Results 21 to 30 of about 31,423 (169)

The embryo mosaicism profile of next-generation sequencing PGT-A in different clinical conditions and their associations

Frontiers in Reproductive Health, 2023
IntroductionUniform chromosome abnormalities are commonly seen in early pregnancy loss, with analyses of the product of conception suggesting the presence of mosaic autosomal trisomy in ∼10% of cases.
Hadassa Campos Heiser, Natalia Fagundes Cagnin, Mariane Uehara de Souza, Taccyanna Mikulski Ali, Paula Regina Queiroz Estrada, Camila Cristina Wuaquim Dantas de Souza, Bruno Coprerski, Carmen Rubio, Marcia Riboldi   +8 more
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Mosaic aging [PDF]

Medical Hypotheses, 2010
Although all multicellular organisms undergo structural and functional deterioration with age, senescence is not a uniform process. Rather, each organism experiences a constellation of changes that reflect the heterogeneous effects of age on molecules, cells, organs and systems, an idiosyncratic pattern that we refer to as mosaic aging. Varying genetic,
Lary C, Walker, James G, Herndon
openaire   +2 more sources

Case report: Detection of fetal trisomy 9 mosaicism by multiple genetic testing methods: Report of two cases

Frontiers in Genetics, 2023
Chromosomal mosaicism remains a perpetual diagnostic and clinical dilemma. In the present study, we detected two prenatal trisomy 9 mosaic syndrome cases by using multiple genetic testing methods.
Na Ma, Zhenhua Zhu, Jiancheng Hu, Jialun Pang, Shuting Yang, Jing Liu, Jing Chen, Wanglan Tang, Haiyan Kuang, Rong Hu, Zhuo Li, Hua Wang, Ying Peng, Hui Xi   +13 more
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Genetic mosaics [PDF]

WormBook, 2005
Genetic mosaics can be used to gain insight into the cell specificity of gene function. How Caenorhabditis elegans mosaics are typically generated is reviewed, and several examples with relevance to developmental studies are mentioned. One example is mpk-1, which encodes a member of the Ras-MAP-kinase pathway.
John, Yochem, Robert K, Herman
openaire   +2 more sources

#347 : Factors Related to Mosaicism of Human Embryo: Conventional Statistics and Machine Learning Analysis

Fertility & Reproduction, 2023
Background and Aims: Mosaicism arises from errors in the cell division process and can lead to cells containing a combination of normal and mutated genes. Mosaic embryos can produce healthy babies.
Huy-Phuong Tran, Long Nu-Hai Nguyen, Tuong-Nguyen Ho, Vy Nguyen-Thao Do, Loc-Thai Ly, Tuyet Thi-Diem Hoang   +5 more
doaj   +1 more source

Detection of gonosomal mosaicism by ultra‐deep sequencing and droplet digital PCR in patients with Emery–Dreifuss muscular dystrophy

Molecular Genetics & Genomic Medicine, 2023
Background Emery–Dreifuss muscular dystrophy (EDMD2) is a rare form of muscular dystrophy that is inherited as an autosomal dominant trait. In some patients, it is inherited from parental mosaicism, and this increases the recurrence risk significantly ...
Yanshu Xie, Jingsi Luo, Jingzi Zhong, Xu Liu, Jing Tang, Dan Lan   +5 more
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MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in males

BMC Medicine, 2023
Background Germline mosaicisms could be inherited to offspring, which considered as “de novo” in most cases. Paternal germline MECP2 mosaicism has been reported in fathers of girls with Rett syndrome (RTT) previously.
Yongxin Wen, Jiaping Wang, Qingping Zhang, Xiaoxu Yang, Liping Wei, Xinhua Bao   +5 more
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Living birth following preimplantation genetic testing for monogenic disorders to prevent low-level germline mosaicism related Nicolaides–Baraitser syndrome

Frontiers in Genetics, 2022
Objective: Paternal sperm mosaicism has few consequences for fathers for mutations being restricted to sperm. However, it could potentially underlie severe sporadic disease in their offspring.
Jiexue Pan, Jiexue Pan, Jiexue Pan, Jiexue Pan, Jie Li, Jie Li, Songchang Chen, Songchang Chen, Chenming Xu, Chenming Xu, Hefeng Huang, Hefeng Huang, Hefeng Huang, Li Jin, Li Jin   +14 more
doaj   +1 more source

Embryo Mosaicism Rate in National Referral Hospital of Indonesia Detected Using Next-Generation Sequencing: A Retrospective Study [PDF]

International Journal of Fertility and Sterility
Background: Chromosomal mosaicism, a phenomenon observed in a minority of embryos, showcases its prevalenceand inherent unpredictability, leading to variations in embryo mosaic rates across different centers.
Achmad Kemal Harzif, Muhammad Ikhsan, Pritta Ameilia Iffanolida, Kresna Mutia, Budi Wiweko, R Muharam, Kanadi Sumapraja, Gita Pratama, Mila Maidarti, Vita Silvana, Amalia Shadrina, Irene Sinta Febriana, Nafi'atul Ummah, Aisyah Retno Puspawardani, Andon Hestiantoro   +14 more
doaj   +1 more source

The Use of Fluorescence In situ Hybridisation in the Diagnosis of Hidden Mosaicism in Egyptian Patients with Turner Syndrome

Journal of Human Reproductive Sciences, 2023
Background: Turner syndrome (TS) is the most common chromosomal abnormality in females. The diagnosis of TS is based on karyotyping of 30 blood lymphocytes. This technique does not rule out tissue mosaicism or low-grade mosaicism in the blood. Because of
Heba Mohamed Ossama, Soha Kholeif, Ghada Mohamed Elhady   +2 more
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