Results 181 to 190 of about 1,802,261 (296)

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

A universal DNA microarray for rapid fish species authentication. [PDF]

Food Chem (Oxf)
Bade P, Stix S, Kappel K, Fritsche J, Haase I, Torda A, Wax N, Fischer M, Brandis D, Schröder U.   +9 more
europepmc   +1 more source

Integrating Genetic Modifier Genotype With Serum Proteomics in Duchenne Muscular Dystrophy Clinical Trials Links LTBP4 Genetic Modifier to IL‐23/CD93 Pathways in Muscle

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic modifiers of Duchenne muscular dystrophy (DMD) that alter disease severity or response to therapy have been reported using natural history or registry data sets of older corticosteroid‐treated patients. We tested associations of genetic modifiers on motor function outcomes in young (4 to < 7 years) steroid naïve clinical trial ...
Utkarsh J. Dang, Yuan Fang, Daniele Sabbatini, Elena Pegoraro, Luca Bello, Paula R. Clemens, Michela Guglieri, John van den Anker, Jesse Damsker, Laura Hagerty, Yetrib Hathout, Michael Ziemba, Lauren Morgenroth, Surajit Bhattacharya, Kanneboyina Nagaraju, Jyoti K. Jaiswal, Eric P. Hoffman   +16 more
wiley   +1 more source

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

High-throughput single telomere analysis using DNA microarray and fluorescent in situ hybridization. [PDF]

Nucleic Acids Res
Zheng YL, Wu X, Williams M, Verhulst S, Lin J, Takahashi Y, Ma JX, Wang Y.   +7 more
europepmc   +1 more source

DNA microarray-based characterization and antimicrobial resistance phenotypes of clinical MRSA strains from animal hosts. [PDF]

J Vet Sci, 2020
Schmitt S, Stephan R, Huebschke E, Schaefle D, Merz A, Johler S.   +5 more
europepmc   +1 more source

Analysis on Microarray Data and DNA Regulatory Elements Prediction

, 2002
Transcription profiling with microarray technology has significantly accelerated our understanding of complex biological processes by allowing the genome-wide measure of message RNA levels.
Lu, Jun
core  

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale, Christopher Tiessen, Vithya Gnanakumar   +2 more
wiley   +1 more source

Dynamic Operations in Macromolecular Data Storage

Angewandte Chemie, EarlyView.
With the exponential growth of digital data and the limitations of conventional silicon‐based storage and computing technologies, macromolecular data storage, the practice of encoding digital information within large, complex molecules like DNA or synthetic polymers, has emerged as a scalable and sustainable alternative to traditional digital ...
Jakub Ossowski, Oskar Affenberger, Jean‐François Lutz, Maria Nerantzaki   +3 more
wiley   +2 more sources

Development of DNA Microarray for Parallel Detection of Community-Acquired Pneumonia Bacterial Pathogens. [PDF]

Sovrem Tekhnologii Med
Sakharnov NA, Filatova EN, Popkova MI, Slavin SL, Utkin OV.   +4 more
europepmc   +1 more source