Results 171 to 180 of about 317,190 (282)

Radial outer retina reflectivity (RORR) sign in LAMP2‐associated retinopathy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To describe the radial outer retina reflectivity (RORR) sign in patients carrying pathogenic variants in the X‐linked lysosome‐associated membrane protein‐2 (LAMP2) gene and to review the histologic characteristics of LAMP2 expression in the human retina.
Rachael C. Heath Jeffery, Bohdan Kousal, Ulrike Grünert, Christine A. Curcio, Svetlana Cherepanoff, Tina M. Lamey, Michel Michaelides, Chrysanthi Tsika, Isabelle Chow, Omar A. Mahroo, Seungmin Lee, Martin Meliska, Milos Kubanek, Jakub Sikora, Siying Lin, Raymond C. B. Wong, Petra Liskova, Fred K. Chen   +17 more
wiley   +1 more source

Genetic diagnosis in fetal hydronephrosis: assessment using chromosomal microarray analysis and whole-genome sequencing. [PDF]

Hum Genomics
Wang J, Zhao J, Wang W, Zhu X, Zhang B, Yu B.   +5 more
europepmc   +1 more source

Chromosomal and immune dysregulation underlying granular mitosis in glioblastoma

Brain Pathology, EarlyView.
Granular mitosis (GM) morphology is linked to PI3K/PTEN pathway alterations, chromosomal disorganization, and impaired innate immunity. Cells exhibiting GM morphology are associated with localized immune responses within their immediate spatial microenvironment.
Rachel Barboza, Xuan Wang, August Lin, Eric Liu, Pramath Kakodkar, Yayuan Zhao, Quinn Le, Christina A. Castellani, Qi Zhang   +8 more
wiley   +1 more source

Prenatal SNP-array chromosomal microarray analysis in 3,549 pregnancies: indication-specific yields and clinical implications. [PDF]

BMC Pregnancy Childbirth
Tao Y, Wei Y, Yao Z, Han D, Wang L, Song W, Li X.   +6 more
europepmc   +1 more source

Nearest‐neighbors assisted unsupervised analysis for methylation array profiling for central nervous system tumors

Brain Pathology, EarlyView.
The NN method identifies the five nearest reference dataset neighbors to a tested sample and provides an objective estimation of the tested sample methylation class cluster rather than relying on subjective visualization using dimensionality reduction methods such as UMAP and t‐SNE.
Mallika Gandham, Surendra Dasari, Cherisse Marcou, Stephanie Smoley, Matthew Isaacson, Caterina Giannini, Aditya Raghunathan, Rachael A. Vaubel, M. Adelita Vizcaino Villalobos, Aivi Nguyen, Jorge A. Trejo‐Lopez, Kenneth Aldape, Cristiane M. Ida   +12 more
wiley   +1 more source

A Rare Finding of Mosaic 45,XX,der(13;21)(q10;q10)[15]/46,XX,r(13)(p11.2q33) Following Abnormal Prenatal Chromosomal Microarray Testing. [PDF]

Case Rep Genet
Haines KM, Hazard DM, Carstens B, Brzeskiewicz PM, Gilfillan TM, Nijmeh H, Perez-Gill C, Stoecker M, Rajabi F, Haag MM, Wicks SJ.   +10 more
europepmc   +1 more source

The DNA/RNA Helicase SETX Maintains R‐Loop Homeostasis to Promote Chemoresistance in Ovarian Cancer

Cancer Science, EarlyView.
SETX maintains R‐loop homeostasis by resolving excessive R‐loops, thereby promoting tumor initiation and chemoresistance. Deficiency of SETX leads to accumulation of unsolved pathological R‐loops, resulting in irreparable DNA damage and ultimately leading to tumor suppression and chemosensitivity.
Zi‐Wei Hu, Tu‐Nan Xu, Zi‐Ying Wang, Xin Zheng, Duan‐Yong Feng, Xiao‐Min Wang, Er‐Suo Jin, Ming Ren, Xiao‐Min Yang, Xian‐Chao Zhang, Xuan Che, Wei‐Wei Pan, Zha‐Jun Zhan, Shu‐Qun Cheng   +13 more
wiley   +1 more source

Complementary Diagnostic Roles of Non-Invasive Prenatal Testing, Chromosomal Microarray Analysis, and Karyotyping in 14,011 High-Risk Pregnancies: A Retrospective Cohort Study with Combined Analyses. [PDF]

J Clin Med
Lee S, Kim SW, Lee E, Lee S, Han S.
europepmc   +1 more source

Machine Learning‐Derived Immune Gene Signature Predicts Prognosis and Therapeutic Vulnerabilities in Multiple Myeloma

Cancer Science, EarlyView.
An immune‐related 12‐gene signature developed through integrative machine learning stratified overall survival across multiple myeloma cohorts and remained independently associated with outcome. Single‐cell, somatic mutation, and transcriptome‐based drug‐response analyses further linked the signature to multicellular bone marrow context, distinct ...
Kai Wang, Chenfei Zhao, Jingru Shi, Shiwei Liu, Yi Chen, Jujuan Wang, Zhengxu Sun, Sanmei Wang, Lei Fan, Jin Fan, Xiaoyan Qu   +10 more
wiley   +1 more source

SNP-Based Chromosomal Microarray Analysis in the Era of Optical Genome Mapping: An Enriched Case-Series Evaluating Copy-Neutral Events. [PDF]

Cancers (Basel)
Marr AR, Gonzales PR, Golem S.
europepmc   +1 more source