Results 91 to 100 of about 1,051,028 (293)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness +11 more
wiley +1 more source
The relationship between corpus callosum size and forebrain volume
, 1997 Using high-resolution in vivo magnetic resonance morphometry we measured forebrain volume (FBV), midsagittal size of the corpus callosum (CC) and four CC subareas in 120 young and healthy adults (49 women, 71 men).
Jancke, L. +4 more
core
Axonal pathfinding mechanisms at the cortical midline and in the development of the corpus callosum
Brazilian Journal of Medical and Biological Research, 2002 The corpus callosum is a large fiber tract that connects neurons in the right and left cerebral hemispheres. Agenesis of the corpus callosum (ACC) is associated with a large number of human syndromes but little is known about why ACC occurs.
L.J. Richards
doaj +1 more source
Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert +31 more
wiley +1 more source
In praise of ambidexterity: How a continuum of handedness predicts social adjustment [PDF]
This paper estimates the relationship between handedness and social adjustment. In addition to binary measures of hand preference, we also use a continuous measure of hand skill. Outcomes at ages 7, 11 and 16 are studied.
Wen Zhang, Kevin Denny
core +2 more sources
Agenesis of the corpus callosum in a newborn with Turner mosaicism
Pediatric Reports, 2014 The agenesis of the corpus callosum results from a failure in the development of the largest fiber bundle that connects cerebral hemispheres. Patient’s outcome is influenced by etiology and associated central nervous system malformations.
Ester Pereira +5 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto +5 more
wiley +1 more source
Frontiers in Physics, 2019 Demyelination can be assessed structurally by magnetic resonance imaging (MRI) and functionally with transcranial magnetic stimulation (TMS). Here, we combined these techniques to investigate demyelination of the corpus callosum in multiple sclerosis (MS)
Eric Y. Zhao +16 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman +11 more
wiley +1 more source
A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini +9 more
wiley +1 more source