Results 181 to 190 of about 60,975 (259)
Clinical Genetics, EarlyView.We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw +30 more
wiley +1 more source
Phenotypic Expansion and Molecular Implications in Recessive FUZ‐Related Ciliopathy
Clinical Genetics, EarlyView.Our patient with homozygous FUZ p.Arg234Trp, potentially altering FUZ‐CPLANE2 interactions, presented with aorto‐pulmonary window, Hirschsprung disease, and shared phenotypes with previously reported ciliopathy patients. This report provides additional evidence for FUZ as a causative gene for ciliopathy, offering novel insights into the phenotype ...
Yosuke Ogawa +4 more
wiley +1 more source
Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants
Clinical Genetics, EarlyView.SEMA6A plays a role in cell migration and axon guidance in the developing central nervous system. Phenotypes seen in eleven individuals heterozygous for SEMA6A variants included developmental delay, intellectual disability, autism/autistic behaviors, behavioral abnormalities, attention disorders, hypotonia, and brain anomalies.
Evan Burchfiel +27 more
wiley +1 more source
Cell Proliferation, EarlyView.By assembling cortical‐hypothalamic circuits, we show that cortical input protects hypothalamic neurons from fatty acid‐induced damage, which activates PGC1α to boost mitochondrial function. This reveals a cortico‐hypothalamic axis that defends against metabolic stress.
Mengdan Tao +10 more
wiley +1 more source
Early neurodevelopmental outcome in newborns with mild hypoxic‐ischaemic encephalopathy
Developmental Medicine &Child Neurology, EarlyView.Aim To describe the natural history of newborn children with mild hypoxic‐ischaemic encephalopathy in the first year of life. Method This was a multicentre, prospective observational study involving five neonatal intensive care units in an Italian region using both structured clinical and neurophysiological assessments according to the Italian Society ...
Domenico M. Romeo +16 more
wiley +1 more source
Developmental Medicine &Child Neurology, EarlyView.At 2 years, 10 years, and 15 years, the presence of early white matter injury (WMI) moderated associations between lower social risk and cognitive functioning in the social disadvantage index group x WMI interactions for combined abilities. Findings suggest that the benefits of low social risk were present in those without early WMI, but are ...
Stephen R. Hooper +10 more
wiley +1 more source
Developmental Medicine &Child Neurology, EarlyView.This study evaluated the Total Abnormality Score (TAS) from cMRI at term‐equivalent age as a predictor of cerebral palsy (CP) in 137 infants born preterm or with low birthweight. Infants who developed CP had significantly higher TAS values (median 11 vs 2), with a TAS cut‐off of 9.5 demonstrating high sensitivity (88.9%) and specificity (91.4%) for CP ...
Anne‐Kathrin Dathe +6 more
wiley +1 more source
Effect of modeling subject-specific cortical folds on brain injury risk prediction under blunt impact loading. [PDF]
Biomech Model MechanobiolTripathi A +5 more
europepmc +1 more source
Concurrent validity and agreement of Bayley‐4, AIMS, and HINE assessments in 1‐year‐old children
Developmental Medicine &Child Neurology, EarlyView.In this cross‐sectional study of children around 1‐year‐old, the Bayley‐4 showed concurrent validity and moderate to substantial agreement with the AIMS and the HINE in both clinical and home settings. Abstract Aim To examine concurrent validity between the Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley‐4) gross motor subtest ...
Weiyang Deng +14 more
wiley +1 more source
Characteristics of brain computed tomography in dementia with cardiovascular disease and psychological and behavioral symptoms. [PDF]
Front NeurolDong Q +6 more
europepmc +1 more source