المؤلفون: Marakhonov AV; Research Centre for Medical Genetics, Moscow 115522, Russia., Vasilyeva TA; Research Centre for Medical Genetics, Moscow 115522, Russia., Minzhenkova ME; Research Centre for Medical Genetics, Moscow 115522, Russia., Sukhanova NV; Research Centre for Medical Genetics, Moscow 115522, Russia., Sparber PA; Research Centre for Medical Genetics, Moscow 115522, Russia., Andreeva NA; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow 117997, Russia., Teleshova MV; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow 117997, Russia., Baybagisova FK; Medical Center 'Evromed', Cherkessk 369000, Russia., Shilova NV; Research Centre for Medical Genetics, Moscow 115522, Russia., Kutsev SI; Research Centre for Medical Genetics, Moscow 115522, Russia., Zinchenko RA; Research Centre for Medical Genetics, Moscow 115522, Russia.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2023 Nov 29; Vol. 24 (23). Date of Electronic Publication: 2023 Nov 29.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: WAGR Syndrome*/diagnosis , WAGR Syndrome*/genetics , WAGR Syndrome*/pathology , Aniridia*/diagnosis , Aniridia*/genetics , Wilms Tumor*/genetics , Kidney Neoplasms*/genetics, Male ; Humans ; Infant ; Chromosome Deletion ; Chromosomes, Human, Pair 11/genetics ; Chromosome Inversion

عنوان ترانسليتريتد: Autosomno-dominantnye spasticheskie paraplegii.

المؤلفون: Rudenskaya GE; Bochkov Research Center for Medical Genetics, Moscow, Russia., Kadnikova VA; Bochkov Research Center for Medical Genetics, Moscow, Russia., Bessonova LA; Bochkov Research Center for Medical Genetics, Moscow, Russia., Sparber PA; Bochkov Research Center for Medical Genetics, Moscow, Russia., Kurbatov SA; Voronezh Regional Clinical Consultative and Diagnostic Center, Vodonezh, Russia., Mironovich OL; Bochkov Research Center for Medical Genetics, Moscow, Russia., Konovalov FA; Genomed LLC, Laboratory of Clinical Bioinformatics, Moscow, Russia., Ryzhkova OP; Bochkov Research Center for Medical Genetics, Moscow, Russia.

المصدر: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova [Zh Nevrol Psikhiatr Im S S Korsakova] 2021; Vol. 121 (5), pp. 75-87.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Media Sfera Country of Publication: Russia (Federation) NLM ID: 9712194 Publication Model: Print Cited Medium: Print ISSN: 1997-7298 (Print) Linking ISSN: 19977298 NLM ISO Abbreviation: Zh Nevrol Psikhiatr Im S S Korsakova Subsets: MEDLINE

مواضيع طبية MeSH: GTP-Binding Protein gamma Subunits* , Spastic Paraplegia, Hereditary*/diagnosis , Spastic Paraplegia, Hereditary*/genetics, Adolescent ; Child ; Heterozygote ; Humans ; Membrane Transport Proteins/genetics ; Mutation ; Phenotype

SCR Disease Name: Spastic paraplegia 10, autosomal dominant

المؤلفون: Marakhonov AV; Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics (RCMG), Moscow, Russia.; School of Biomedicine, Far Eastern Federal University, Vladivostok, Russia., Brodehl A; Erich and Hanna Klessmann Institute, Heart and Diabetes Centre NRW, University Hospital of the Ruhr-University Bochum, Bad Oeynhausen, Germany., Myasnikov RP; Department of Clinical Cardiology and Molecular Genetics, Federal State Institution National Center for Preventive Medicine, Moscow, Russia., Sparber PA; School of Biomedicine, Far Eastern Federal University, Vladivostok, Russia., Kiseleva AV; Laboratory of Molecular Genetics, Federal State Institution National Center for Preventive Medicine, Moscow, Russia., Kulikova OV; Department of Clinical Cardiology and Molecular Genetics, Federal State Institution National Center for Preventive Medicine, Moscow, Russia., Meshkov AN; Department of Molecular and Cellular Genetics, Pirogov Russian National Research Medical University, Moscow, Russia.; Laboratory of Molecular Genetics, Federal State Institution National Center for Preventive Medicine, Moscow, Russia., Zharikova AA; M.V. Lomonosov Moscow State University, Moscow, Russia.; Laboratory of Molecular Genetics, Federal State Institution National Center for Preventive Medicine, Moscow, Russia., Koretsky SN; Department of Fundamental and Applied Aspects of Obesity, Federal State Institution National Center for Preventive Medicine, Moscow, Russia., Kharlap MS; Cardiac Arrhythmias Department, Federal State Institution National Center for Preventive Medicine, Moscow, Russia., Stanasiuk C; Erich and Hanna Klessmann Institute, Heart and Diabetes Centre NRW, University Hospital of the Ruhr-University Bochum, Bad Oeynhausen, Germany., Mershina EA; M.V. Lomonosov Moscow State University, Moscow, Russia.; Radiology Department, Lomonosov Moscow State University Medical Research and Educational Center, Moscow, Russia., Sinitsyn VE; M.V. Lomonosov Moscow State University, Moscow, Russia.; Radiology Department, Lomonosov Moscow State University Medical Research and Educational Center, Moscow, Russia., Shevchenko AO; Department of Critical Care Translational Medicine, V.I. Shumakov National Medical Research Center of Transplantology and Artificial Organs, Moscow, Russia., Mozheyko NP; Pathology Department, V.I. Shumakov National Medical Research Center of Transplantology and Artificial Organs, Moscow, Russia., Drapkina OM; Department of Fundamental and Applied Aspects of Obesity, Federal State Institution National Center for Preventive Medicine, Moscow, Russia., Boytsov SA; National Medical Research Center of Cardiology, Moscow, Russia., Milting H; Erich and Hanna Klessmann Institute, Heart and Diabetes Centre NRW, University Hospital of the Ruhr-University Bochum, Bad Oeynhausen, Germany., Skoblov MY; Laboratory of Functional Genomics, Research Centre for Medical Genetics (RCMG), Moscow, Russia, Russia.; School of Biomedicine, Far Eastern Federal University, Vladivostok, Russia.

المصدر: Human mutation [Hum Mutat] 2019 Jun; Vol. 40 (6), pp. 734-741. Date of Electronic Publication: 2019 Apr 03.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Sequence Deletion*, Cardiomyopathy, Dilated/*genetics , Desmin/*chemistry , Desmin/*genetics, Adult ; Cardiomyopathy, Dilated/metabolism ; Cytoplasm/metabolism ; Desmin/metabolism ; Female ; Heart Defects, Congenital ; Humans ; Male ; Models, Molecular ; Pedigree ; Protein Domains ; Proteolysis ; Sarcomeres/metabolism