Výsledky vyhledávání

[Dystrophin gene expression in patients with Duchenne muscular dystrophy after myoblast transplantation]

Autor: Ss, Shishkin, Sm, Terekhov, Tb, Krokhina, Ni, Shakhovskaia, An, Podobedova, Gf, Linnaia, Vi, Tarasov, Vi, Ovchinnikov, In, Krakhmaleva, Sf, Zakharov, Es, Ershova, Sa, Limborskaia, Tv, Pogoda, Ea, Zotikov, Rm, Kut Ina, Ma, Tarksh, Vladimir Sukhorukov, Nl, Gerasimova

Publikováno v: Europe PubMed Central

Based on originally designed technique of myoblast cultivation and in accordance with the approved by the Russian Ministry of Health "one muscle treatment" protocol of myoblast transplantation to the Duchenne muscular dystrophy patients, the first in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::9c5ea85bb1b50d39fb8b15aa9a1acbf2
https://pubmed.ncbi.nlm.nih.gov/11642111

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[Highly polymorphic regions of the genes for apolipoprotein B and angiotensin-converting enzyme in the Udmurt population]

Autor: Va, Spitsyn, Mv, Khort, Tv, Pogoda, Mi, Shadrina, Petr Slominsky, Sa, Limborskaia

Publikováno v: Europe PubMed Central

The hypervariable regions of the 3'-end of the apolipoprotein B gene (APOB3'-VNTR) and angiotensin converting enzyme gene (ACE), which had 10-15 alleles each, were studied in a sample from the Udmurt population by means of polymerase chain reaction (

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::16b6b953a5b22a944d8ce47dad0a9d87
http://europepmc.org/abstract/med/9162705

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Akademický článek

[Clinical and molecular genetic features of 3 family cases of the central precocious puberty, due to MKRN3 gene defects].

Autor: Zubkova NA; Endocrinology Research Centre., Kolodkina AA; Endocrinology Research Centre., Makretskaya NA; Endocrinology Research Centre., Okorokov PL; Endocrinology Research Centre., Pogoda TV; Endocrinology Research Centre., Vasiliev EV; Endocrinology Research Centre., Petrov VM; Endocrinology Research Centre., Tiulpakov AN; Endocrinology Research Centre; Research Centre for Medical Genetics.

Publikováno v: Problemy endokrinologii [Probl Endokrinol (Mosk)] 2021 May 11; Vol. 67 (3), pp. 55-61. Date of Electronic Publication: 2021 May 11.

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Akademický článek

[Clinical and molecular genetic features of cases of isolated hypogonadotropic hypogonadism, associated with defects in GNRHR genes].

Autor: Makretskaya NA; Endocrinology Research Centre., Gerasimova MV; Center of Modern Pediatrics., Vasilyev EV; Endocrinology Research Centre., Zubkova NA; Endocrinology Research Centre., Kalinchenko NY; Endocrinology Research Centre., Kolodkina AA; Endocrinology Research Centre., Petrov VM; Endocrinology Research Centre., Pogoda TV; Endocrinology Research Centre., Panova AV; Endocrinology Research Centre., Frolova EB; National Medical Research Center for Children's., Poliakov AV; Research Centre for Medical Genetics., Tiulpakov AN; Research Centre for Medical Genetics.

Publikováno v: Problemy endokrinologii [Probl Endokrinol (Mosk)] 2021 May 01; Vol. 67 (3), pp. 62-67. Date of Electronic Publication: 2021 May 01.

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Akademický článek

[Diagnostic algorithm for autosomal recessive ataxia].

Autor: Nuzhnyi EP; Research Center of Neurology, Moscow, Russia., Abramycheva NY; Research Center of Neurology, Moscow, Russia., Klyushnikov SA; Research Center of Neurology, Moscow, Russia., Seliverstov YA; Research Center of Neurology, Moscow, Russia., Vetchinova AS; Research Center of Neurology, Moscow, Russia., Pogoda TV; Research Center of Neurology, Moscow, Russia., Ershova MV; Research Center of Neurology, Moscow, Russia., Fedotova EY; Research Center of Neurology, Moscow, Russia., Illarioshkin SN; Research Center of Neurology, Moscow, Russia.

Publikováno v: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova [Zh Nevrol Psikhiatr Im S S Korsakova] 2019; Vol. 119 (9), pp. 74-82.

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