Zobrazeno 1 - 7
of 7
pro vyhledávání: '"S. V. Bochenkov"'
Autor:
A. M. Pivovarova, M. Yu. Dorofeeva, A. R. Zabrodina, S. V. Bochenkov, A. V. Grigoryeva, Z. K. Gorchkhanova, V. R. Voronina
Publikováno v:
Русский журнал детской неврологии, Vol 19, Iss 2, Pp 8-19 (2024)
Neurofibromatosis type 1 is a multisystem genetic disorder associated with an increased risk of benign and malignant tumors due to mutations in the NF1 gene. Clinical manifestations of the disease vary and depend on the patient’s age. One of the mo
Externí odkaz:
https://doaj.org/article/b4e6033da53041e09b4872bd981b78d1
Publikováno v:
Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 68:99-104
The term «homocystinuria» combines a number of genetically determined nosological forms caused by defects of the metabolism of sulfur-containing amino acids (methionine, homocysteine), cobalamin and folate. The group of these diseases includes «cl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::feb2ab6370fdc90c5afe145cb67cd4c8
https://doi.org/10.21508/1027-4065-2023-68-2-99-104
https://doi.org/10.21508/1027-4065-2023-68-2-99-104
Publikováno v:
Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 67:113-122
Angelman syndrome is a rare neurogenetic disease caused by the loss of the function of the maternal allele of the UBE3A gene on chromosome 15 (site 15q11.2–q13) and is characterized by severe mental retardation, lack of speech, epilepsy, microcepha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a2706fa184eb53306992d241fa77545f
https://doi.org/10.21508/1027-4065-2022-67-6-113-122
https://doi.org/10.21508/1027-4065-2022-67-6-113-122
Publikováno v:
Rossijskij Vestnik Perinatologii i Pediatrii, Vol 66, Iss 6, Pp 63-70 (2022)
Angelman syndrome is a genetic disorder characterized by mental retardation and severe speech delay, movement disorders and ataxia, dysmorphic features, and behavioral disorders. Angelman syndrome is caused by the loss of the 15q11.2-q13 region of ch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b4fa992650c07c452b1ecb64a943de9
https://www.ped-perinatology.ru/jour/article/view/1531
https://www.ped-perinatology.ru/jour/article/view/1531
Autor:
E. A. Nikolaeva, S. V. Bochenkov, I. S. Dantsev, R. G. Kuramagomedova, M. A. Blokhina, A. R. Zabrodina, M. N. Kharabadze
Publikováno v:
Rossijskij Vestnik Perinatologii i Pediatrii, Vol 64, Iss 5, Pp 21-26 (2019)
Purpose: to analyze the structure of hereditary pathology and the results of genetic studies in children in a specialized clinic.Results.1045 children from 79 regions of the Russian Federation were examined and treated in the pediatric department of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d24ecbe0be1aa461a9ce5bcdae213366
https://doi.org/10.21508/1027-4065-2019-64-5-21-26
https://doi.org/10.21508/1027-4065-2019-64-5-21-26
Autor:
A. N. Semyachkina, E. A. Nikolaeva, E. Yu. Zakharova, M. N. Kharabadze, Yu. I. Davydova, S. V. Bochenkov, R. G. Kuramagomedova
Publikováno v:
Rossijskij Vestnik Perinatologii i Pediatrii, Vol 63, Iss 1, Pp 71-77 (2018)
The article is devoted to the rare disease of the lysosomal storage disease group – Fabry’s disease. The disease is associated with the sphingolipids dysmetabolism, is caused by the accumulation of the globotriosylceramide (Gb 3 ) and othersphing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8da4d9f3a764d574e4349bbc941c2b3
https://doi.org/10.21508/1027-4065-2018-63-1-71-77
https://doi.org/10.21508/1027-4065-2018-63-1-71-77
Autor:
A. N. Semyachkina, E. A. Bliznets, V. Yu. Voinova, S. V. Bochenkov, M. N. Kharabadze, E. A. Nikolaeva, A. V. Polyakov
Publikováno v:
Rossijskij Vestnik Perinatologii i Pediatrii, Vol 61, Iss 5, Pp 47-51 (2016)
The paper deals with a rare monogenic connective tissue disease from a group of fibrillinopathies with autosomal dominant inheritance — Beals syndrome caused by a mutation in the FBN2 gene. Attention is drawn to the high phenotypic similarity of th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab430cae15abfd571549ad4ad58cb267
https://www.ped-perinatology.ru/jour/article/view/379
https://www.ped-perinatology.ru/jour/article/view/379