Delineation of the Genetic Architecture and Clinical Polymorphism of 3q29 Duplication Syndrome: A Review of the Literature and a Report of Two Novel Patients With Single-Gene BDH1 Duplications.

Autor: Kashevarova AA; Laboratory of Cytogenetics, Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Lopatkina ME; Laboratory of Ontogenetics, Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Vasilyeva OY; Laboratory of Cytogenetics, Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Fedotov DA; Laboratory of Ontogenetics, Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Lobanov AD; Laboratory of Ontogenetics, Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Fonova EA; Laboratory of Ontogenetics, Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Zhalsanova IZ; Laboratory of Genomics of Orphan Diseases, Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Zarubin AA; Laboratory of Population Genetics, Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Salyukova OA; Medical Genetic Center (Genetic Clinic), Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Belyaeva EO; Laboratory of Ontogenetics, Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Petrova VV; Medical Genetic Center (Genetic Clinic), Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Ravzhaeva EG; Medical Genetic Center (Genetic Clinic), Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Agafonova AA; Medical Genetic Center (Genetic Clinic), Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Cheremnykh AD; Medical Genetic Center (Genetic Clinic), Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Torkhova NB; Medical Genetic Center (Genetic Clinic), Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Vovk SL; Medical Genetic Center (Genetic Clinic), Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia., Lebedev IN; Laboratory of Ontogenetics, Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia.

Publikováno v: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2025 Jan; Vol. 13 (1), pp. e70047.

Analysis of mutations spectrum in the ATP7B gene in patients with Wilson disease using massively parallel sequencing.

Autor: Sivtsev AA; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Science., Zhalsanova IZ; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Science., Postrigan AE; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Science., Fonova EA; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Science., Vasilyeva OY; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Science., Zarubin AA; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Science., Minaicheva LI; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Science., Agafonova AA; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Science., Petrova VV; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Science., Ravzhaeva EG; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Science., Salyukova OA; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Science., Skryabin NA; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Science.

Publikováno v: Klinicheskaia laboratornaia diagnostika [Klin Lab Diagn] 2022 Apr 17; Vol. 67 (4), pp. 250-256.