Generation of two iPSC lines from patient with Mucopolysaccharidosis IV B type and autosomal recessive non-syndromic hearing loss 12.

Autor: Panchuk IO; FSBI «Research Centre for Medical Genetics», Moscow, Russian Federation. Electronic address: irina.panchuk42@gmail.com., Grigorieva OV; FSBI «Research Centre for Medical Genetics», Moscow, Russian Federation., Kondrateva EV; FSBI «Research Centre for Medical Genetics», Moscow, Russian Federation., Kurshakova EV; FSBI «Research Centre for Medical Genetics», Moscow, Russian Federation., Tabakov V; FSBI «Research Centre for Medical Genetics», Moscow, Russian Federation., Bychkov IO; FSBI «Research Centre for Medical Genetics», Moscow, Russian Federation., Zakharova E; FSBI «Research Centre for Medical Genetics», Moscow, Russian Federation., Orlova MD; FSBI «Research Centre for Medical Genetics», Moscow, Russian Federation., Voronina ES; FSBI «Research Centre for Medical Genetics», Moscow, Russian Federation., Pozhitnova VO; FSBI «Research Centre for Medical Genetics», Moscow, Russian Federation., Lavrov AV; FSBI «Research Centre for Medical Genetics», Moscow, Russian Federation., Smirnikhina SA; FSBI «Research Centre for Medical Genetics», Moscow, Russian Federation., Kutsev SI; FSBI «Research Centre for Medical Genetics», Moscow, Russian Federation.

Publikováno v: Stem cell research [Stem Cell Res] 2023 Sep; Vol. 71, pp. 103183. Date of Electronic Publication: 2023 Aug 15.

Mitochondrial DNA maintenance disorders in 102 patients from different parts of Russia: Mutational spectrum and phenotypes.

Autor: Bychkov IO; Research Centre for Medical Genetics, Russia. Electronic address: bychkov@med-gen.ru., Itkis YS; Research Centre for Medical Genetics, Russia., Tsygankova PG; Research Centre for Medical Genetics, Russia., Krylova TD; Research Centre for Medical Genetics, Russia., Mikhaylova SV; Russian Children's Hosp Med Genet Dept, Russia., Klyushnikov SA; Research Center of Neurology, Russia., Pechatnikova NL; Morozov Children's City Clin Hosp, Russia., Degtyareva AV; Kulakov Natl Med Res Ctr Obstet Gynecol & Perinat, Russia; Sechenov First Moscow State Medical University (Sechenovskiy University), Moscow, Russia., Nikolaeva EA; Veltishchev Research Clinical Institute of Pediatrics Pirogov Russian National Research Medical University, Russia., Seliverstov YA; Research Center of Neurology, Russia., Kurbatov SA; Semantic Hub, Russia; Medical center 'Zdorovii Rebenok' Ltd, Russia., Dadali EL; Research Centre for Medical Genetics, Russia., Rudenskaya GE; Research Centre for Medical Genetics, Russia., Illarioshkin SN; Research Center of Neurology, Russia., Zakharova EY; Research Centre for Medical Genetics, Russia.

Publikováno v: Mitochondrion [Mitochondrion] 2021 Mar; Vol. 57, pp. 205-212. Date of Electronic Publication: 2021 Jan 21.

Plasma FGF-21 and GDF-15 are elevated in different inherited metabolic diseases and are not diagnostic for mitochondrial disorders.

Autor: Tsygankova PG; Laboratory of Inherited Metabolic Diseases, Research Centre for Medical Genetics, Moscow, Russia.; Laboratory of DNA-Diagnostic, Research Centre for Medical Genetics, Moscow, Russia., Itkis YS; Laboratory of Inherited Metabolic Diseases, Research Centre for Medical Genetics, Moscow, Russia.; Laboratory of DNA-Diagnostic, Research Centre for Medical Genetics, Moscow, Russia., Krylova TD; Laboratory of Inherited Metabolic Diseases, Research Centre for Medical Genetics, Moscow, Russia.; Laboratory of DNA-Diagnostic, Research Centre for Medical Genetics, Moscow, Russia., Kurkina MV; Laboratory of Inherited Metabolic Diseases, Research Centre for Medical Genetics, Moscow, Russia.; Laboratory of DNA-Diagnostic, Research Centre for Medical Genetics, Moscow, Russia., Bychkov IO; Laboratory of Inherited Metabolic Diseases, Research Centre for Medical Genetics, Moscow, Russia.; Laboratory of DNA-Diagnostic, Research Centre for Medical Genetics, Moscow, Russia., Ilyushkina AA; Laboratory of Inherited Metabolic Diseases, Research Centre for Medical Genetics, Moscow, Russia.; Laboratory of DNA-Diagnostic, Research Centre for Medical Genetics, Moscow, Russia., Zabnenkova VV; Laboratory of Inherited Metabolic Diseases, Research Centre for Medical Genetics, Moscow, Russia.; Laboratory of DNA-Diagnostic, Research Centre for Medical Genetics, Moscow, Russia., Mikhaylova SV; Medical Genetics Department, Russian Children's Hospital, Moscow, Russia., Pechatnikova NL; Center for Orphan Diseases, Morozov Municipal Children's Hospital of Moscow City Public Health Department, Moscow, Russia., Sheremet NL; Department of Retina and Optic Nerve Diseases, Research Institute of Eye Diseases, Moscow, Russia., Zakharova EY; Laboratory of Inherited Metabolic Diseases, Research Centre for Medical Genetics, Moscow, Russia.; Laboratory of DNA-Diagnostic, Research Centre for Medical Genetics, Moscow, Russia.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2019 Sep; Vol. 42 (5), pp. 918-933. Date of Electronic Publication: 2019 Jul 24.

The Unique Spectrum of Mutations in Patients with Hereditary Tyrosinemia Type 1 in Different Regions of the Russian Federation.

Autor: Baydakova GV; Federal State Budgetary Scientific Institution 'Research Center for Medical Genetics', Moscow, Russia., Ivanova TA; Federal State Budgetary Scientific Institution 'Research Center for Medical Genetics', Moscow, Russia. breaking18@gmail.com., Mikhaylova SV; Russian Children's Clinical Hospital of the Ministry of Health of the Russian Federation, Moscow, Russia., Saydaeva DK; Perinatal Center, State Budgetary Institution Maternity Hospital, Grozny, The Chechen Republic, Russia., Dzhudinova LL; Perinatal Center, State Budgetary Institution Maternity Hospital, Grozny, The Chechen Republic, Russia., Akhlakova AI; Republican Center for Medical Genetics, Makhachkala, The Republic of Dagestan, Russia., Gamzatova AI; Republican Center for Medical Genetics, Makhachkala, The Republic of Dagestan, Russia., Bychkov IO; Federal State Budgetary Scientific Institution 'Research Center for Medical Genetics', Moscow, Russia., Zakharova EY; Federal State Budgetary Scientific Institution 'Research Center for Medical Genetics', Moscow, Russia.

Publikováno v: JIMD reports [JIMD Rep] 2019; Vol. 45, pp. 89-93. Date of Electronic Publication: 2018 Nov 11.