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

المؤلفون: Kozina AA; Institute of Biomedical Chemistry, Moscow, Russia.; Pirogov Russian National Research Medical University, Moscow, Russia., Okuneva EG; Genotek Ltd., Moscow, Russia., Baryshnikova NV; Pirogov Russian National Research Medical University, Moscow, Russia.; Genotek Ltd., Moscow, Russia., Kondakova OB; Scientific and Practical Centre of Pediatric Psychoneurology of Moscow Healthcare Department, Moscow, Russia., Nikolaeva EA; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University, Moscow, Russia., Fedoniuk ID; Russian Children's Clinical Hospital, Moscow, Russia., Mikhailova SV; Russian Children's Clinical Hospital, Moscow, Russia., Krasnenko AY; Genotek Ltd., Moscow, Russia., Stetsenko IF; Genotek Ltd., Moscow, Russia., Plotnikov NA; Genotek Ltd., Moscow, Russia., Klimchuk OI; Genotek Ltd., Moscow, Russia., Popov YV; Genotek Ltd., Moscow, Russia., Surkova EI; Genotek Ltd., Moscow, Russia., Shatalov PA; Genotek Ltd., Moscow, Russia.; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University, Moscow, Russia., Rakitko AS; Genotek Ltd., Moscow, Russia.; Faculty of Mechanics and Mathematics, Lomonosov Moscow State University, Moscow, Russia., Ilinsky VV; Institute of Biomedical Chemistry, Moscow, Russia.; Pirogov Russian National Research Medical University, Moscow, Russia.; Genotek Ltd., Moscow, Russia.; Vavilov Institute of General Genetics, Moscow, Russia.

المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Jul; Vol. 8 (7), pp. e1228. Date of Electronic Publication: 2020 May 15.

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

بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Neuronal Ceroid-Lipofuscinoses/*genetics , Population/*genetics, Aminopeptidases/genetics ; Child ; Child, Preschool ; Dipeptidyl-Peptidases and Tripeptidyl-Peptidases/genetics ; Female ; Gene Frequency ; Heterozygote ; Humans ; Male ; Membrane Proteins/genetics ; Membrane Transport Proteins/genetics ; Neuronal Ceroid-Lipofuscinoses/pathology ; Potassium Channels/genetics ; Russia ; Serine Proteases/genetics ; Tripeptidyl-Peptidase 1

المؤلفون: Kozina AA; Institute of Biomedical Chemistry, Pogodinskaya street 10 building 8, 119121, Moscow, Russia.; Pirogov Russian National Research Medical University, Ostrovitianova street 1, 117997, Moscow, Russia., Trofimova TA; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University, Taldomskaya str 2, 125412, 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., Obuhova VA; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University, Taldomskaya str 2, 125412, Moscow, Russia., Krasnenko AY; Pirogov Russian National Research Medical University, Ostrovitianova street 1, 117997, Moscow, Russia.; Genotek Ltd., Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia., Tsukanov KY; 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., Shatalov PA; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University, Taldomskaya str 2, 125412, Moscow, Russia.; Genotek Ltd., Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia., Ilinsky VV; Institute of Biomedical Chemistry, Pogodinskaya street 10 building 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 nephrology [BMC Nephrol] 2019 Oct 26; Vol. 20 (1), pp. 389. Date of Electronic Publication: 2019 Oct 26.

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

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100967793 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2369 (Electronic) Linking ISSN: 14712369 NLM ISO Abbreviation: BMC Nephrol Subsets: MEDLINE

مواضيع طبية MeSH: Epithelial Sodium Channels/*genetics , Liddle Syndrome/*genetics, Adolescent ; Amiloride/therapeutic use ; Blood Pressure ; Epithelial Sodium Channel Blockers/therapeutic use ; Female ; Frameshift Mutation ; Heterozygote ; Humans ; Liddle Syndrome/drug therapy ; Liddle Syndrome/physiopathology ; Male ; Middle Aged ; Pedigree ; Renin/blood ; Russia

المؤلفون: Okuneva EG; Genotek Ltd., Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia., Kozina AA; Institute of Biomedical Chemistry, Pogodinskaya street 10 building 8, 119121, Moscow, Russia., Baryshnikova NV; Genotek Ltd., Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia.; Pirogov Russian National Research Medical University, Ostrovitianova street 1, 117997, Moscow, Russia., Krasnenko AY; Genotek Ltd., Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia.; Pirogov Russian National Research Medical University, Ostrovitianova street 1, 117997, Moscow, Russia., Tsukanov KY; 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; Pirogov Russian National Research Medical University, Ostrovitianova street 1, 117997, Moscow, Russia.; Vavilov Institute of General Genetics, Gubkina street 3, 119333, Moscow, Russia.

المصدر: BMC dermatology [BMC Dermatol] 2019 Jan 31; Vol. 19 (1), pp. 4. Date of Electronic Publication: 2019 Jan 31.

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

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100968541 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-5945 (Electronic) Linking ISSN: 14715945 NLM ISO Abbreviation: BMC Dermatol Subsets: MEDLINE

مواضيع طبية MeSH: Cutis Laxa/*genetics , Elastin/*genetics, Adult ; Child ; DNA Mutational Analysis ; Exons/genetics ; Female ; Frameshift Mutation ; Heterozygote ; Humans ; Kazakhstan ; Male ; Exome Sequencing

SCR Disease Name: Cutis Laxa, Autosomal Dominant

المؤلفون: Kozina AA; Institute of Biomedical Chemistry, Pogodinskaya street 10 building 8, 119121, Moscow, Russia.; Genotek Ltd, Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia., Okuneva EG; Genotek Ltd, Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia., Baryshnikova NV; Genotek Ltd, Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia.; Pirogov Russian National Research Medical University, Ostrovitianova street 1, 117997, Moscow, Russia., Krasnenko AY; Genotek Ltd, Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia.; Pirogov Russian National Research Medical University, Ostrovitianova street 1, 117997, Moscow, Russia., Tsukanov KY; Genotek Ltd, Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia., Klimchuk OI; Genotek Ltd, Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia., Kondakova OB; Scientific and Practical Centre of Pediatric psychoneurology of Moscow Healthcare Department, Michurinsky prospect, 74, 119602, Moscow, Russia., Larionova AN; Scientific and Practical Centre of Pediatric psychoneurology of Moscow Healthcare Department, Michurinsky prospect, 74, 119602, Moscow, Russia., Batysheva TT; Scientific and Practical Centre of Pediatric psychoneurology of Moscow Healthcare Department, Michurinsky prospect, 74, 119602, Moscow, Russia., Surkova EI; Genotek Ltd, Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia. esurkova@genotek.ru., Shatalov PA; Genotek Ltd, Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia.; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University, Taldomskaya str 2, 125412, Moscow, Russia., Ilinsky VV; Institute of Biomedical Chemistry, Pogodinskaya street 10 building 8, 119121, Moscow, Russia.; Genotek Ltd, Nastavnicheskii pereulok 17/1, 105120, Moscow, Russia.; Pirogov Russian National Research Medical University, Ostrovitianova street 1, 117997, Moscow, Russia.; Vavilov Institute of General Genetics, Gubkina street 3, 119333, Moscow, Russia.

المصدر: BMC medical genetics [BMC Med Genet] 2018 Aug 25; Vol. 19 (1), pp. 151. Date of Electronic Publication: 2018 Aug 25.

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: Membrane Transport Proteins/*genetics , Mutation/*genetics , Neuronal Ceroid-Lipofuscinoses/*genetics, Child, Preschool ; Female ; Humans ; Russia

SCR Disease Name: Ceroid Lipofuscinosis, Neuronal, 7

المؤلفون: Klimchuk OI; School of Bioengineering and Bioinformatics, Lomonosov Moscow State University, 119991, Moscow, Russia., Konovalov KA; School of Chemistry, Lomonosov Moscow State University, 119991, Moscow, Russia., Perekhvatov VV; Belozersky Institute of Physico-Chemical Biology, Lomonosov Moscow State University, 119991, Moscow, Russia., Skulachev KV; Belozersky Institute of Physico-Chemical Biology, Lomonosov Moscow State University, 119991, Moscow, Russia., Dibrova DV; Belozersky Institute of Physico-Chemical Biology, Lomonosov Moscow State University, 119991, Moscow, Russia. udavdasha@belozersky.msu.ru., Mulkidjanian AY; School of Bioengineering and Bioinformatics, Lomonosov Moscow State University, 119991, Moscow, Russia. amulkid@uos.de.; Belozersky Institute of Physico-Chemical Biology, Lomonosov Moscow State University, 119991, Moscow, Russia. amulkid@uos.de.; Department of Physics, Osnabrueck University, 49069, Osnabrueck, Germany. amulkid@uos.de.

المصدر: Biology direct [Biol Direct] 2017 Nov 22; Vol. 12 (1), pp. 26. Date of Electronic Publication: 2017 Nov 22.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101258412 Publication Model: Electronic Cited Medium: Internet ISSN: 1745-6150 (Electronic) Linking ISSN: 17456150 NLM ISO Abbreviation: Biol Direct Subsets: MEDLINE

مواضيع طبية MeSH: Evolution, Molecular* , Internet* , Multigene Family*, Genomics/*methods

المؤلفون: Klimchuk OI; School of Bioengineering and Bioinformatics, Lomonosov Moscow State University, Moscow, 119991, Russia., Dibrova DV, Mulkidjanian AY

المصدر: Biochemistry. Biokhimiia [Biochemistry (Mosc)] 2016 May; Vol. 81 (5), pp. 481-90.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MAIK Nauka/Interperiodica Country of Publication: United States NLM ID: 0376536 Publication Model: Print Cited Medium: Internet ISSN: 1608-3040 (Electronic) Linking ISSN: 00062979 NLM ISO Abbreviation: Biochemistry (Mosc) Subsets: MEDLINE

مواضيع طبية MeSH: Bacteria/*enzymology , Bacterial Proteins/*classification , Oxidoreductases/*classification, Amino Acid Sequence ; Bacterial Proteins/chemistry ; Decarboxylation ; Molecular Sequence Data ; Oxidoreductases/chemistry ; Phylogeny ; Protein Structure, Tertiary ; Sequence Alignment