Decreased TREC and KREC levels in newborns with trisomy 21

Authors: Andrey Marakhonov, Anna Mukhina, Elena Vlasova, Irina Efimova, Natalya Balinova, Yulia Rodina, Dmitry Pershin, Zhanna Markova, Marina Minzhenkova, Nadezhda Shilova, Dzhaina Mudaeva, Djamila Saydaeva, Taisiya Irbaieva, Svetlana Matulevich, Elena Belyashova, Grigoriy Yakubovskiy, Inna Tebieva, Yulia Gabisova, Murat Ikaev, Nataliya Irinina, Liya Nurgalieva, Elena Saifullina, Tatiana Belyaeva, Olga Romanova, Sergey Voronin, Rena Zinchenko, Anna Shcherbina, Sergey Kutsev

Source: Frontiers in Pediatrics, Vol 12 (2024)

Subject Terms: newborn screening, TREC, KREC, lymphopenia, Down syndrome, trisomy 21, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2024.1468635/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/5dfc78da418c415dbb00aa1672da4957

High carrier frequency of a nonsense p.Trp230* variant in HSD3B2 gene in Ossetians

Authors: Nina Makretskaya, Natalia Kalinchenko, Inna Tebieva, Sofya Ionova, Rena Zinchenko, Andrey Marakhonov, Anatoly Tiulpakov

Source: Frontiers in Endocrinology, Vol 14 (2023)

Subject Terms: CAH, real-time PCR, HSD3B2, deficiency of 3β-hydroxysteroid dehydrogenase, Ossetians, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2023.1146768/full; https://doaj.org/toc/1664-2392

Access URL: https://doaj.org/article/5e5c7612678946a68f9a3c87d1f9c23b

Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia–Alania

Authors: Nika Petrova, Inna Tebieva, Vitaly Kadyshev, Zalina Getoeva, Natalia Balinova, Andrey Marakhonov, Tatyana Vasilyeva, Evgeny Ginter, Sergey Kutsev, Rena Zinchenko

Source: PeerJ, Vol 11, p e14514 (2023)

Subject Terms: North Ossetia–Alania, GJB2, POU3F4, MYH14, MYO15A, Non-syndromic sensorineural hearing loss, Medicine, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://peerj.com/articles/14514.pdf; https://peerj.com/articles/14514/; https://doaj.org/toc/2167-8359

Access URL: https://doaj.org/article/ab45bd4b32a24214b6d57e47e6f6377c