Punctate White Matter Abnormality in Moderate‐to‐Late Preterm Infants
Objective Moderate‐to‐late preterm (MLP) infants contribute to the greatest proportion of preterm children with neurodevelopmental impairments. White matter injury (WMI) is common and predicts adverse outcomes in very preterm (VP) infants. However, little is known about white matter abnormality (WMA) in MLP infants.
Eleanor Kennedy+13 more
wiley +1 more source
PD-1-Enhanced Treg Cell Senescence in Advanced Maternal Age. [PDF]
Gong GS+4 more
europepmc +1 more source
Family social class, maternal body mass index, childhood body mass index, and age at menarche as predictors of adult obesity [PDF]
Jaana Laitinen+2 more
openalex +1 more source
Objective The objective of this study was to show the capacity of structural brain magnetic resonance imaging (MRI) measures to serve as monitoring biomarkers for Fragile X‐Associated Tremor/Ataxia Syndrome (FXTAS). Methods From 2 longitudinal studies of male FMR1 premutation carriers, 2 brain MRI scans were selected from each participant, collected ...
David Hessl+6 more
wiley +1 more source
Perspectives of Women of Advanced Maternal Age on Telephonic Genetic Counselling in a South African Public Healthcare Setting. [PDF]
Bayley S, Malope M, Laing N.
europepmc +1 more source
Objective A growing body of evidence indicates a strong genetic overlap between developmental and epileptic encephalopathies (DEEs) and movement disorders. De novo loss‐of‐function variants in NUS1 have been recently identified in DEE cases. Herein, we report a large cohort of cases with pathogenic NUS1 variants and describe their clinical presentation
Sarah M. Brooker+79 more
wiley +1 more source
Maternal and paternal age at delivery, birth order, and risk of childhood onset type 1 diabetes: population based cohort [PDF]
Lars C. Stene
openalex +1 more source
HCN2‐Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models
Objective We aimed to characterize the phenotypic spectrum and functional consequences associated with variants in HCN2, encoding for the hyperpolarization‐activated cyclic nucleotide (HCN) gated channel 2. Methods GeneMatcher facilitated the recruitment of 21 individuals with HCN2 variants from 15 unrelated families, carrying HCN2 variants.
Clara Houdayer+52 more
wiley +1 more source
Application of Chromosomal Karyotype Analysis Combined With Chromosomal Microarray Analysis in the Amniotic Fluid of Advanced Maternal Age. [PDF]
Liu C, Lu Y, Zhang B, Yu L, He J, Ji Y.
europepmc +1 more source