Characterization of 843 children with Zika-related microcephaly in the first three years of life: An individual participant data meta-analysis of 12 cohorts in the Zika Brazilian Cohorts consortium. [PDF]
Miranda-Filho DB +48 more
europepmc +1 more source
ZSWIM8, an E3 ubiquitin ligase that broadly targets IDR‐rich proteins, drives MiR‐7‐dependent AGO2 degradation and the turnover of many RBPs. Loss of ZSWIM8 leads to MiR‐7 accumulation in oligodendrocyte progenitor cells and myelination defects in the developing brain. ABSTRACT Proteostasis of proteins with intrinsically disordered regions (IDRs) is of
Jing Lei +13 more
wiley +1 more source
Zika Virus and Congenital Zika Syndrome: Special Issue Editorial. [PDF]
da Silva Pone MV, Pone SM.
europepmc +1 more source
Prenatal Diagnosis of Malformations of Cortical Development: A Review of Genetic and Imaging Advances. [PDF]
Hu J +6 more
europepmc +1 more source
Longitudinal Behavior Phenotype Hallmarks in RNU4‐2 Syndrome: Implications for Clinical Management
ABSTRACT Pathogenic variants in the non‐coding spliceosomal gene RNU4‐2 underlie ReNU syndrome, one of the most prevalent monogenic causes of neurodevelopmental disorders, accounting for ~0.4% of cases. Despite increasing recognition, little is known about the longitudinal behavioral and neuropsychiatric phenotype of affected individuals. We report two
Paola Francesca Ajmone +8 more
wiley +1 more source
Novel <i>RAD50</i> variants lead to Nijmegen Breakage Syndrome-like disorder and unplanned recombinant human growth hormone treatment response. [PDF]
Gong Y, Jiang M, Wu S, Guo S, Lyu Y.
europepmc +1 more source
Bioimaging of the sense organs and brain of fishes and reptiles. Left panel: 3D reconstruction of the head and brain of the deep‐sea viperfish Chauliodus sloani following diceCT. Right panel: A 3D reconstruction of a 70‐day‐old embryo head of the bearded dragon Pogona vitticeps following diceCT, showing the position of the segmented brain within the ...
Shaun P. Collin +9 more
wiley +1 more source
Prenatal Diagnosis of a Feingold Syndrome Pregnancy Complicated with Severe Preeclampsia: A Report of a Challenging Case. [PDF]
Samara AA +9 more
europepmc +1 more source
A Fully-Integrated Bayesian Approach for the Imputation and Analysis of Derived Outcome Variables With Missingness. [PDF]
Campbell H, Morris TP, Gustafson P.
europepmc +1 more source
Abstract Prenatal Exome Sequencing (pES) increases the diagnostic rate for genetic disorders in pregnancies with structural abnormalities and substantially impacts parental decision‐making regarding pregnancy continuation or termination. Previous qualitative research on parental experiences of pES has typically been performed several months after ...
Maayke A. de Koning +6 more
wiley +1 more source

