Microbiota Medicine Research, EarlyView.ABSTRACT The growing recognition of the microbiome's role in human health has propelled the emergence of microbiota medicine—a new discipline integrating microbiology, multi‐omics, and clinical science. Advances in sequencing, data integration, and interventions such as fecal microbiota transplantation (FMT) have transitioned the field from ...
Min Dai +6 more
wiley +1 more source
Diagnostic Yield and Genotype-Phenotype Overlap in Pediatric Autism Spectrum Disorder Patients Using Whole-Exome Sequencing and Phenotype-Driven Variant Interpretation: A Single-Center Cohort Study. [PDF]
Children (Basel)Yaneva A +5 more
europepmc +1 more source
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 +12 more
wiley +1 more source
Pediatric Investigation, EarlyView.Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil +2 more
wiley +1 more source
The Neuroprotective Effect of a Waste Byproduct Obtained From Pomegranate (Punica granatum)
Phytotherapy Research, EarlyView.The Effect of a Waste Byproduct Obtained From Pomegranate on Neurodegeneration. ABSTRACT Pomegranate is an exceptional fruit that can have several beneficial effects on human health. The peel of pomegranate, a waste product, should be recovered as it still contains valuable constituents, including phenolic compounds, minerals and fibre. The recovery of
Jessica Maiuolo +11 more
wiley +1 more source
The emergence of network inefficiencies in infants with autism spectrum disorder [PDF]
, 2017 Botteron, Kelly N +3 more
core +1 more source
The oscillatory response of the electroretinogram and neuronal adaptation
Acta Ophthalmologica, EarlyView.Abstract After more than 50 years, there still remains a challenge and an interest to know more as well as extend and deepen our understanding of the small rapid wavelets, the oscillatory potentials (OPs), of the electroretinogram (ERG) and the neuronal adaptation of the retina.
Lillemor Wachtmeister, Anders Eklund
wiley +1 more source
Expansion of the Phenotypic Spectrum of TNRC6B-Related Neurodevelopmental Disorder in a Three-Generation Family with 22q13.1 Deletion. [PDF]
Genes (Basel)Archer J +4 more
europepmc +1 more source
Acta Paediatrica, EarlyView.ABSTRACT Aim This systematic review explored associations between brain structural volumes and behavioural outcomes in children born preterm up to 32 weeks of gestation. Methods PubMed, PsycINFO, Scopus and Web of Science were searched for papers published in English from 1 January 2013 to 7 November 2023.
Yolanda Marín Almagro +5 more
wiley +1 more source
Congenital disorder of deglycosylation 2. Report of a novel <i>MAN2C1</i> pathogenic variant and additional phenotypic implications. [PDF]
Mol Genet Metab RepAguirre-Guillen RL +7 more
europepmc +1 more source