Results 201 to 210 of about 317,190 (282)

Childhood internalising symptoms at ages 3 and 6: a meta‐analysis of epigenome‐wide associations from cord and peripheral blood

Journal of Child Psychology and Psychiatry, EarlyView.
Background Pre‐ and postpartum environments and genetic effects influence childhood internalising problems, which increase depression risk. DNA methylation (DNAm) may capture some of these effects. We therefore investigated associations between child blood DNAm and internalising problems.
Laura Schellhas, Mannan Luo, Janine F. Felix, Christian M. Page, Mona Bekkhus, Marcus R. Munafò, Luisa Zuccolo, Alexandra Havdahl, Charlotte A.M. Cecil, Gemma C. Sharp   +9 more
wiley   +1 more source

Concordance of fluorescence in situ hybridization, whole-exome sequencing, and chromosomal microarray for evaluating high-risk molecular features in meningiomas. [PDF]

Neurooncol Adv
Crumley B, Russler-Germain E, Dahiya S.
europepmc   +1 more source

Feasibility of Functional Near‐Infrared Spectroscopy in Assessing Prefrontal Cortical Activation During Behaviour Inhibition in Williams Syndrome

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Williams syndrome (WS) is a genetic condition associated with neurodevelopmental disorders including intellectual disability and executive functioning (EF) deficits. Although neuroimaging methods may clarify the neural basis of these impairments, participant burden and frequent exclusion of individuals with lower cognitive abilities
Emma E. Condy, Maeve Sargeant, Audrey Thurm, Mark Levin, Amir Gandjbakhche, Beth A. Kozel   +5 more
wiley   +1 more source

Diagnostic yield of chromosomal microarray analysis and exome sequencing in fetuses with central nervous system anomalies, with long-term follow-up: a single-center study over a 17-year period. [PDF]

Arch Gynecol Obstet
Feodorovici K, Klinkhammer H, Strizek B, Gembruch U, Geipel A.   +4 more
europepmc   +1 more source

Expanding the Clinical Spectrum of DHX30‐Related Neurodevelopmental Disorder: A Case Report and a Scoping Review

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Whole exome sequencing (WES) has improved diagnostic rates for neurodevelopmental disorders (NDDs) while introducing challenges in novel variant interpretation. DHX30‐related NDD (DHX30‐NDD) is a recently described condition with an evolving phenotypic spectrum.
Nattaporn Tassanakijpanich, Areerat Hnoonual, Oradawan Plong‐On, Pornprot Limprasert   +3 more
wiley   +1 more source

Integrated Prenatal Genetic Evaluation of Renal Agenesis: Chromosomal Microarray Analysis, Whole Exome Sequencing, and Outcome Correlations in 203 Fetuses. [PDF]

Genes (Basel)
Zhang N, Huang R, Fu F, Zhou H, Li R, Liao C.   +5 more
europepmc   +1 more source

Lessons from clinical and genetic characterization of intellectual disability

Developmental Medicine &Child Neurology, EarlyView.
Fuki Marie Hisama
wiley   +1 more source

Transcriptomic profiling of subpopulations of mouse embryonic subplate neurons

Journal of Anatomy, EarlyView.
To study gene expression in subpopulations of cortical subplate neurons (Lpar1‐EGFP‐positive and D1B‐positive SpN clusters), we applied gene expression profiling, including bulk microarray analysis, single‐cell RNA sequencing (scRNA‐seq), and Visium spatial transcriptomics, and identified both overlapping and unique gene expression signatures ...
Hitomi Achiwa, Yuichiro Hara, Hideya Kawaji, Minori Oshima, Noe Kaneko, Ayumu Morioka, Anna Hoerder‐Suabedissen, Zoltán Molnár, Chiaki Ohtaka‐Maruyama   +8 more
wiley   +1 more source

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

Clin Genet
Birnbaum R, Slovik M, Zenvirt S, Livyatan I, Altman I, Gershon S, Rips J, Daum H, Rosenbluh C, Elpeleg O, Meiner V, Frumkin A, Mor-Shaked H, Harel T.   +13 more
europepmc   +1 more source