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Molecular diagnosis of tuberous sclerosis complex in fetuses and infants: an institutional case series.

Autor: Bolshakova AS; Department of Clinical Genetics, Institute of Reproductive Genetics, FSBI National Medical Research Center for Obstetrics Gynecology and Perinatology named after Academician V I Kulakov, Moscow, Russian Federation., Maslennikov DN; Laboratory of Genomic Data Analysis, Institute of Reproductive Genetics, FSBI National Medical Research Center for Obstetrics Gynecology and Perinatology named after Academician V I Kulakov, Moscow, Russian Federation., Shubina J; Laboratory of Genomic Data Analysis, Institute of Reproductive Genetics, FSBI National Medical Research Center for Obstetrics Gynecology and Perinatology named after Academician V I Kulakov, Moscow, Russian Federation., Bystritskiy AA; Laboratory of Molecular Genetics Methods, Institute of Reproductive Genetics, FSBI National Medical Research Center for Obstetrics Gynecology and Perinatology named after Academician V I Kulakov, Moscow, Russian Federation a_bystritskiy@oparina4.ru., Tolmacheva ER; Laboratory of the Analysis of Genomic Data, Institute of Reproductive Genetics, FSBI National Medical Research Center for Obstetrics Gynecology and Perinatology named after Academician V I Kulakov, Moscow, Russian Federation., Mukosey IS; Laboratory of Molecular Genetics Methods, Institute of Reproductive Genetics, FSBI National Medical Research Center for Obstetrics Gynecology and Perinatology named after Academician V I Kulakov, Moscow, Russian Federation., Kochetkova TO; Laboratory of Molecular Genetics Methods, Institute of Reproductive Genetics, FSBI National Medical Research Center for Obstetrics Gynecology and Perinatology named after Academician V I Kulakov, Moscow, Russian Federation., Vasiliev GS; Department of Clinical Genetics, Institute of Reproductive Genetics, FSBI National Medical Research Center for Obstetrics Gynecology and Perinatology named after Academician V I Kulakov, Moscow, Russian Federation., Atapina EE; Laboratory of Molecular Genetics Methods, Institute of Reproductive Genetics, FSBI National Medical Research Center for Obstetrics Gynecology and Perinatology named after Academician V I Kulakov, Moscow, Russian Federation., Sadelov IO; Laboratory of Genomic Data Analysis, Institute of Reproductive Genetics, FSBI National Medical Research Center for Obstetrics Gynecology and Perinatology named after Academician V I Kulakov, Moscow, Russian Federation., Zaretskaya NV; Department of Clinical Genetics, Institute of Reproductive Genetics, FSBI National Medical Research Center for Obstetrics Gynecology and Perinatology named after Academician V I Kulakov, Moscow, Russian Federation., Barkov IY; Laboratory of Prenatal DNA Screening, Institute of Reproductive Genetics, FSBI National Medical Research Center for Obstetrics Gynecology and Perinatology named after Academician V I Kulakov, Moscow, Russian Federation., Degtyarev DN; FSBI National Medical Research Center for Obstetrics Gynecology and Perinatology named after Academician V I Kulakov, Moscow, Russian Federation., Trofimov DY; Institute of Reproductive Genetics, FSBI National Medical Research Center for Obstetrics Gynecology and Perinatology named after Academician V I Kulakov, Moscow, Russian Federation.

Publikováno v: Journal of clinical pathology [J Clin Pathol] 2024 Oct 20; Vol. 77 (11), pp. 756-760. Date of Electronic Publication: 2024 Oct 20.

Efficacy of bowel ultrasound to diagnose necrotizing enterocolitis in extremely low birthweight infants.

Autor: Ionov OV; National Medical Research Center for Obstetrics, Gynecology and Perinatology named after academician V.I. Kulakov of the Ministry of Health of the Russian Federation, Moscow, Russia.; Federal State Autonomous Educational Institution of Higher Education I.M. Sechenov First Moscow State Medical University of the Ministry of Healthcare of the Russian Federation (Sechenovskiy University), Moscow, Russia.; GBUZ MO 'Research Clinical Institute of Childhood Ministry of Health of the Moscow Region', Moscow, Russia., Sharafutdinova DR; National Medical Research Center for Obstetrics, Gynecology and Perinatology named after academician V.I. Kulakov of the Ministry of Health of the Russian Federation, Moscow, Russia.; Federal State Autonomous Educational Institution of Higher Education I.M. Sechenov First Moscow State Medical University of the Ministry of Healthcare of the Russian Federation (Sechenovskiy University), Moscow, Russia., Sugak AB; National Medical Research Center for Obstetrics, Gynecology and Perinatology named after academician V.I. Kulakov of the Ministry of Health of the Russian Federation, Moscow, Russia., Filippova EA; National Medical Research Center for Obstetrics, Gynecology and Perinatology named after academician V.I. Kulakov of the Ministry of Health of the Russian Federation, Moscow, Russia.; Russian Medical Academy of Postgraduate Education of the Ministry of Health of the Russian Federation, Moscow, Russia., Balashova EN; National Medical Research Center for Obstetrics, Gynecology and Perinatology named after academician V.I. Kulakov of the Ministry of Health of the Russian Federation, Moscow, Russia., Kirtbaya AR; National Medical Research Center for Obstetrics, Gynecology and Perinatology named after academician V.I. Kulakov of the Ministry of Health of the Russian Federation, Moscow, Russia.; Federal State Autonomous Educational Institution of Higher Education I.M. Sechenov First Moscow State Medical University of the Ministry of Healthcare of the Russian Federation (Sechenovskiy University), Moscow, Russia., Karasova LK; National Medical Research Center for Obstetrics, Gynecology and Perinatology named after academician V.I. Kulakov of the Ministry of Health of the Russian Federation, Moscow, Russia., Dorofeeva EI; National Medical Research Center for Obstetrics, Gynecology and Perinatology named after academician V.I. Kulakov of the Ministry of Health of the Russian Federation, Moscow, Russia., Podurovskaya YL; National Medical Research Center for Obstetrics, Gynecology and Perinatology named after academician V.I. Kulakov of the Ministry of Health of the Russian Federation, Moscow, Russia., Yarotskaya EL; National Medical Research Center for Obstetrics, Gynecology and Perinatology named after academician V.I. Kulakov of the Ministry of Health of the Russian Federation, Moscow, Russia., Zubkov VV; National Medical Research Center for Obstetrics, Gynecology and Perinatology named after academician V.I. Kulakov of the Ministry of Health of the Russian Federation, Moscow, Russia.; Federal State Autonomous Educational Institution of Higher Education I.M. Sechenov First Moscow State Medical University of the Ministry of Healthcare of the Russian Federation (Sechenovskiy University), Moscow, Russia., Degtyarev DN; National Medical Research Center for Obstetrics, Gynecology and Perinatology named after academician V.I. Kulakov of the Ministry of Health of the Russian Federation, Moscow, Russia.; Federal State Autonomous Educational Institution of Higher Education I.M. Sechenov First Moscow State Medical University of the Ministry of Healthcare of the Russian Federation (Sechenovskiy University), Moscow, Russia., Donn SM; Division of Neonatal-Perinatal Medicine, Department of Pediatrics, C.S. Mott Children's Hospital, Michigan Medicine, University of Michigan, Ann Arbor, MI, USA.

Publikováno v: Journal of neonatal-perinatal medicine [J Neonatal Perinatal Med] 2024; Vol. 17 (4), pp. 527-534.

Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients.

Autor: Degtyareva AV; Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Moscow, Russia.; Sechenov First Moscow State Medical University, Moscow, Russia., Proshlyakova TY; Research Centre for Medical Genetics, Moscow, Russia., Gautier MS; Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Moscow, Russia., Degtyarev DN; Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Moscow, Russia.; Sechenov First Moscow State Medical University, Moscow, Russia., Kamenets EA; Research Centre for Medical Genetics, Moscow, Russia., Baydakova GV; Research Centre for Medical Genetics, Moscow, Russia., Rebrikov DV; Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Moscow, Russia. ncagip4@gmail.com.; Pirogov Russian National Research Medical University, Moscow, Russia. ncagip4@gmail.com., Zakharova EY; Research Centre for Medical Genetics, Moscow, Russia.

Publikováno v: BMC medical genetics [BMC Med Genet] 2019 Jul 11; Vol. 20 (1), pp. 123. Date of Electronic Publication: 2019 Jul 11.

Investigation of urine proteome of preterm newborns with respiratory pathologies.

Autor: Starodubtseva NL; V. I. Kulakov Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Healthcare of the Russian Federation, Moscow, Russia; Moscow Institute of Physics and Technology, Moscow, Russia., Kononikhin AS; V. I. Kulakov Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Healthcare of the Russian Federation, Moscow, Russia; V.L. Talrose Institute for Energy Problems of Chemical Physics, Russian Academy of Sciences, Leninskij pr. 38 k.2, 119334 Moscow, Russia; Moscow Institute of Physics and Technology, Moscow, Russia., Bugrova AE; V. I. Kulakov Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Healthcare of the Russian Federation, Moscow, Russia; Emanuel Institute for Biochemical Physics, Russian Academy of Sciences, Moscow, Russia., Chagovets V; V. I. Kulakov Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Healthcare of the Russian Federation, Moscow, Russia., Indeykina M; Emanuel Institute for Biochemical Physics, Russian Academy of Sciences, Moscow, Russia; V.L. Talrose Institute for Energy Problems of Chemical Physics, Russian Academy of Sciences, Leninskij pr. 38 k.2, 119334 Moscow, Russia., Krokhina KN; V. I. Kulakov Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Healthcare of the Russian Federation, Moscow, Russia., Nikitina IV; V. I. Kulakov Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Healthcare of the Russian Federation, Moscow, Russia., Kostyukevich YI; Moscow Institute of Physics and Technology, Moscow, Russia; Emanuel Institute for Biochemical Physics, Russian Academy of Sciences, Moscow, Russia; V.L. Talrose Institute for Energy Problems of Chemical Physics, Russian Academy of Sciences, Leninskij pr. 38 k.2, 119334 Moscow, Russia., Popov IA; V. I. Kulakov Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Healthcare of the Russian Federation, Moscow, Russia; Moscow Institute of Physics and Technology, Moscow, Russia; Emanuel Institute for Biochemical Physics, Russian Academy of Sciences, Moscow, Russia; V.L. Talrose Institute for Energy Problems of Chemical Physics, Russian Academy of Sciences, Leninskij pr. 38 k.2, 119334 Moscow, Russia., Larina IM; Institute of Biomedical Problems - Russian Federation State Scientific Research Center, Russian Academy of Sciences, Moscow, Russia; Moscow Institute of Physics and Technology, Moscow, Russia., Timofeeva LA; V. I. Kulakov Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Healthcare of the Russian Federation, Moscow, Russia., Frankevich VE; V. I. Kulakov Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Healthcare of the Russian Federation, Moscow, Russia., Ionov OV; V. I. Kulakov Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Healthcare of the Russian Federation, Moscow, Russia., Degtyarev DN; V. I. Kulakov Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Healthcare of the Russian Federation, Moscow, Russia., Nikolaev EN; Moscow Institute of Physics and Technology, Moscow, Russia; Emanuel Institute for Biochemical Physics, Russian Academy of Sciences, Moscow, Russia; V.L. Talrose Institute for Energy Problems of Chemical Physics, Russian Academy of Sciences, Leninskij pr. 38 k.2, 119334 Moscow, Russia. Electronic address: ennikolaev@rambler.ru., Sukhikh GT; V. I. Kulakov Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Healthcare of the Russian Federation, Moscow, Russia.

Publikováno v: Journal of proteomics [J Proteomics] 2016 Oct 21; Vol. 149, pp. 31-37. Date of Electronic Publication: 2016 Jun 14.