Zobrazeno 1 - 10
of 315
pro vyhledávání: '"single-gene disorders"'
Autor:
Qinlin Huang, Juan Wen, Hongyun Zhang, Yanling Teng, Wen Zhang, Huimin Zhu, Desheng Liang, Lingqian Wu, Zhuo Li
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-12 (2024)
Abstract Background This study aimed to screen southern and southwestern Chinese individuals using expanded carrier screening (ECS), which explores the carrier status of recessively inherited diseases in southern and southwestern China, evaluates the
Externí odkaz:
https://doaj.org/article/6862613dd1a843ef91254a2c3db1d6d8
Autor:
Chih-Ping Chen
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 63, Iss 1, Pp 19-21 (2024)
Fetal megacystis has been reported to be associated with chromosomal abnormalities, megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), obstructive uropathy, prune belly syndrome, cloacal anomalies, limb-body wall complex, amniotic ban
Externí odkaz:
https://doaj.org/article/681dbecfa326466ca156dcaf0de70ac9
Akademický článek
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Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Non-invasive prenatal diagnosis for single-gene disorders (NIPD) is still in development and deserves further study. The advent of next-generation sequencing technology significantly improved the detection of multiple mutations for non-invasive prena
Externí odkaz:
https://doaj.org/article/5a2ea5a51dcc4fbfb7bb1bc96fd935b9
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 59, Iss 4, Pp 489-495 (2020)
Preimplantation genetic testing for aneuploidies (PGT-A) and PGT for monogenic disorders (PGT-M) have currently been used widely, aiming to improve IVF outcomes. Although with many years of unsatisfactory results, PGT-A has been revived because new t
Externí odkaz:
https://doaj.org/article/5ed5acfb1e454a13bfb4be086fef4f84
Autor:
Olena Fedota, Iurii Sadovnychenko, Mykola Hryshchenko, Kostiantyn Tyshchenko, Yana Hryshchenko
Publikováno v:
Актуальні проблеми сучасної медицини, Vol 3, Pp 20-27 (2019)
The spectrum and prevalence of genetic pathology among the population of a certain region are determined by the founder effect and microevolution factors and, therefore, are not always comparable in different countries. The study of these indicators
Externí odkaz:
https://doaj.org/article/06e12aaabf1841da836c00b83b95da11
Autor:
Meng-Meng Duan, Hua-Jun Zheng
Publikováno v:
Reproductive and Developmental Medicine, Vol 3, Iss 4, Pp 235-242 (2019)
Objective: Screening variants underlying the single-gene disorder in the general population can help reduce the incidences of birth defects. To determine the most prevalent pathogenic variants causing autosomal recessive diseases, we investigated the
Externí odkaz:
https://doaj.org/article/52a0573d6cf94382baaba9cb2e7f83f3
Autor:
Xinyao Zhou, Jia Zhou, Xing Wei, Ruen Yao, Yingjun Yang, Linbei Deng, Gang Zou, Xietong Wang, Yaping Yang, Tao Duan, Jian Wang, Luming Sun
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
The purpose of the study was to use exome sequencing (ES) to study the contribution of single-gene disorders to recurrent non-immune hydrops fetalis (NIHF) and retrospectively evaluate the value of genetic diagnosis on prenatal management and pregnan
Externí odkaz:
https://doaj.org/article/ebd4b3e9d93c49678dcd679d968172bd
Akademický článek
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Akademický článek
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