Results 81 to 90 of about 2,432,280 (329)

An Economic Model of Amniocentesis Choice [PDF]

Medical practitioners typically utilize the following protocol when advising pregnant women about testing for the possibility of genetic disorders: Pregnant women over the age of 35 should be tested for Down syndrome and other genetic disorders; for ...
V. Joseph Hotz, Eduardo Fajnzylber, Seth G. Sanders   +2 more
core  

Data_Sheet_1_Meiotic Chromosomal Abnormality Detected in a Heterozygote of Elymus nutans.docx

, 2022
Elymus nutans is an allopolyploid with a genome constitution of StStYYHH (2n = 6x = 42). Highly frequent intergenomic translocations and chromosomal variations with repeat amplification and deletions in E.
Quanwen Dou (3827530), Bo Liu (127343), Xiaoyan Tao (167632)   +2 more
core   +1 more source

Retrospective Study of B Lymphoblastic Leukemia to Assess the Prevalence of TEL/AML1 in South India: A Study of 214 Cases and Review of Literature

Indian Journal of Medical and Paediatric Oncology
Introduction Translocation t(12;21)(p13;q22), a recurrent and an invisible chromosomal abnormality, resulting in TEL/AML1 gene fusion, associated with good prognosis, has been described to be a common abnormality, in children with B-acute ...
Sandhya Devi G., Faiq Ahmed, Manasi C. Mundada, Rachna Khera, Lavanya Nambaru, Krishnamohan Mallavarapu, Pavan Kumar Boyella, Veerandra Patil, Pallavi Suresh Laddha, Senthil J. Rajappa   +9 more
doaj   +1 more source

Testicular microlithiasis in two boys with a chromosomal abnormality

Indian Journal of Urology, 2012
A nine and 13-year-old boy, previously diagnosed with 18q syndrome and an 11q deletion, respectively were diagnosed with testicular microlithiasis (TM).
Joery Goede, W. W. M Hack, F H Pierik
doaj   +1 more source

PET Imaging of Cardiac Inflammation in Viral Myocarditis Using a DPP4‐Targeted Probe

Advanced Science, EarlyView.
This study describes a DPP4‐targeted PET probe for imaging myocardial inflammation by selectively targeting activated immune cells. Derived from the clinically approved small‐molecule inhibitor linagliptin, the probe demonstrates favorable biodistribution with specific cardiac uptake in myocarditis.
Wanhao Gao, Wenzhu Hu, Du Tang, Xinxin Liu, Kun Yu, Lixia Feng, Minyu Liao, Wang Lin, Wenqiang Zhu, Sanjay Rajagopalan, Xiaoli Lan, Jixin Zhong, Dao Wen Wang, Dawei Jiang, Xiaoquan Rao   +14 more
wiley   +1 more source

Table_1_Meiotic Chromosomal Abnormality Detected in a Heterozygote of Elymus nutans.xlsx

, 2022
Elymus nutans is an allopolyploid with a genome constitution of StStYYHH (2n = 6x = 42). Highly frequent intergenomic translocations and chromosomal variations with repeat amplification and deletions in E.
Quanwen Dou (3827530), Bo Liu (127343), Xiaoyan Tao (167632)   +2 more
core   +1 more source

Cytogenetic Investigation in Couples with Recurrent Abortion and Poor Obstetric History

Gynecology Obstetrics & Reproductive Medicine, 2010
OBJECTIVES: The cause of recurrent early pregnancy wastage is often unknown. Cytogenetic studies have an important role in the evaluation of couples with repeated miscarriages and poor obstetric history.
Ebru Önalan Etem, Hüseyin Yüce, Deniz Erol, Şükriye Derya Deveci, Hüsnü Çelik, Halit Elyas   +5 more
doaj  

Enhanced Glycolysis‐Driven Histone H3K18 Lactylation Regulates Epileptogenesis by Modulating the E3 Ubiquitin Ligase COP1

Advanced Science, EarlyView.
Neuronal PKM2‐driven glycolysis generates excess lactate that triggers histone H3K18 lactylation (H3K18la), establishing a pathogenic metabolic‐epigenetic axis in epilepsy. Elevated H3K18la enriches the Cop1 promoter, transcriptionally upregulating the E3 ubiquitin ligase COP1, which subsequently drives proteasomal degradation of GABAARβ2 and impairs ...
Yuan Meng, Yanlin Guo, Liumi Jiang, Jing Luo, Yan Liu, Ziwei Yuan, Pingyang Ke, Ran Duan, Fei Xiao   +8 more
wiley   +1 more source

Decoding IGLL5 Mutation‐Mediated BCR Signaling: A Novel Mechanism of CD8+ T Cell Exhaustion and Ocular MALT Lymphoma Progression

Advanced Science, EarlyView.
OAML harbors recurrent IGLL5 mutations that reinforce CD79A/CD79B‐associated BCR signaling. Mechanistic analysis of the S47G and A54G variants reveals induction of CXCL10/CXCL11, enhanced CD8+ T‐cell recruitment, and exhaustion‐associated dysfunction, supporting an immune‐tolerant niche.
Andi Zhao, Haoyu Wei, Chenyu Zhou, Xinping Sun, Shuyan Da, Haiyu Liu, Zijin Wang, Hui Zhu, Shiya Shen, Qing Shao, Qi Gong, Hu Liu, Xuejuan Chen   +12 more
wiley   +1 more source

Comparison of chromosomal abnormality rate among those with EIF and non-EIF.

Comparison of chromosomal abnormality rate among those with EIF and non-EIF.
Sinead Brophy (40627), Hope Eleri Jones (18422922), Serica Battaglia (18422925), Orhan Uzun (10446091), Lisa Hurt (298270)   +4 more
core   +1 more source