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المؤلفون: Litvinova MM; Associate Professor, Deputy Head for Research Work, Department of Medical Genetics1; Clinical Geneticist; The Loginov Moscow Clinical Scientific Center of Moscow Healthcare Department, 86 Entuziastov Shosse, Moscow, 111123, Russia., Khafizov KF; Head of the Laboratory of Genomic Research; Central Research Institute of Epidemiology, Russian Federal Service for Surveillance on Consumer Rights Protection and Human Wellbeing, 3A Novogireevskaya St., Moscow, 111123, Russia., Speranskaya AS; Senior Researcher, Head of the Laboratory of Multiomix Investigations; Scientific Research Institute for Systems Biology and Medicine, Russian Federal Service for Surveillance on Consumer Rights Protection and Human Wellbeing, 18 Nauchniy Proezd, Moscow, 117246, Russia; Researcher; Lomonosov Moscow State University, 1 Leninskiye Gory, Moscow, 119991, Russia., Matsvay AD; Researcher, Laboratory of Genomic Methods Development; Centre for Strategic Planning and Management of Biomedical Health Risks of FMBA of Russia., Asanov AY; Professor, Department of Medical Genetics; I.M. Sechenov First Moscow State Medical University (Sechenov University), 8/2 Malaya Trubetskaya St., Moscow, 119991, Russia., Nikolskaya KA; Physician; The Loginov Moscow Clinical Scientific Center of Moscow Healthcare Department, 86 Entuziastov Shosse, Moscow, 111123, Russia., Vinokurova LV; Gastroenterologist; The Loginov Moscow Clinical Scientific Center of Moscow Healthcare Department, 86 Entuziastov Shosse, Moscow, 111123, Russia., Dubtsova EA; Head of the Department of Pathology of the Pancreas and Bile Ducts; The Loginov Moscow Clinical Scientific Center of Moscow Healthcare Department, 86 Entuziastov Shosse, Moscow, 111123, Russia., Ipatova MG; Associate Professor, Department of Hospital Pediatrics named after Academician V.A. Tabolin; Pirogov Russian National Research Medical University, 1 Ostrovitianova St., Moscow, 117997, Russia; Head of the Center for the Treatment of Developmental Anomalies and Diseases of the Hepatobiliary System in Children; N.F. Filatov Children's City Hospital of Moscow Healthcare Department, 15 Sadovaya-Kudrinskaya St., Moscow, 123001, Russia., Mukhina TF; Gastroenterologist; Morozovskaya Children's City Clinical Hospital of Moscow Healthcare Department, 1/9, 4 Dobrininskiy Pereulok, 119049, Moscow, Russia., Karnaushkina MA; Professor, Department of Internal Medicine with a Course of Cardiology and Functional Diagnostics named after Academician V.S. Moiseev; Peoples' Friendship University of Russia (RUDN University), 6 Miklukho-Maklaya St., Moscow, 117198, Russia., Bordin DS; Professor, Head of the Department of Pancreatic, Biliary and Upper Digestive Tract Disorders; The Loginov Moscow Clinical Scientific Center of Moscow Healthcare Department, 86 Entuziastov Shosse, Moscow, 111123, Russia; Professor, Department of Propaedeutic of Internal Diseases and Gastroenterology; A.I. Yevdokimov Moscow State University of Medicine and Dentistry, 20/1 Delegatskaya St., Moscow, 127473, Russia; Professor, Department of General Medical Practice and Family Medicine; Tver State Medical University, 4 Sovetaskaya St., Tver, 170100, Russia.

المصدر: Sovremennye tekhnologii v meditsine [Sovrem Tekhnologii Med] 2023; Vol. 15 (2), pp. 60-70. Date of Electronic Publication: 2023 Mar 29.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nizhegorodskai︠a︡ gosudarstvennai︠a︡ medit︠s︡inskai︠a︡ akademii︠a Country of Publication: Russia (Federation) NLM ID: 101604515 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2309-995X (Electronic) Linking ISSN: 20764243 NLM ISO Abbreviation: Sovrem Tekhnologii Med Subsets: MEDLINE

مواضيع طبية MeSH: Trypsin Inhibitor, Kazal Pancreatic*/genetics , Pancreatitis, Chronic*/genetics, Humans ; Adult ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Alleles ; Exons ; Trypsin/genetics ; Trypsinogen

المؤلفون: Ershova ES; Research Centre for Medical Genetics, Department of Molecular Biology, 115522 Moscow, Russia., Veiko NN; Research Centre for Medical Genetics, Department of Molecular Biology, 115522 Moscow, Russia., Nikitina SG; Mental Health Research Center, Kashirskoe Highway, 115522 Moscow, Russia., Balakireva EE; Mental Health Research Center, Kashirskoe Highway, 115522 Moscow, Russia., Martynov AV; Research Centre for Medical Genetics, Department of Molecular Biology, 115522 Moscow, Russia., Chudakova JM; Research Centre for Medical Genetics, Department of Molecular Biology, 115522 Moscow, Russia., Shmarina GV; Research Centre for Medical Genetics, Department of Molecular Biology, 115522 Moscow, Russia., Kostyuk SE; Research Centre for Medical Genetics, Department of Molecular Biology, 115522 Moscow, Russia., Salimova NA; Research Centre for Medical Genetics, Department of Molecular Biology, 115522 Moscow, Russia., Veiko RV; Research Centre for Medical Genetics, Department of Molecular Biology, 115522 Moscow, Russia., Porokhovnik LN; Research Centre for Medical Genetics, Department of Molecular Biology, 115522 Moscow, Russia., Asanov AY; Department of Medical Genetics, I.M. Sechenov First Moscow State Medical University (Sechenov University), 115522 Moscow, Russia., Izhevskaia VL; Research Centre for Medical Genetics, Department of Molecular Biology, 115522 Moscow, Russia., Kutsev SI; Research Centre for Medical Genetics, Department of Molecular Biology, 115522 Moscow, Russia., Simashkova NV; Mental Health Research Center, Kashirskoe Highway, 115522 Moscow, Russia., Kostyuk SV; Research Centre for Medical Genetics, Department of Molecular Biology, 115522 Moscow, Russia.

المصدر: Journal of personalized medicine [J Pers Med] 2022 Oct 31; Vol. 12 (11). Date of Electronic Publication: 2022 Oct 31.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101602269 Publication Model: Electronic Cited Medium: Print ISSN: 2075-4426 (Print) Linking ISSN: 20754426 NLM ISO Abbreviation: J Pers Med Subsets: PubMed not MEDLINE

المؤلفون: Litvinova MM; Department of Medical Genetics, Ministry of Public Health of the Russian Federation, I. M. Sechenov First Moscow State Medical University, Sechenov University, Moscow, Russia.; Moscow Health Department, The Loginov Moscow Clinical Scientific Center, Moscow, Russia., Khafizov K; Moscow Institute of Physics and Technology, National Research University, Dolgoprudny, Russia., Korchagin VI; Federal Service on Consumers' Rights Protection and Human Well-Being Surveillance, Central Research Institute for Epidemiology, Moscow, Russia., Speranskaya AS; Federal Service on Consumers' Rights Protection and Human Well-Being Surveillance, Central Research Institute for Epidemiology, Moscow, Russia., Asanov AY; Department of Medical Genetics, Ministry of Public Health of the Russian Federation, I. M. Sechenov First Moscow State Medical University, Sechenov University, Moscow, Russia., Matsvay AD; Moscow Institute of Physics and Technology, National Research University, Dolgoprudny, Russia.; Center of Strategic Planning of FMBA of Russia, Moscow, Russia., Kiselev DA; Department of Medical Genetics, Ministry of Public Health of the Russian Federation, I. M. Sechenov First Moscow State Medical University, Sechenov University, Moscow, Russia.; Center of Strategic Planning of FMBA of Russia, Moscow, Russia., Svetlichnaya DV; Department of Medical Genetics, Ministry of Public Health of the Russian Federation, I. M. Sechenov First Moscow State Medical University, Sechenov University, Moscow, Russia.; Moscow Regional Research and Clinical Institute (MONIKI), Moscow, Russia., Nuralieva SZ; Department of Medical Genetics, Ministry of Public Health of the Russian Federation, I. M. Sechenov First Moscow State Medical University, Sechenov University, Moscow, Russia., Moskalev AA; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, Moscow, Russia., Filippova TV; Department of Medical Genetics, Ministry of Public Health of the Russian Federation, I. M. Sechenov First Moscow State Medical University, Sechenov University, Moscow, Russia.

المصدر: Frontiers in genetics [Front Genet] 2021 May 12; Vol. 12, pp. 621049. Date of Electronic Publication: 2021 May 12 (Print Publication: 2021).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

المؤلفون: Balashova MS; Sechenov First Moscow State Medical University, Moscow, Russia; Center of Genetics and Reproductive Medicine «Genetico», Moscow, Russia. Electronic address: skalny3@microelements.ru., Tuluzanovskaya IG; Sechenov First Moscow State Medical University, Moscow, Russia., Glotov OS; D.O.Ott Research Institute of Obstetrics, Gynecology and Reproductology, St. Petersburg, Russia; St.Petersburg State Health Care Establishment the City Hospital №40, St. Petersburg, Russia; Saint Petersburg State University, St. Petersburg, Russia., Glotov AS; D.O.Ott Research Institute of Obstetrics, Gynecology and Reproductology, St. Petersburg, Russia; St.Petersburg State Health Care Establishment the City Hospital №40, St. Petersburg, Russia; Saint Petersburg State University, St. Petersburg, Russia., Barbitoff YA; Saint Petersburg State University, St. Petersburg, Russia; Bioinformatics Institute, St. Petersburg, Russia., Fedyakov MA; St.Petersburg State Health Care Establishment the City Hospital №40, St. Petersburg, Russia; Saint Petersburg State University, St. Petersburg, Russia., Alaverdian DA; St.Petersburg State Health Care Establishment the City Hospital №40, St. Petersburg, Russia., Ivashchenko TE; D.O.Ott Research Institute of Obstetrics, Gynecology and Reproductology, St. Petersburg, Russia., Romanova OV; D.O.Ott Research Institute of Obstetrics, Gynecology and Reproductology, St. Petersburg, Russia; St.Petersburg State Health Care Establishment the City Hospital №40, St. Petersburg, Russia., Sarana AM; St.Petersburg State Health Care Establishment the City Hospital №40, St. Petersburg, Russia; Saint Petersburg State University, St. Petersburg, Russia., Scherbak SG; St.Petersburg State Health Care Establishment the City Hospital №40, St. Petersburg, Russia; Saint Petersburg State University, St. Petersburg, Russia., Baranov VS; D.O.Ott Research Institute of Obstetrics, Gynecology and Reproductology, St. Petersburg, Russia; Saint Petersburg State University, St. Petersburg, Russia., Filimonov MI; Sechenov First Moscow State Medical University, Moscow, Russia., Skalny AV; Sechenov First Moscow State Medical University, Moscow, Russia; Taipei Medical University, Taipei, Taiwan., Zhuchenko NA; Sechenov First Moscow State Medical University, Moscow, Russia., Ignatova TM; Center of Endosurgery and Lithotripsy (CELT), Moscow, Russia; Burnasyan Federal Medical Biophysical Center of Federal Medical Biological Agency, Moscow, Russia., Asanov AY; Sechenov First Moscow State Medical University, Moscow, Russia.

المصدر: Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS) [J Trace Elem Med Biol] 2020 May; Vol. 59, pp. 126420. Date of Electronic Publication: 2019 Oct 25.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Gustav Fisher Country of Publication: Germany NLM ID: 9508274 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-3252 (Electronic) Linking ISSN: 0946672X NLM ISO Abbreviation: J Trace Elem Med Biol Subsets: MEDLINE

مواضيع طبية MeSH: High-Throughput Nucleotide Sequencing* , Polymerase Chain Reaction*, Copper-Transporting ATPases/*genetics , Hepatolenticular Degeneration/*genetics, Adult ; Female ; Gene Expression Profiling ; Genetic Variation/genetics ; Hepatolenticular Degeneration/diagnosis ; Humans ; Male ; Mutation ; Russia