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A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication.

Autor: Karamysheva TV; Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences (SB RAS), Novosibirsk, Russia.; Department of Genetic Technologies, Novosibirsk State University, Novosibirsk, Russia., Lebedev IN; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia.; Department of Medical Genetics, Siberian State Medical University, Tomsk, Russia., Minaycheva LI; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Nazarenko LP; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia.; Department of Medical Genetics, Siberian State Medical University, Tomsk, Russia., Kashevarova AA; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Fedotov DA; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Skryabin NA; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Lopatkina ME; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Cheremnykh AD; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Fonova EA; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia.; Department of Medical Genetics, Siberian State Medical University, Tomsk, Russia., Nikitina TV; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Sazhenova EA; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Skleimova MM; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Kolesnikov NA; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Drozdov GV; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Yakovleva YS; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia.; Department of Medical Genetics, Siberian State Medical University, Tomsk, Russia., Seitova GN; Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Orishchenko KE; Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences (SB RAS), Novosibirsk, Russia.; Department of Genetic Technologies, Novosibirsk State University, Novosibirsk, Russia., Rubtsov NB; Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences (SB RAS), Novosibirsk, Russia.; Department of Genetic Technologies, Novosibirsk State University, Novosibirsk, Russia.

Publikováno v: Frontiers in genetics [Front Genet] 2024 Mar 11; Vol. 15, pp. 1331066. Date of Electronic Publication: 2024 Mar 11 (Print Publication: 2024).

Establishment of an induced pluripotent stem cell line (ICGi025-A) from fibroblasts of a patient with 46,XY,r(8)/45,XY,-8 mosaicism.

Autor: Gridina MM; Institute of Cytology and Genetics, SB RAS, Novosibirsk, Russia. Electronic address: gridinam@gmail.com., Nikitina TV; Research Institute of Medical Genetics, Tomsk NRMC, Tomsk, Russia., Orlova PA; Institute of Cytology and Genetics, SB RAS, Novosibirsk, Russia., Minina JM; Institute of Cytology and Genetics, SB RAS, Novosibirsk, Russia., Kashevarova AA; Research Institute of Medical Genetics, Tomsk NRMC, Tomsk, Russia., Yakovleva YS; Research Institute of Medical Genetics, Tomsk NRMC, Tomsk, Russia; Siberian State Medical University, Tomsk, Russia., Lopatkina ME; Research Institute of Medical Genetics, Tomsk NRMC, Tomsk, Russia., Vasilyev SA; Research Institute of Medical Genetics, Tomsk NRMC, Tomsk, Russia., Fedotov DA; Research Institute of Medical Genetics, Tomsk NRMC, Tomsk, Russia; Siberian State Medical University, Tomsk, Russia., Mikhailik LI; Regional Clinical Center for Specialized Medical Care, Vladivostok, Russia., Nazarenko LP; Research Institute of Medical Genetics, Tomsk NRMC, Tomsk, Russia; Siberian State Medical University, Tomsk, Russia., Lebedev IN; Research Institute of Medical Genetics, Tomsk NRMC, Tomsk, Russia; Siberian State Medical University, Tomsk, Russia., Serov OL; Institute of Cytology and Genetics, SB RAS, Novosibirsk, Russia.

Publikováno v: Stem cell research [Stem Cell Res] 2020 Dec; Vol. 49, pp. 102024. Date of Electronic Publication: 2020 Oct 02.

Generation of two iPSC lines (IMGTi001-A and IMGTi001-B) from human skin fibroblasts with ring chromosome 22.

Autor: Nikitina TV; Research Institute of Medical Genetics, Tomsk NRMC, Tomsk, Russia. Electronic address: t.nikitina@medgenetics.ru., Menzorov AG; Institute of Cytology and Genetics, SB RAS, Novosibirsk, Russia; Novosibirsk State University, Novosibirsk, Russia., Kashevarova AA; Research Institute of Medical Genetics, Tomsk NRMC, Tomsk, Russia., Gridina MM; Institute of Cytology and Genetics, SB RAS, Novosibirsk, Russia., Khabarova AA; Institute of Cytology and Genetics, SB RAS, Novosibirsk, Russia., Yakovleva YS; Research Institute of Medical Genetics, Tomsk NRMC, Tomsk, Russia., Lopatkina ME; Research Institute of Medical Genetics, Tomsk NRMC, Tomsk, Russia., Kizilova EA; Institute of Cytology and Genetics, SB RAS, Novosibirsk, Russia., Vasilyev SA; Research Institute of Medical Genetics, Tomsk NRMC, Tomsk, Russia., Serov OL; Institute of Cytology and Genetics, SB RAS, Novosibirsk, Russia; Novosibirsk State University, Novosibirsk, Russia., Lebedev IN; Research Institute of Medical Genetics, Tomsk NRMC, Tomsk, Russia.

Publikováno v: Stem cell research [Stem Cell Res] 2018 Aug; Vol. 31, pp. 244-248. Date of Electronic Publication: 2018 Aug 16.

[Clinical and genetic analysis of idiopathic intellectual disability based on array comparative genomic hybridization].

Autor: Kashevarova AA; Nauchno-issledovatel'skiĭ institut meditsinskoĭ genetiki Sibirskogo otdeleniia RAMN, Tomsk., Skryabin NA, Cheremnykh AD, Tolmacheva EN, Sazhenova EA, Salyukova OA, Chechetkina NN, Didenko LI, Sukhanova NN, Yakovleva YS, Torkhova NB, Nazarenko LP, Magini P, Graziano C, Romeo G, Lebedev IN

Publikováno v: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova [Zh Nevrol Psikhiatr Im S S Korsakova] 2013; Vol. 113 (9), pp. 70-4.