Spastic Paraplegia
Published in Russian journal of genetics (01-09-2022)“…Hereditary spastic paraplegia (HSP) is a group of neurodegenerative disorders with a predominant lesion of the pyramidal tract. The autosomal dominant form of…”
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Major Mutation in the SPAST Gene in Patients with Autosomal Dominant Spastic Paraplegia from the Republic of Bashkortostan
Published in Russian journal of genetics (01-02-2019)“…Hereditary spastic paraplegia (HSP) is a group of neurodegenerative disorders with a predominant lesion of the pyramidal tract. To date, mutations responsible…”
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Distribution of the HLA-DRB1 Specificities in Populations of the Volga–Ural Region
Published in Russian journal of genetics (01-02-2004)Get full text
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Analysis of the IT15 Gene in Huntington's Disease Families
Published in Russian journal of genetics (01-08-2004)Get full text
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