Zobrazeno 1 - 10
of 1 956
pro vyhledávání: '"ANEUPLOIDIES"'
Autor:
Maria Longo, Ermanno Greco, Ilaria Listorti, Maria Teresa Varricchio, Katerina Litwicka, Cristiana Arrivi, Cecilia Mencacci, Pierfrancesco Greco
Publikováno v:
Gynecological Endocrinology, Vol 40, Iss 1 (2024)
Background Telomeres maintain chromosome stability, while telomerase counteracts their progressive shortening. Telomere length varies between cell types, with leukocyte telomere length (LTL) decreasing with age. Reduced telomerase activity has been l
Externí odkaz:
https://doaj.org/article/270433bdcd2243238add49f7cf468497
Autor:
Elena Evelina STOICA, Laurentiu Camil BOHILTEA, Delia-Maria Gradinaru-FOMETESCU, Monica Mihaela CIRSTOIU
Publikováno v:
Modern Medicine, Vol 31, Iss 2, Pp 187-190 (2024)
Non-invasive prenatal testing (NIPT), since its introduction in 2011, has revolutionized prenatal screening, becoming widely used globally and replacing traditional screening methods in developed countries. The accuracy of NIPT in detecting aneuploid
Externí odkaz:
https://doaj.org/article/7b4455f8b9084622a5c6775a0dd23eee
Publikováno v:
BMC Pediatrics, Vol 24, Iss 1, Pp 1-16 (2024)
Abstract Background The diagnosis of supernumerary X & Y chromosome variations has increased following the implementation of genetic testing in pediatric practice. Empirical evidence suggests that the delivery of the diagnosis has a lasting impact on
Externí odkaz:
https://doaj.org/article/78f22bdfd6654a1c8cbe7f476be9442f
Autor:
Hyunjin Kim, Ji Eun Park, Kyung Min Kang, Hee Yeon Jang, Minyeon Go, So Hyun Yang, Jong Chul Kim, Seo Young Lim, Dong Hyun Cha, Jungah Choi, Sung Han Shim
Publikováno v:
BMC Pregnancy and Childbirth, Vol 24, Iss 1, Pp 1-9 (2024)
Abstract Background To evaluate the clinical significance of noninvasive prenatal testing (NIPT) for detecting fetal sex chromosome aneuploidies (SCAs) in Korean pregnant women. Methods We retrospectively analyzed NIPT data from 9,176 women with sing
Externí odkaz:
https://doaj.org/article/6cbd8b5b2e88430cbbd7a1b4bc7c20fc
Autor:
Misbah Iqbal Hanif, Qaisar Mansoor, Afsheen Arif, Erum Shoeb, Muhammad Ismail, Ayesha Khan, Syed Ajaz Ahmed
Publikováno v:
Liaquat National Journal of Primary Care, Vol 5, Iss 3, Pp 155-159 (2023)
Background: Genetic causes of miscarriages have been extensively reported and studied in almost half of the first-trimester pregnancy losses, for that reason genetic investigations of the products of conceptions (POCs) are crucial to help identify p
Externí odkaz:
https://doaj.org/article/1b90916ed002402793da80b0de9753a8
Autor:
Yanqiu Liu, Shengju Hao, Xueqin Guo, Linlin Fan, Zhihong Qiao, Yaoshen Wang, Xiaoli Wang, Jianfen man, Lina Wang, Xiaoming Wei, Huanhuan Peng, Zhiyu Peng, Yan Sun, Lijie Song
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-9 (2023)
Abstract Background Low-pass genome sequencing (LP GS) has shown distinct advantages over traditional methods for the detection of mosaicism. However, no study has systematically evaluated the accuracy of LP GS in the detection of mosaic aneuploidies
Externí odkaz:
https://doaj.org/article/7532e7768835453c8d80315189966453
Publikováno v:
Molecular Cytogenetics, Vol 16, Iss 1, Pp 1-12 (2023)
Abstract Background Many clinical studies based on spontaneous pregnancies (SPs) have demonstrated the superiority of non-invasive prenatal testing (NIPT), and the question of whether this technology is suitable for offspring conceived by assisted re
Externí odkaz:
https://doaj.org/article/e6962b225c114f16a53aa12d65e3ea3e
Autor:
Erica Soster, John Tynan, Clare Gibbons, Wendy Meschino, Jenna Wardrop, Eyad Almasri, Stuart Schwartz, Graham McLennan
Publikováno v:
Molecular Cytogenetics, Vol 16, Iss 1, Pp 1-12 (2023)
Abstract Background Noninvasive prenatal testing (NIPT) allows for screening of fetal aneuploidy and copy number variants (CNVs) from cell-free DNA (cfDNA) in maternal plasma. Professional societies have not yet embraced NIPT for fetal CNVs, citing a
Externí odkaz:
https://doaj.org/article/8bbb53f309e648bab641ae0bcbbe991b
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Autor:
Mette Viuff, Anne Skakkebæk, Emma B. Johannsen, Simon Chang, Steen Bønlykke Pedersen, Katrine Meyer Lauritsen, Mette Glavind Bülow Pedersen, Christian Trolle, Jesper Just, Claus H. Gravholt
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-19 (2023)
Abstract Background Sex chromosome aneuploidies (SCAs) give rise to a broad range of phenotypic traits and diseases. Previous studies based on peripheral blood samples have suggested the presence of ripple effects, caused by altered X chromosome numb
Externí odkaz:
https://doaj.org/article/db4f75ab2f61487782271ccbb0b67421