المؤلفون: Kiseleva OI; Institute of Biomedical Chemistry, Moscow 119121, Russia., Pyatnitskiy MA; Institute of Biomedical Chemistry, Moscow 119121, Russia.; Faculty of Computer Science, National Research University Higher School of Economics, Moscow 101000, Russia., Arzumanian VA; Institute of Biomedical Chemistry, Moscow 119121, Russia., Kurbatov IY; Institute of Biomedical Chemistry, Moscow 119121, Russia., Ilinsky VV; Research Department, Eligens S.I.A., LV-2167 Marupes, Latvia., Ilgisonis EV; Institute of Biomedical Chemistry, Moscow 119121, Russia., Plotnikova OA; Federal Research Centre of Nutrition, Biotechnology and Food Safety, Russian Academy of Sciences, Moscow 109240, Russia., Sharafetdinov KK; Federal Research Centre of Nutrition, Biotechnology and Food Safety, Russian Academy of Sciences, Moscow 109240, Russia.; Russian Medical Academy of Continuing Professional Education, Ministry of Health of the Russian Federation, Moscow 125993, Russia.; I.M. Sechenov First Moscow State Medical University (Sechenov University), Ministry of Health of the Russian Federation, Moscow 119991, Russia., Tutelyan VA; Federal Research Centre of Nutrition, Biotechnology and Food Safety, Russian Academy of Sciences, Moscow 109240, Russia.; I.M. Sechenov First Moscow State Medical University (Sechenov University), Ministry of Health of the Russian Federation, Moscow 119991, Russia., Nikityuk DB; Federal Research Centre of Nutrition, Biotechnology and Food Safety, Russian Academy of Sciences, Moscow 109240, Russia.; I.M. Sechenov First Moscow State Medical University (Sechenov University), Ministry of Health of the Russian Federation, Moscow 119991, Russia., Ponomarenko EA; Institute of Biomedical Chemistry, Moscow 119121, Russia., Poverennaya EV; Institute of Biomedical Chemistry, Moscow 119121, Russia.

المصدر: Biology [Biology (Basel)] 2024 Apr 18; Vol. 13 (4). Date of Electronic Publication: 2024 Apr 18.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101587988 Publication Model: Electronic Cited Medium: Print ISSN: 2079-7737 (Print) Linking ISSN: 20797737 NLM ISO Abbreviation: Biology (Basel) Subsets: PubMed not MEDLINE

المؤلفون: Kozina AA; Department of Medical Genomics Group, Institute of Biomedical Chemistry, Moscow, Russia.; Department of Science, Genotek Ltd., Moscow, Russia., Kanaeva GK; Medical Center Unity, Makhachkala, Russia., Baryshnikova NV; Department of General and Medical Genetics, Pirogov Russian National Research Medical University, Moscow, Russia.; Department of Science, Genotek Ltd., Moscow, Russia., Ilinskaya AY; Research Department, Eligens SIA, Marupes, Latvia., Kim AA; Department of Science, Genotek Ltd., Moscow, Russia., Erofeeva AV; Department of Science, Genotek Ltd., Moscow, Russia., Pogodina NA; Department of Science, Genotek Ltd., Moscow, Russia., Gadzhiyeva JP; Medical Center Unity, Makhachkala, Russia., Surkova EI; Department of Science, Genotek Ltd., Moscow, Russia., Ilinsky VV; Research Department, Eligens SIA, Marupes, Latvia.

المصدر: The Journal of international medical research [J Int Med Res] 2023 Oct; Vol. 51 (10), pp. 3000605231206294.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Sage Publications Country of Publication: England NLM ID: 0346411 Publication Model: Print Cited Medium: Internet ISSN: 1473-2300 (Electronic) Linking ISSN: 03000605 NLM ISO Abbreviation: J Int Med Res Subsets: MEDLINE

مواضيع طبية MeSH: Abnormalities, Multiple*/diagnosis , Abnormalities, Multiple*/genetics , Eye Abnormalities*/diagnosis , Eye Abnormalities*/genetics , Eye Abnormalities*/pathology , Kidney Diseases, Cystic*/diagnosis , Kidney Diseases, Cystic*/genetics , Kidney Diseases, Cystic*/pathology, Child ; Humans ; Cerebellum/diagnostic imaging ; Retina/diagnostic imaging ; Retina/pathology ; Phosphoric Monoester Hydrolases/genetics ; Mutation/genetics ; Membrane Proteins/genetics ; GTP-Binding Proteins/genetics

SCR Disease Name: Agenesis of Cerebellar Vermis

المؤلفون: Danilov SM; Department of Medicine, Division of Pulmonary, Critical Care, Sleep and Allergy, University of Illinois, Chicago, IL 60607, USA.; Department of Medicine, University of Arizona Health Sciences, Tucson, AZ 85721, USA.; Medical Center, Lomonosov Moscow State University, 119992 Moscow, Russia., Jain MS; Medical Center, Lomonosov Moscow State University, 119992 Moscow, Russia., A Petukhov P; Department of Pharmaceutical Sciences, College of Pharmacy, University of Illinois, Chicago, IL 60612, USA., Kurilova OV; Medical Center, Lomonosov Moscow State University, 119992 Moscow, Russia., Ilinsky VV; Genotek, Ltd., 105120 Moscow, Russia., Trakhtman PE; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, 117997 Moscow, Russia., Dadali EL; Medico-Genetic Center, 115478 Moscow, Russia., Samokhodskaya LM; Medical Center, Lomonosov Moscow State University, 119992 Moscow, Russia., Kamalov AA; Medical Center, Lomonosov Moscow State University, 119992 Moscow, Russia., Kost OA; Chemistry Faculty, Lomonosov Moscow State University, 119991 Moscow, Russia.

المصدر: Biomedicines [Biomedicines] 2023 Feb 13; Vol. 11 (2). Date of Electronic Publication: 2023 Feb 13.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101691304 Publication Model: Electronic Cited Medium: Print ISSN: 2227-9059 (Print) Linking ISSN: 22279059 NLM ISO Abbreviation: Biomedicines Subsets: PubMed not MEDLINE

عنوان ترانسليتريتد: Angedoniya pri rasstroistvakh nastroeniya i somaticheskikh zabolevaniyakh: rezul'taty razvedochnogo Mendelevskogo randomizatsionnogo analiza.

المؤلفون: Kasyanov ED; Bekhterev National Medical Research Center for Psychiatry and Neurology, St. Petersburg, Russia., Pinakhina DV; Bekhterev National Medical Research Center for Psychiatry and Neurology, St. Petersburg, Russia.; ITMO University, St. Petersburg, Russia., Rakitko AS; Bekhterev National Medical Research Center for Psychiatry and Neurology, St. Petersburg, Russia.; Genotek Ltd., Moscow, Russia., Vergasova EO; Genotek Ltd., Moscow, Russia., Yermakovich DP; Genotek Ltd., Moscow, Russia., Rukavishnikov GV; Bekhterev National Medical Research Center for Psychiatry and Neurology, St. Petersburg, Russia., Malyshko LV; Bekhterev National Medical Research Center for Psychiatry and Neurology, St. Petersburg, Russia., Popov YV; Genotek Ltd., Moscow, Russia., Kovalenko EV; Genotek Ltd., Moscow, Russia., Ilinskaya AY; Genotek Ltd., Moscow, Russia., Kim AA; Genotek Ltd., Moscow, Russia., Plotnikov NA; Genotek Ltd., Moscow, Russia., Neznanov NG; Bekhterev National Medical Research Center for Psychiatry and Neurology, St. Petersburg, Russia.; Pavlov First Saint-Petersburg State Medical University, St. Petersburg, Russia., Ilinsky VV; Bekhterev National Medical Research Center for Psychiatry and Neurology, St. Petersburg, Russia.; Genotek Ltd., Moscow, Russia., Kibitov AO; Bekhterev National Medical Research Center for Psychiatry and Neurology, St. Petersburg, Russia., Mazo GE; Bekhterev National Medical Research Center for Psychiatry and Neurology, St. Petersburg, Russia.

المصدر: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova [Zh Nevrol Psikhiatr Im S S Korsakova] 2023; Vol. 123 (4. Vyp. 2), pp. 65-73.

نوع المنشور: English Abstract; 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: Mendelian Randomization Analysis*/methods , Anhedonia*, Female ; Male ; Humans ; Genome-Wide Association Study ; Cross-Sectional Studies ; Phenotype ; Polymorphism, Single Nucleotide

عنوان ترانسليتريتد: Svyaz' depressii i trevogi s somaticheskimi zabolevaniyami: rol' negativnykh vneshnikh faktorov.

المؤلفون: Rukavishnikov GV; Bekhterev National Medical Research Center for Psychiatry and Neurology, St. Petersburg, Russia., Rakitko AS; Genotek Ltd, Moscow, Russia., Kasyanov ED; Bekhterev National Medical Research Center for Psychiatry and Neurology, St. Petersburg, Russia., Ilinsky VV; Genotek Ltd, Moscow, Russia., Malyshko LV; Bekhterev National Medical Research Center for Psychiatry and Neurology, St. Petersburg, Russia., Neznanov NG; Bekhterev National Medical Research Center for Psychiatry and Neurology, St. Petersburg, Russia.; Pavlov First Saint-Petersburg State Medical University, St. Petersburg, Russia., Kibitov AO; Bekhterev National Medical Research Center for Psychiatry and Neurology, St. Petersburg, Russia., Mazo GE; Bekhterev National Medical Research Center for Psychiatry and Neurology, St. Petersburg, Russia.

المصدر: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova [Zh Nevrol Psikhiatr Im S S Korsakova] 2023; Vol. 123 (4. Vyp. 2), pp. 74-80.

نوع المنشور: English Abstract; 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: Depressive Disorder, Major*/complications , Bipolar Disorder*/complications, Humans ; Depression/diagnosis ; Depression/epidemiology ; Depression/psychology ; Anxiety/epidemiology ; Anxiety/psychology ; Anxiety Disorders/diagnosis

المؤلفون: Kozina AA; Department of Medical Genomics Group, Institute of Biomedical Chemistry, Moscow, Russia.; Department of Clinical Laboratory Diagnostics, Pirogov Russian National Research Medical University, Moscow, Russia., Baryshnikova NV; Department of Clinical Laboratory Diagnostics, Pirogov Russian National Research Medical University, Moscow, Russia.; Department of Science, Genotek Limited, Moscow, Russia., Ilinskaya AY; Department of Science, Genotek Limited, Moscow, Russia., Kim AA; Department of Science, Genotek Limited, Moscow, Russia., Plotnikov NA; Department of Science, Genotek Limited, Moscow, Russia., Pogodina NA; Department of Science, Genotek Limited, Moscow, Russia., Surkova EI; Department of Science, Genotek Limited, Moscow, Russia., Shatalov PA; Department of Science, Genotek Limited, Moscow, Russia.; Department of Molecular Genetic Service, National Medical Research Centre of Radiology of the Ministry of Health of the Russian Federation, Obninsk, Russia., Ilinsky VV; Department of Science, Genotek Limited, Moscow, Russia.

المصدر: The Journal of international medical research [J Int Med Res] 2022 Dec; Vol. 50 (12), pp. 3000605221139718.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Sage Publications Country of Publication: England NLM ID: 0346411 Publication Model: Print Cited Medium: Internet ISSN: 1473-2300 (Electronic) Linking ISSN: 03000605 NLM ISO Abbreviation: J Int Med Res Subsets: MEDLINE

مواضيع طبية MeSH: Charcot-Marie-Tooth Disease*/diagnosis , Charcot-Marie-Tooth Disease*/genetics, Male ; Humans ; Child ; Adult ; Myelin P0 Protein/genetics ; Mutation/genetics ; Electromyography ; Family

المؤلفون: Kibitov AA; V.M. Bekhterev National Medical Research Center for Psychiatry and Neurology, Bekhtereva str., 3, Saint-Petersburg, Russia., Rakitko AS; V.M. Bekhterev National Medical Research Center for Psychiatry and Neurology, Bekhtereva str., 3, Saint-Petersburg, Russia.; Genotek Ltd., Nastavnicheskiy Lane, 17-1, Moscow, Russia., Kasyanov ED; V.M. Bekhterev National Medical Research Center for Psychiatry and Neurology, Bekhtereva str., 3, Saint-Petersburg, Russia., Rukavishnikov GV; V.M. Bekhterev National Medical Research Center for Psychiatry and Neurology, Bekhtereva str., 3, Saint-Petersburg, Russia., Kozlova KA; Lomonosov Moscow State University, GSP-1, Leninskie Gory, Moscow, Russia., Ilinsky VV; V.M. Bekhterev National Medical Research Center for Psychiatry and Neurology, Bekhtereva str., 3, Saint-Petersburg, Russia.; Genotek Ltd., Nastavnicheskiy Lane, 17-1, Moscow, Russia., Neznanov NG; V.M. Bekhterev National Medical Research Center for Psychiatry and Neurology, Bekhtereva str., 3, Saint-Petersburg, Russia.; First Pavlov State Medical University of St. Petersburg, L'va Tolstogo str. 6-8. Saint Petersburg, Russia., Mazo GE; V.M. Bekhterev National Medical Research Center for Psychiatry and Neurology, Bekhtereva str., 3, Saint-Petersburg, Russia., Kibitov AO; V.M. Bekhterev National Medical Research Center for Psychiatry and Neurology, Bekhtereva str., 3, Saint-Petersburg, Russia.; Serbsky National Medical Research Center on Psychiatry and Addictions, Kropotkinsky lane, 23, Moscow, 119034, Russia.

المصدر: Clinical practice and epidemiology in mental health : CP & EMH [Clin Pract Epidemiol Ment Health] 2021 Dec 22; Vol. 17, pp. 205-211. Date of Electronic Publication: 2021 Dec 22 (Print Publication: 2021).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Bentham Open Country of Publication: United Arab Emirates NLM ID: 101245735 Publication Model: eCollection Cited Medium: Print ISSN: 1745-0179 (Print) Linking ISSN: 17450179 NLM ISO Abbreviation: Clin Pract Epidemiol Ment Health Subsets: PubMed not MEDLINE

المؤلفون: Boev AS; Russian Quantum Center, Skolkovo, Moscow, 143025, Russia., Rakitko AS; Genotek ltd., Moscow, 105120, Russia., Usmanov SR; Russian Quantum Center, Skolkovo, Moscow, 143025, Russia., Kobzeva AN; Russian Quantum Center, Skolkovo, Moscow, 143025, Russia., Popov IV; Genotek ltd., Moscow, 105120, Russia., Ilinsky VV; Genotek ltd., Moscow, 105120, Russia., Kiktenko EO; Russian Quantum Center, Skolkovo, Moscow, 143025, Russia.; Moscow Institute of Physics and Technology, Dolgoprudny, 141700, Russia., Fedorov AK; Russian Quantum Center, Skolkovo, Moscow, 143025, Russia. akf@rqc.ru.; Moscow Institute of Physics and Technology, Dolgoprudny, 141700, Russia. akf@rqc.ru.

المصدر: Scientific reports [Sci Rep] 2021 Jun 23; Vol. 11 (1), pp. 13183. Date of Electronic Publication: 2021 Jun 23.

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

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

مواضيع طبية MeSH: Computational Biology/*methods , Genomics/*methods , Sequence Analysis, DNA/*methods, Algorithms ; Bacteriophage phi X 174/genetics ; Computer Simulation ; DNA, Viral/genetics ; Datasets as Topic ; Genome, Viral ; Humans ; Mathematics ; Quantum Theory

المؤلفون: Gurbich TA; Genotek Ltd., Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia. tgurbich@genotek.ru., Ilinsky VV; Genotek Ltd., Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia.

المصدر: Scientific reports [Sci Rep] 2020 Nov 23; Vol. 10 (1), pp. 20375. Date of Electronic Publication: 2020 Nov 23.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

مواضيع طبية MeSH: DNA Copy Number Variations* , Software*, Autism Spectrum Disorder/*diagnosis , Autoimmune Diseases/*diagnosis , Computational Biology/*methods , Neurodevelopmental Disorders/*diagnosis, Algorithms ; Autism Spectrum Disorder/genetics ; Autism Spectrum Disorder/metabolism ; Autism Spectrum Disorder/pathology ; Autoimmune Diseases/genetics ; Autoimmune Diseases/metabolism ; Autoimmune Diseases/pathology ; Databases, Genetic ; Genome, Human ; High-Throughput Nucleotide Sequencing ; Humans ; Neurodevelopmental Disorders/genetics ; Neurodevelopmental Disorders/metabolism ; Neurodevelopmental Disorders/pathology ; Practice Guidelines as Topic

المؤلفون: Kozina AA; Institute of Biomedical Chemistry, Pogodinskaya street 10/8, 119121, Moscow, Russia.; Pirogov Russian National Research Medical University, Ostrovitianova street 1, 117997, Moscow, Russia., Okuneva EG; Genotek Ltd., Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia., Baryshnikova NV; Pirogov Russian National Research Medical University, Ostrovitianova street 1, 117997, Moscow, Russia.; Genotek Ltd., Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia., Fedonyuk ID; Russian Children's Clinical Hospital of Pirogov Russian National Research Medical University, Leniskiy prospekt 117, 117513, Moscow, Russia., Kholin AA; Pirogov Russian National Research Medical University, Ostrovitianova street 1, 117997, Moscow, Russia.; Russian Children's Clinical Hospital of Pirogov Russian National Research Medical University, Leniskiy prospekt 117, 117513, Moscow, Russia., Il'ina ES; Russian Children's Clinical Hospital of Pirogov Russian National Research Medical University, Leniskiy prospekt 117, 117513, Moscow, Russia., Krasnenko AY; Genotek Ltd., Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia., Stetsenko IF; Genotek Ltd., Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia., Plotnikov NA; Genotek Ltd., Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia., Klimchuk OI; Genotek Ltd., Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia., Surkova EI; Genotek Ltd., Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia. esurkova@genotek.ru., Ilinsky VV; Institute of Biomedical Chemistry, Pogodinskaya street 10/8, 119121, Moscow, Russia.; Pirogov Russian National Research Medical University, Ostrovitianova street 1, 117997, Moscow, Russia.; Genotek Ltd., Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia.; Vavilov Institute of General Genetics, Gubkina street 3, 119333, Moscow, Russia.

المصدر: BMC medical genetics [BMC Med Genet] 2020 Oct 21; Vol. 21 (1), pp. 209. Date of Electronic Publication: 2020 Oct 21.

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

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350 (Electronic) Linking ISSN: 14712350 NLM ISO Abbreviation: BMC Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Frameshift Mutation* , Mutation, Missense*, Cadherins/*genetics , Epilepsy/*genetics , Genetic Diseases, X-Linked/*genetics , Intellectual Disability/*genetics, Age of Onset ; Cadherins/deficiency ; Child ; Child, Preschool ; Epilepsy/diagnosis ; Epilepsy/pathology ; Female ; Gene Expression ; Genes, X-Linked ; Genetic Diseases, X-Linked/diagnosis ; Genetic Diseases, X-Linked/pathology ; Heterozygote ; Humans ; Intellectual Disability/diagnosis ; Intellectual Disability/pathology ; Pedigree ; Protocadherins ; Exome Sequencing ; X Chromosome Inactivation

SCR Disease Name: Epilepsy, Female-Restricted, with Mental Retardation