Results 221 to 230 of about 130,329 (268)

Systemic Surveillance Guidelines for Uveal Melanoma: A Systematic Review

Clinical &Experimental Ophthalmology, EarlyView.
ABSTRACT Background Uveal melanoma (UM) is the most common primary intraocular tumour. Despite effective local therapies, UM has a high risk of metastatic recurrence, most frequently to the liver. A significant proportion of patients treated definitively for primary UM eventually experience metastatic disease. Systemic surveillance to detect recurrence
Farzana Y. Zaman, Aisha Ghaus, Mark Shackleton, Damien Kee, Anthony M. Joshua, Roderick O'Day, Malaka Ameratunga   +6 more
wiley   +1 more source

Comparative genomics and expression analysis of polyamine oxidase gene family in Sorghum bicolor reveals functional specialization, gene duplication, and role in drought resilience. [PDF]

BMC Genomics
Ebeed HT.
europepmc   +1 more source

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics

Clinical Genetics, EarlyView.
To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum, Maya Slovik, Shamir Zenvirt, Ilana Livyatan, Israel Altman, Shiri Gershon, Jonathan Rips, Hagit Daum, Chaggai Rosenbluh, Orly Elpeleg, Vardiella Meiner, Ayala Frumkin, Hagar Mor‐Shaked, Tamar Harel   +13 more
wiley   +1 more source

CNAttention: an attention-based deep multiple-instance method for uncovering copy number aberration signatures across cancers. [PDF]

Brief Bioinform
Yang Z, Baudis M.
europepmc   +1 more source

Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22–23 Deletions

Clinical Genetics, EarlyView.
The frequency and severity of congenital heart disease vary extensively in individuals with 22q11.22–23 distal deletions. Reduced gene dosage particularly within the low copy repeat (LCR22) D–E region including MAPK1 and HIC2 conveys risk for these defects.
Tanner J. Nelson, Daniel E. McGinn, T. Blaine Crowley, Lydia Rockart, Audrey Green, Victoria Giunta, Oanh Tran, Daniella Miller, Jeroen Breckpot, Ann Swillen, M. Cristina Digilio, Marta Unolt, Carolina Putotto, Federica Pulvirenti, Bruno Marino, Beverly S. Emanuel, Elaine H. Zackai, Zhengdong D. Zhang, Elizabeth Goldmuntz, Erik Boot, Anne S. Bassett, Bernice E. Morrow, Donna M. McDonald‐McGinn   +22 more
wiley   +1 more source

Comparative analysis of NAC genes and their expression patterns under various treatments in Dendrobium huoshanense. [PDF]

BMC Plant Biol
Khan H, Zeb U, Haider I, Rao W, Wang C, Guan J, Alanzi AR, Herqash RN, Abbasov MA, Xing S.   +9 more
europepmc   +1 more source

Unraveling the Genetic Mysteries of Müllerian Anomalies: Research Approaches and Clinical Significance

Clinical Genetics, EarlyView.
This review primarily summarizes the genetic defects in Müllerian anomalies, the tools used to validate these genetic defects, and the future clinical significance of identifying the precise genetic etiology of Müllerian anomalies. ABSTRACT Müllerian anomalies are a collection of heterogeneous anatomical disorders of the female genital tract that ...
Jingfang Li, Xin Hou, Xiangyu Wang, Juan Li, Li Li, Xiangyi Ma   +5 more
wiley   +1 more source

Identification, characterization, and expression profiling of the bHLH gene family in Beta vulgaris. [PDF]

BMC Plant Biol
Yang H, Peng Z, Xue G, Wu W, Zhou H, Yao X, Ma C, He A, Ruan J.   +8 more
europepmc   +1 more source

Evolutionary Analysis of Transcriptional Regulation Mediated by Cdx2 in Rodents

Cell Proliferation, EarlyView.
Our study (1) represented a first systematic analysis of species‐specific adaptation in the DNA binding pattern of transcription factor; (2) represented a first study of cis‐regulation between two reproductively isolated species by using a novel allodiploid system; (3) demonstrated a higher conservation of transcriptional output than that of DNA ...
Weizheng Liang, Guipeng Li, Yukai Wang, Wencheng Wei, Rui Chen, Siyue Sun, Diwen Gan, Hongyang Yi, Bernhard Schaefke, Yuhui Hu, Qi Zhou, Wei Li, Huanhuan Cui, Wei Chen   +13 more
wiley   +1 more source

Exploring the size limits of Bionano optical genome mapping to resolve alternative structures of linked interspersed chromosomal duplications. [PDF]

Genome Med
Pei Y, Calpena E, Brown JM, Schwessinger R, Platts L, McGowan SJ, Ashraf T, Forzano F, Hurst JA, Jones WD, Sarkar A, Gibbons RJ, Twigg SRF, Wilkie AOM.   +13 more
europepmc   +1 more source