Results 111 to 120 of about 54,834 (268)

Review of Transcriptomic Biomarkers That Predict In Vitro Genotoxicity in Human Cell Lines

Environmental and Molecular Mutagenesis, EarlyView.
ABSTRACT The current genotoxicity testing paradigm provides little mechanistic information, has poor specificity in predicting carcinogenicity in humans, and is not suited to assessing a large number of chemicals. Genomic technologies enable the characterization of genome‐wide transcriptional changes in response to chemical treatments that can inform ...
Heng‐Hong Li, Jiri Aubrecht, Tatyana Y. Doktorova, Danyel Jennen, J. Christopher Corton, Roland Froetschl, Roman Mezencev, Carole L. Yauk   +7 more
wiley   +1 more source

Chromosomal microarray analysis as a first-line test in pregnancies with a priori low risk for the detection of submicroscopic chromosomal abnormalities [PDF]

, 2012
Francesco Fiorentino, S Napoletano, Fiorina Caiazzo, Mariateresa Sessa, Sara Bono, L. Spizzichino, Anthony T. Gordon, Andrea Nuccitelli, Giuseppe Rizzo, Marina Baldi   +9 more
openalex   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

605: Clinical utility of chromosomal microarray analysis in prenatal diagnosis in a diverse urban center [PDF]

, 2012
Brianna L. Spencer, Susan Klugman, Barrie Suskin, Komal Bajaj, Tamar Goldwaser, Judith Powers, Julie Reichling, Siobhan M. Dolan, Irwin R. Merkatz   +8 more
openalex   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Clinical features and genetic analysis of a family with t(5;9) (p15;p24) balanced translocation leading to Cri-du-chat syndrome in offspring

Frontiers in Genetics
BackgroundBalanced translocations are common chromosomal structural abnormalities that usually do not involve a gain or loss of genetic material; and carriers usually display normal phenotypes and intelligence.
Jing Zhao, Ping Chen, Yijia Ren, Shurong Li, Weiyi Zhang, Yan Li, Fengyu Wang   +6 more
doaj   +1 more source

An Additional Report of a Female With a Complex XY Translocation Is Presented Who Has Successfully Completed a Pregnancy With Significant Y Chromosome Material Gain and Partial X Deletion

American Journal of Medical Genetics Part A, EarlyView.
John Coleman, Nicola Walsh, Deborah M. Lambert, Andrew Green, Sally Ann Lynch   +4 more
wiley   +1 more source

Neonatal seizures: Advances in diagnosis and management

Epilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz, Ronit M. Pressler, Eli M. Mizrahi   +2 more
wiley   +1 more source

PF.01 Prenatal Chromosomal Microarray Use: A Prospective Cohort of Fetuses and a Systematic Review and Meta-Analysis [PDF]

, 2013
Sarah Hillman, DJ McMullan, G Hall, FS Togneri, Nathan T. James, E.J. Maher, César Meller, Darwin Williams, Ronald J. Wapner, ER Maher, Mark D. Kilby   +10 more
openalex   +1 more source

Chromosome microarray analysis: A soothing guide [PDF]

Journal of Paediatrics and Child Health, 2018
openaire   +2 more sources