Results 251 to 260 of about 837,577 (343)

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei, Johanna Bruder, Ida C. B. Lund, Simon H. Thomsen, Ida Vogel, Andrea T. Maciel‐Guerra, Francisco Alvarez‐Nava, Melissa L. Crenshaw, Roland Axt‐Fliedner, Claus H. Gravholt, Anne Skakkebæk   +10 more
wiley   +1 more source

Microarray analysis points to LMNB1 and JUN as potential target genes for predicting metastasis promotion by etoposide in colorectal cancer. [PDF]

Sci Rep
Liu J, Yang H, Li P, Zhou Y, Zhang Z, Zeng Q, Zhang X, Sun Y.   +7 more
europepmc   +1 more source

Psychoses of Epilepsy: Unravelling the Phenotypic and Genotypic Features

Annals of Neurology, Volume 98, Issue 1, Page 35-47, July 2025.
Objectives We analyzed the genotypic and phenotypic features of patients with psychosis of epilepsy (POE). Methods Patients with POE recruited to an epilepsy genetics research program underwent phenotyping and genetic analysis. The latter included screening for rare pathogenic variants in epilepsy genes, and polygenic risk score (PRS) calculation for ...
Genevieve Rayner, Eliza Honybun, Melanie Bahlo, Karen L. Oliver, Ingrid E. Scheffer   +4 more
wiley   +1 more source

Synthesis of Versatile DNA‐Conjugated Aldehydes by Controlled Oxidation of Amines

Angewandte Chemie, EarlyView.
A controlled oxidation strategy enables efficient in situ generation of aldehyde‐functionalized DNAs from DNA‐conjugated amines using O2/laccase/TEMPO. This approach facilitates reversible amine–aldehyde transformations for DNA bioconjugation, and provides access to chemically diverse DNA‐encoded libraries, broadening the toolbox for chemical biology ...
Guixian Zhao, Mengping Zhu, Pengyang He, Qigui Nie, Yangfeng Li, Gong Zhang, Yizhou Li   +6 more
wiley   +2 more sources

Identification of biomarkers in multiple myeloma: A comprehensive study combining microarray analysis and Mendelian randomization. [PDF]

J Cell Mol Med
Zhu Y, Liu J, Wang B.
europepmc   +1 more source

Mapping Molecular Pathways of Multiple Sclerosis: A Gene Prioritization and Network Analysis of White Matter Pathology Transcriptomics

Annals of Neurology, Volume 98, Issue 1, Page 67-79, July 2025.
Objectives Rapid advances in transcriptomics have driven efforts to identify deregulated pathways in multiple sclerosis (MS) tissues, though many detected differentially expressed genes are likely false positives, with only a small fraction reflecting actual pathological events. Robust, integrative methods are essential for accurately understanding the
Gianmarco Abbadessa, Ai Nagano, Simon Hametner, Owain Howell, David Owen, Artemis Papadaki, Prashant Srivastava, Simona Bonavita, Roberta Magliozzi, Richard Reynolds, Mie Rizig, Richard Nicholas   +11 more
wiley   +1 more source

Microarray analysis of signalling interactions between inflammation and angiogenesis in subchondral bone in temporomandibular joint osteoarthritis. [PDF]

Biomater Transl
Qin W, Gao J, Yan J, Han X, Lu W, Ma Z, Niu L, Jiao K.   +7 more
europepmc   +1 more source

cDNA Microarray and SNP Analysis

Journal of Nippon Medical School, 2001
openaire   +4 more sources

Blood DDIT4 and TRIM13 Transcript Levels Mark the Early Stages of Machado–Joseph Disease

Annals of Neurology, Volume 98, Issue 1, Page 107-119, July 2025.
Objective An abundance of select transcripts and proteins has been found to be dysregulated in blood samples of Machado–Joseph disease (MJD) carriers. Here, we aimed to: (1) identify blood transcriptional changes as potential biomarkers of MJD; (2) correlate levels of differentially expressed blood transcripts with MJD carriers features; and (3 ...
Ana F. Ferreira, Mafalda Raposo, Emily D. Shaw, Louisa Liu, João Vasconcelos, Teresa Kay, Conceição Bettencourt, Maria Luiza Saraiva‐Pereira, Laura Bannach Jardim, Maria do Carmo Costa, Manuela Lima   +10 more
wiley   +1 more source