Results 101 to 110 of about 54,834 (268)

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

Relationship between gene co-expression and probe localization on microarray slides

BMC Genomics, 2003
Background Microarray technology allows simultaneous measurement of thousands of genes in a single experiment. This is a potentially useful tool for evaluating co-expression of genes and extraction of useful functional and chromosomal structural ...
Qian Jiang, Yu Haiyuan, Kluger Yuval, Gerstein Mark   +3 more
doaj   +1 more source

Establishment and molecular profiling of a PDX model of a metachronous brain tumor in a patient with constitutional mismatch repair deficiency with biallelic MSH6 variant

Animal Models and Experimental Medicine, EarlyView.
A 6½‐year‐old girl was diagnosed with a medulloblastoma, SHH activated, subtype 3 and TP53 mutant (somatic). After surgery and chemotherapy, she was monitored with quarterly magnetic resonance imaging (MRI) scans and remained free of disease for almost 4 years.
Daniel Antunes Moreno, Bruna Minniti Mançano, Mirella Baroni, Eric Allison Philot, Felipe Antonio de Oliveira Garcia, Murilo Bonatelli, Flávia Escremim de Paula, Iara Viana Vidigal Santana, Gustavo Ramos Teixeira, Mauricio Yamanari, Luciane Sussuchi da Silva, André Escremim de Paula, Augusto Perazzolo Antoniazzi, Adrian Willig, Xiaobin Xing, Zhenyu Xu, Lucas Lourenço, Carlos Almeida Junior, Silvia Aparecida Teixeira, Rui Manuel Reis   +19 more
wiley   +1 more source

Intranuclear paraspeckle‐circular RNA TACC3 assembly forms RNA‐DNA hybrids to facilitate MASH‐related hepatocellular carcinoma growth in an m6A‐dependent manner

Cancer Communications, EarlyView.
Abstract Background Metabolic dysfunction‐associated steatohepatitis (MASH) is anticipated to become the leading cause of hepatocellular carcinoma (HCC). Accumulating evidence indicates that N6‐methyladenosine (m6A)‐modified circular RNAs (circRNAs) play key roles in tumor malignant progression.
Jingbo Fu, Yanping Wei, Yun Yang, Xinwei Yang, Tao Ouyang, Xianming Wang, Shuzhen Chen, Zenglin Liu, Yu Su, Jing Fu, Miao Yu, Haihua Qian, Hao Song, Shuo Xu, Ru Zhao, Xue Jiang, Yunfei Huo, Man Zhang, Pinhua Yang, Zhao Yang, Kui Wang, Liang Li, Hongyang Wang   +22 more
wiley   +1 more source

Monochromosome Transfer and Microarray Analysis Identify a Critical Tumor-Suppressive Region Mapping to Chromosome 13q14 and THSD1 in Esophageal Carcinoma [PDF]

, 2008
Josephine Mun Yee Ko, Pui Ling Chan, Wing Lung Yau, Ho Kin Chan, King Chi Chan, Zhuo Yu, Fung Mei Kwong, Lance D. Miller, Edison T. Liu, Li Chun Yang, Paulisally Hau Yi Lo, Eric J. Stanbridge, Johnny Tang, Gopesh Srivastava, Sai Wah Tsao, Simon Law, Maria Li Lung   +16 more
openalex   +1 more source

Interpretation of in vitro concentration‐response data for risk assessment and regulatory decision‐making: Report from the 2022 IWGT quantitative analysis expert working group meeting

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Quantitative risk assessments of chemicals are routinely performed using in vivo data from rodents; however, there is growing recognition that non‐animal approaches can be human‐relevant alternatives. There is an urgent need to build confidence in non‐animal alternatives given the international support to reduce the use of animals in toxicity ...
Marc A. Beal, Guangchao Chen, Kerry L. Dearfield, Min Gi, Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Alexandra S. Long, David P. Lovell, Barbara L. Parsons, Stefan Pfuhler, John Wills, Andreas Zeller, George Johnson, Paul A. White   +14 more
wiley   +1 more source

Epigenotoxicity: Decoding the epigenetic imprints of genotoxic agents and their implications for regulatory genetic toxicology

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Regulatory genetic toxicology focuses on DNA damage and subsequent gene mutations. However, genotoxic agents can also affect epigenetic marks, and incorporation of epigenetic data into the regulatory framework may thus enhance the accuracy of risk assessment.
Roger Godschalk, Christopher Faulk, Jessica LaRocca, Jan van Benthem, Francesco Marchetti   +4 more
wiley   +1 more source

Clinical profile and cytogenetics of siblings with Jacobsen syndrome

Journal of Current Research in Scientific Medicine
The clinical care of patients has greatly benefited from the advancement of genetic testing. Over time, a gradual move toward a “genotype-first” strategy and growing use of genome-wide testing techniques such as chromosomal microarray analysis and next ...
Abinaya Gunalan, Priya Jose, Allen David, Peter Prasanth Kumar Kommu   +3 more
doaj   +1 more source

Standardization and Diversification of Copy Number Microarray Testing for Clinical Diagnostics—Implications of the Cross-Platform/Algorithm Study on Clinical Diagnostic Chromosomal Microarray Analysis [PDF]

, 2011
Yiping Shen, Yu An, Bai-Lin Wu
openalex   +1 more source

Consensus findings of an International Workshops on Genotoxicity Testing workshop on using transcriptomic biomarkers to predict genotoxicity

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Gene expression biomarkers have the potential to identify genotoxic and non‐genotoxic carcinogens, providing opportunities for integrated testing and reducing animal use. In August 2022, an International Workshops on Genotoxicity Testing (IWGT) workshop was held to critically review current methods to identify genotoxicants using ...
Roland Froetschl, J. Christopher Corton, Henghong Li, Jiri Aubrecht, Scott S. Auerbach, Florian Caiment, Tatyana Y. Doktorova, Yurika Fujita, Danyel Jennen, Naoki Koyama, Matthew J. Meier, Roman Mezencev, Leslie Recio, Takayoshi Suzuki, Carole L. Yauk   +14 more
wiley   +1 more source