175 Very rare case of Noonan syndrome, type 2

Autor: VP Miroshnichenko, TD Degtayreva, Natalya Zhurkova, AA Pushkov, EN Basargina, Kirill Savostyanov, LA Gandaeva, OB Kondakova

Publikováno v: Abstracts.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::975f16de8e265d06298e95bd289729af
https://doi.org/10.1136/archdischild-2021-europaediatrics.175

P77 1P36 deletion syndrome in children with cardiomyopathy: two clinical cases

Autor: Kirill Savostyanov, Alexander Pakhomov, YV Derevianina, EN Basargina, VS Ermolenko, Natalya Zhurkova, Alexander Pushkov

Publikováno v: Posters.

Background and aims Syndrome deletion of chromosome region 1 p36 is a chromosome syndrome with multiple anomalies, congenital heart disease and mental retardation. Frequency of this syndrome is 1 in 5000 births. Rare variant deletion p36 is deletion

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6f8fe071189cadf668668e89ca637e6b
https://doi.org/10.1136/archdischild-2017-313273.165

Genetic landscape in Russian patients with familial left ventricular noncompaction.

Autor: Meshkov AN; National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Healthcare of the Russian Federation, Moscow, Russia.; National Medical Research Center for Cardiology of the Ministry of Healthcare of the Russian Federation, Moscow, Russia.; Hereditary Metabolic Diseases Laboratory, Research Centre for Medical Genetics, Moscow, Russia.; Department of General and Medical Genetics, Pirogov Russian National Research Medical University, Moscow, Russia., Myasnikov RP; National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Healthcare of the Russian Federation, Moscow, Russia., Kiseleva AV; National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Healthcare of the Russian Federation, Moscow, Russia., Kulikova OV; National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Healthcare of the Russian Federation, Moscow, Russia., Sotnikova EA; National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Healthcare of the Russian Federation, Moscow, Russia., Kudryavtseva MM; National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Healthcare of the Russian Federation, Moscow, Russia., Zharikova AA; National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Healthcare of the Russian Federation, Moscow, Russia.; Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, Moscow, Russia., Koretskiy SN; National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Healthcare of the Russian Federation, Moscow, Russia., Mershina EA; Medical Research and Educational Center, Lomonosov Moscow State University, Moscow, Russia., Ramensky VE; National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Healthcare of the Russian Federation, Moscow, Russia.; Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, Moscow, Russia., Zaicenoka M; Phystech School of Biological and Medical Physics, Moscow Institute of Physics and Technology, Dolgoprudny, Russia., Vyatkin YV; National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Healthcare of the Russian Federation, Moscow, Russia.; Department of Natural Sciences, Novosibirsk State University, Novosibirsk, Russia., Kharlap MS; National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Healthcare of the Russian Federation, Moscow, Russia., Nikityuk TG; National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Healthcare of the Russian Federation, Moscow, Russia., Sinitsyn VE; Medical Research and Educational Center, Lomonosov Moscow State University, Moscow, Russia., Divashuk MG; National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Healthcare of the Russian Federation, Moscow, Russia.; Laboratory of Applied Genomics and Crop Breeding, All-Russia Research Institute of Agricultural Biotechnology, Moscow, Russia., Kutsenko VA; National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Healthcare of the Russian Federation, Moscow, Russia.; Faculty of Mechanics and Mathematics, Lomonosov Moscow State University, Moscow, Russia., Basargina EN; National Medical Research Center for Children's Health, Moscow, Russia., Barskiy VI; National Medical Research Center for Children's Health, Moscow, Russia., Sdvigova NA; National Medical Research Center for Children's Health, Moscow, Russia., Skirko OP; National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Healthcare of the Russian Federation, Moscow, Russia., Efimova IA; National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Healthcare of the Russian Federation, Moscow, Russia., Pokrovskaya MS; National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Healthcare of the Russian Federation, Moscow, Russia., Drapkina OM; National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Healthcare of the Russian Federation, Moscow, Russia.

Publikováno v: Frontiers in cardiovascular medicine [Front Cardiovasc Med] 2023 May 24; Vol. 10, pp. 1205787. Date of Electronic Publication: 2023 May 24 (Print Publication: 2023).

[Effect of cardiovascular functional disorders on cerebral oxygenation in children].

Autor: Alekseeva EA, Aleksandrov AE, Sharkov SM, Basargina EN, Sugak AB, Ivanov AP

Publikováno v: Anesteziologiia i reanimatologiia [Anesteziol Reanimatol] 2014 Sep-Oct; Vol. 59 (5), pp. 45-7.

[Immediate and late results of combined treatment of dilatated cardiomyopathy in children].

Autor: Basargina EN, Belova NR

Publikováno v: Vestnik Rossiiskoi akademii meditsinskikh nauk [Vestn Ross Akad Med Nauk] 2008 (12), pp. 32-7.