A rare familial rearrangement of chromosomes 9 and 15 associated with intellectual disability: a clinical and molecular study.

Autor: Lemskaya NA; Institute of Molecular and Cellular Biology SB RAS, Novosibirsk, Russia, 630090. lemnat@mcb.nsc.ru., Romanenko SA; Institute of Molecular and Cellular Biology SB RAS, Novosibirsk, Russia, 630090., Rezakova MA; State Scientific-Research Institute of Physiology and Basic Medicine, Novosibirsk, Russia, 630090., Filimonova EA; State Scientific-Research Institute of Physiology and Basic Medicine, Novosibirsk, Russia, 630090., Prokopov DY; Institute of Molecular and Cellular Biology SB RAS, Novosibirsk, Russia, 630090., Dolskiy AA; Federal State Budgetary Research Center of Virology and Biotechnology 'VECTOR', Federal Service for Surveillance on Consumer Rights Protection and Human Well-being (FBRI SRC VB 'VECTOR', Rospotrebnadzor), Novosibirsk Region, Koltsovo, Russia, 630559., Perelman PL; Institute of Molecular and Cellular Biology SB RAS, Novosibirsk, Russia, 630090., Maksimova YV; Novosibirsk State Medical University, Novosibirsk, Russia, 630090.; Novosibirsk Clinical City Hospital No. 1, Novosibirsk, Russia, 630090., Shorina AR; Novosibirsk Clinical City Hospital No. 1, Novosibirsk, Russia, 630090., Yudkin DV; Federal State Budgetary Research Center of Virology and Biotechnology 'VECTOR', Federal Service for Surveillance on Consumer Rights Protection and Human Well-being (FBRI SRC VB 'VECTOR', Rospotrebnadzor), Novosibirsk Region, Koltsovo, Russia, 630559.

Publikováno v: Molecular cytogenetics [Mol Cytogenet] 2021 Oct 04; Vol. 14 (1), pp. 47. Date of Electronic Publication: 2021 Oct 04.

Differential DNA Methylation of the IMMP2L Gene in Families with Maternally Inherited 7q31.1 Microdeletions is Associated with Intellectual Disability and Developmental Delay.

Autor: Vasilyev SA; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation., Skryabin NA; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation., Kashevarova AA; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation., Tolmacheva EN; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation., Savchenko RR; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation., Vasilyeva OY; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation., Lopatkina ME; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation., Zarubin AA; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation., Fishman VS; Institute of Cytology and Genetics, SB RAS, Novosibirsk, Russian Federation., Belyaeva EO; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation., Filippova MO; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation., Shorina AR; Novosibirsk City Clinical Hospital, Novosibirsk, Russian Federation., Maslennikov AB; Novosibirsk City Clinical Hospital, Novosibirsk, Russian Federation., Shestovskikh OL; City Perinatal Clinical Center, Omsk, Russian Federation., Gayner TA; Group of Companies 'Center of New Medical Technologies,', Novosibirsk, Russian Federation.; Institute of Chemical Biology and Fundamental Medicine, SB RAS, Novosibirsk, Russian Federation., Čulić V; Gynecology and Obstetrics Private Outpatient Clinic, Split, Croatia., Vulić R; Gynecology and Obstetrics Private Outpatient Clinic, Split, Croatia., Nazarenko LP; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation., Lebedev IN; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation.

Publikováno v: Cytogenetic and genome research [Cytogenet Genome Res] 2021; Vol. 161 (3-4), pp. 105-119. Date of Electronic Publication: 2021 Apr 13.

Induced pluripotent stem cell line, ICAGi001-A, derived from human skin fibroblasts of a patient with 2p25.3 deletion and 2p25.3-p23.3 inverted duplication.

Autor: Khabarova AA; Institute of Cytology and Genetics, SB RAS, Novosibirsk, Russia. Electronic address: anya.khabarova@gmail.com., Pristyazhnyuk IE; Institute of Cytology and Genetics, SB RAS, Novosibirsk, Russia., Nikitina TV; Research Institute of Medical Genetics, Tomsk NRMC, Tomsk, Russia., Gayner TA; Institute of Chemical Biology and Fundamental Medicine, SB RAS, Novosibirsk, Russia; Group of companies 'Center of new medical technologies', Novosibirsk, Russia., Torkhova NB; Research Institute of Medical Genetics, Tomsk NRMC, Tomsk, Russia., Skryabin NA; Research Institute of Medical Genetics, Tomsk NRMC, Tomsk, Russia., Kashevarova AA; Research Institute of Medical Genetics, Tomsk NRMC, Tomsk, Russia., Babushkina NP; Research Institute of Medical Genetics, Tomsk NRMC, Tomsk, Russia., Markova ZG; Research Centre for Medical Genetics, Moscow, Russia., Minzhenkova ME; Research Centre for Medical Genetics, Moscow, Russia., Nazarenko LP; Research Institute of Medical Genetics, Tomsk NRMC, Tomsk, Russia., Shilova NV; Research Centre for Medical Genetics, Moscow, Russia., Shorina AR; Clinical City Hospital №1, Novosibirsk, Russia., Lebedev IN; Research Institute of Medical Genetics, Tomsk NRMC, Tomsk, Russia., Serov OL; Institute of Cytology and Genetics, SB RAS, Novosibirsk, Russia.

Publikováno v: Stem cell research [Stem Cell Res] 2019 Jan; Vol. 34, pp. 101377. Date of Electronic Publication: 2018 Dec 18.

A Female Patient with FMR1 Premutation and Mosaic X Chromosome Aneuploidy and Two Sons with Intellectual Disability.

Autor: Galanina EM; Chromosome Pathology Group, Institute of Molecular and Cellular Biology, Novosibirsk, Russia.; Department of Medicine, Novosibirsk State University, Novosibirsk, Russia., Tulupov AA; International Tomography Center, SB RAS, Novosibirsk, Russia.; Department of Medicine, Novosibirsk State University, Novosibirsk, Russia., Lemskaya NA; Chromosome Pathology Group, Institute of Molecular and Cellular Biology, Novosibirsk, Russia., Korostyshevskaya AM; International Tomography Center, SB RAS, Novosibirsk, Russia., Maksimova YV; Novosibirsk State Medical University, Novosibirsk, Russia.; Novosibirsk State Regional Clinical Diagnostic Center, Novosibirsk, Russia., Shorina AR; Novosibirsk State Regional Clinical Diagnostic Center, Novosibirsk, Russia., Savelov AA; International Tomography Center, SB RAS, Novosibirsk, Russia., Sergeeva IG; Department of Medicine, Novosibirsk State University, Novosibirsk, Russia., Isanova ER; Department of Medicine, Novosibirsk State University, Novosibirsk, Russia., Grishchenko IV; Chromosome Pathology Group, Institute of Molecular and Cellular Biology, Novosibirsk, Russia.; Department of Medicine, Novosibirsk State University, Novosibirsk, Russia., Yudkin DV; Chromosome Pathology Group, Institute of Molecular and Cellular Biology, Novosibirsk, Russia.; Department of Medicine, Novosibirsk State University, Novosibirsk, Russia.

Publikováno v: Molecular syndromology [Mol Syndromol] 2017 Mar; Vol. 8 (2), pp. 110-114. Date of Electronic Publication: 2016 Dec 07.