Results 261 to 270 of about 50,865 (308)

The problems of aneuploidy

The Japanese Journal of Genetics, 1952
openaire   +2 more sources

TP53 deletion as an MRD‐dependent risk factor in childhood B‐ALL: A post hoc analysis from a prospective cohort

HemaSphere, Volume 9, Issue 4, April 2025.
Abstract The effect of TP53 alterations on childhood B‐cell acute lymphoblastic leukemia (B‐ALL) remains unclear. To investigate the prognostic value of TP53 deletion (TP53del) and TP53 mutation (TP53mut), this post hoc study used fluorescence in situ hybridization test to detect TP53del in 907 newly diagnosed B‐ALL patients from a prospective cohort ...
Yangyang Gao, Jun Li, Ning Wang, Wenbin An, Zixi Yin, Junxia Wang, Xia Chen, Yumei Chen, Ye Guo, Wenyu Yang, Li Zhang, Yao Zou, Xiaojuan Chen, Xiaofan Zhu   +13 more
wiley   +1 more source

Assessing the impact of both preimplantation genetic testing for aneuploidy with blastocyst morphologic grade on live birth rates in frozen embryo transfers from fresh and frozen donor oocytes. [PDF]

Arch Gynecol Obstet
Dennis A, Jain N, Clarke EA, Blakemore JK.   +3 more
europepmc   +1 more source

iMLGAM: Integrated Machine Learning and Genetic Algorithm‐driven Multiomics analysis for pan‐cancer immunotherapy response prediction

iMeta, Volume 4, Issue 2, April 2025.
We developed an integrated Machine Learning and Genetic Algorithm‐driven Multiomics analysis (iMLGAM), an R package that combines various machine learning algorithms with genetic algorithms and multi‐omics data to predict responses to immune checkpoint blockade (ICB) therapy.
Bicheng Ye, Jun Fan, Lei Xue, Yu Zhuang, Peng Luo, Aimin Jiang, Jiaheng Xie, Qifan Li, Xiaoqing Liang, Jiaxiong Tan, Songyun Zhao, Wenhang Zhou, Chuanli Ren, Haoran Lin, Pengpeng Zhang   +14 more
wiley   +1 more source

CINner: Modeling and simulation of chromosomal instability in cancer at single-cell resolution. [PDF]

PLoS Comput Biol
Dinh KN, Vázquez-García I, Chan A, Malhotra R, Weiner A, McPherson AW, Tavaré S.   +6 more
europepmc   +1 more source

A qualitative exploration of experiences of gender identity and gender questioning among adults with Klinefelter syndrome/XXY

Journal of Genetic Counseling, Volume 34, Issue 2, April 2025.
Abstract People with Klinefelter syndrome (KS/XXY) may be at higher risk of gender dysphoria than the general population and gender diversity needs greater recognition and consideration in services for people affected. This study aimed to give systematic insights into experiences of gender diversity among people with KS/XXY, which could inform more ...
Claire Harkin, James Elander
wiley   +1 more source

On the origin of mitosis-derived human embryo aneuploidy. [PDF]

Nat Commun
Leem J, Gowett M, Bolarinwa S, Mogessie B.   +3 more
europepmc   +1 more source

Navigating the disclosure landscape: Parents' perspectives on healthcare professionals' role in supporting intersex children and families

Journal of Genetic Counseling, Volume 34, Issue 2, April 2025.
Abstract Intersex, an umbrella term, describes individuals with sex characteristics that cannot be exclusively categorized into binary definitions of male or female. The intersex community faces a lack of social visibility perpetuated by a history of medical discrimination and pathologization shaped by “normalizing” genital surgeries without the child ...
Kayla Horowitz, Kimberly Zayhowski, Nicole Palmour, Darius Haghighat, Yann Joly   +4 more
wiley   +1 more source

Karyotype variation patterns and phenotypic responses of hybrid progenies of triploid loquat (<i>Eriobotrya japonica</i>) provide new insight into aneuploid germplasm innovation. [PDF]

Hortic Res
Wang P, Yang S, Chen M, Liu Y, He Q, Sun H, Wu D, Xiang S, Jing D, Wang S, Guo Q, Dang J, Liang G.   +12 more
europepmc   +1 more source

Is intermediate risk really intermediate? Comparison of karyotype and non‐invasive prenatal testing results of pregnancies at intermediate risk of trisomy 21 on maternal serum screening

Journal of Genetic Counseling, Volume 34, Issue 2, April 2025.
Abstract The purpose of this study was to assess the additional contribution of karyotyping compared with genome‐wide non‐invasive prenatal testing (NIPT) for pregnancies at intermediate risk for trisomy 21 (T21), calculated using the maternal serum screening without major structural anomalies detected through sonography.
Gul Alkan Bulbul, Emine Kirtis, Hulya Kandemir, Cem Yasar Sanhal, Sezin Yakut Uzuner, Sibel Berker Karauzum, Ibrahim Inanc Mendilcioglu   +6 more
wiley   +1 more source