Results 221 to 230 of about 413,653 (281)

CUL3‐Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Pathogenic variants of the CUL3 gene are known to cause a neurodevelopmental disorder with a partially described prenatal phenotype. This study further characterizes and expands the spectrum of prenatal sonographic findings associated with the disorder to improve prenatal diagnosis and counseling.
Yoel Gofin, Tania Dery, Tamar Tenne, Racheli Goldfarb Yaacobi, Emilie Block, Marina Lifshitc Kalis, Hagar Mor‐Shaked, Liza Douiev‐Charpak, Rivka Birnbaum, Mordechai Shohat, Ofer Markovich, Debora Kidron, Rivka Sukenik‐Halevy   +12 more
wiley   +1 more source

Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Central Nervous System Abnormalities

Prenatal Diagnosis, EarlyView.
ABSTRACT Objectives This study demonstrates the central nervous system (CNS) abnormalities detected using fetal post‐mortem micro‐focus computed tomography (Micro‐CT), independent of whether the abnormality contributed to the main diagnosis or cause of death.
Ian C. Simcock, Audrey Lamouroux, Susan C. Shelmerdine, J. Ciaran Hutchinson, Neil J. Sebire, Owen J. Arthurs   +5 more
wiley   +1 more source

Diagnostic accuracy of rib fracture detection in forensic post-mortem photon counting CT. [PDF]

Int J Legal Med
Lombardo P, Hartmann C, Fridle C, von Tengg-Kobligk H, Ruder TD, Zech WD.   +5 more
europepmc   +1 more source

Single‐Cell Nanodroplet Processing Proteomics Pipeline for Analysis of Human‐Derived Microglia

PROTEOMICS, EarlyView.
ABSTRACT Single‐cell omics tools provide unique insights into heterogeneous cell populations and their responses to stimuli. For example, single‐cell RNA sequencing has identified several transcriptionally distinct populations of microglia, which are resident immune cells of the central nervous system (CNS) that are responsive to CNS injury, infection,
Ashley N. Ives, James M. Fulcher, Alex R. Bautista, Reta Birhanu Kitata, Sarah M. Williams, David A. Bennett, Philip L. De Jager, Vladislav A. Petyuk   +7 more
wiley   +1 more source

MicroRNA profiling in post-mortem spinal cord of C9ORF72-related ALS patients reveals molecular pathways involved in motor neuron degeneration. [PDF]

Front Neurosci
Farinazzo G, Giagnorio E, Marcuzzo M, Cattaneo M, Malacarne C, Cavalcante P, Bonanno S, Maderna E, Pensato V, Gellera C, Marucci G, Mazzetti S, Salvi E, Lauria G, Marcuzzo S.   +14 more
europepmc   +1 more source

Post-mortem validation of in vivo TSPO PET as a microglial biomarker. [PDF]

Brain
Wijesinghe SS, Rowe JB, Mason HD, Allinson KSJ, Thomas R, Vontobel DS, Fryer TD, Hong YT, Bacioglu M, Spillantini MG, van den Ameele J, O'Brien JT, Kaalund S, Malpetti M, Quaegebeur A.   +14 more
europepmc   +1 more source