Results 61 to 70 of about 167,788,531 (210)
Frontiers in Genetics, 2019 Agenesis of the corpus callosum (ACC) is a birth defect in which the corpus callosum is either partially or completely missing. With recent advances in prenatal ultrasound, detection of ACC in obstetric practices is becoming more common.
Ying Jiang +9 more
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Clinical Genetics, EarlyView.Heterozygous de novo nonsense variants in the penultimate and last exons of NUSAP1 were identified in two unrelated individuals, predicted to escape NMD. In population data, nonsense variants were observed in exons 1–9 (of 11) in NUSAP1 but were absent from its 3′‐terminal region.
Maureen Jacob +15 more
wiley +1 more source
Agenesis of the corpus callosum [PDF]
, 2018 Agenesis of the corpus callosum is not particularly common; its incidence in institutions where a great number of air encephalographic studies are done is said to be 3 %.
Boucher, Ian A.D.
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Developmental Medicine &Child Neurology, EarlyView.Abstract Aim To characterize reported perinatal complications and childhood neurological diagnoses among children with COL4A1/2 variants and explore associations between mode of delivery and selected neurological outcomes. Method This was a retrospective cross‐sectional patient registry study using surveys collected through the Gould Syndrome ...
Shraddha Pandey +3 more
wiley +1 more source
Partial 13 monosomy with corpus callosum agenesis and other congenital abnormalities – a case report [PDF]
, 2018 University of Medicine and Pharmacy of Targu Mures, RomaniaBackground. The corpus callosum comprises the largest tract of nerve fibres in the human brain. It is developed from the telencephalon starting in the 11th week of foetal life.
Miron, Andreea-Iuliana +4 more
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Journal of Paediatrics and Child Health, EarlyView.ABSTRACT Background Retinopathy of prematurity (ROP) is a neurovascular disorder that may affect not only the retina but also the brain structures involved in visual processing. The relationship between ROP severity and the volumetric development of these regions remains unclear.
Jose Uberos +8 more
wiley +1 more source
Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency
Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.ABSTRACT Primary pyruvate dehydrogenase complex deficiency (PDCD) comprises a group of monogenic disorders caused by pathogenic variants in genes encoding subunits of, or regulatory components affecting, the pyruvate dehydrogenase complex. The clinical phenotype spans a broad continuum, ranging from early onset congenital lactic acidosis to infantile ...
Nandaki Keshavan +23 more
wiley +1 more source
The corpus callosum (CC) is a group of white matter tracts that span the left and right cerebral hemispheres. It connects the frontal, parietal, temporal, occipital, insular, and limbic lobes and the basal ganglia of the hemispheres to each other. In the
Kanat, Ayhan
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Neuroplasticity in an Adolescent with Corpus Callosum Agenesis Associated with Epilepsy
Revista Finlay, 2021 Neural plasticity represents the brain's ability to recover and restructure itself, allowing it to recover from disorders or injuries and reduce the effects of structural alterations, whether congenital or acquired. The agenesis of the corpus callosum is
Dámaris González Vidal +2 more
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