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    Wyświetlanie 1-4 z 4
    Tytuł:
    Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report.
    Autorzy:
    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. .
    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.
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    Źródło:
    BMC medical genetics [BMC Med Genet] 2020 Oct 21; Vol. 21 (1), pp. 209. Date of Electronic Publication: 2020 Oct 21.
    Typ publikacji:
    Case Reports; Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    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
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers.
    Autorzy:
    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.
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    Źródło:
    Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Jul; Vol. 8 (7), pp. e1228. Date of Electronic Publication: 2020 May 15.
    Typ publikacji:
    Case Reports; Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    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
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report.
    Autorzy:
    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. .
    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.
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    Źródło:
    BMC medical genetics [BMC Med Genet] 2018 Aug 25; Vol. 19 (1), pp. 151. Date of Electronic Publication: 2018 Aug 25.
    Typ publikacji:
    Case Reports; Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Membrane Transport Proteins/*genetics
    Mutation/*genetics
    Neuronal Ceroid-Lipofuscinoses/*genetics
    Child, Preschool ; Female ; Humans ; Russia
    SCR Disease Name:
    Ceroid Lipofuscinosis, Neuronal, 7
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
      Wyświetlanie 1-4 z 4

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