Results 71 to 80 of about 11,896 (240)
JPGN Reports, Volume 6, Issue 4, Page 394-399, November 2025.Abstract Baraitser‐Winter cerebrofrontofacial syndrome (BWCFF) is a rare congenital anomaly syndrome that can present with characteristics in multiple organ systems. These can include pachygyria, intellectual disability, seizures, congenital heart defects, renal malformations and gastrointestinal dysfunction.
Veronica Lee +4 more
wiley +1 more source
DCX knockout ferret reveals a neurogenic mechanism in cortical development
Cell ReportsSummary: Lissencephaly is a rare brain malformation for which our understanding remains limited due to the absence of suitable animal models that accurately represent human phenotypes.
Wei Wang +12 more
doaj +1 more source
Malformações do desenvolvimento cortical: conceitos atuais e revisão de neuro-imagem avançada [PDF]
, 2011 Malformations of cortical development (MCD) result from disruptions in the complex process of the human brain cortex formation and are highly associated to severe epilepsy, neurodevelopmental delay and motor dysfunction.
ANDRADE, Celi Santos +1 more
core +2 more sources
Diagnosis and treatment of occipital brain lesions in children
Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1409-1420, November 2025.Occipital brain lesions in children represent a diagnostic challenge due to the large spectrum of etiologies and overlapping clinical features. This review analyses common and less common causes of occipital brain lesions in children, including malformative, vascular, genetic/metabolic, infectious, inflammatory, and neoplastic conditions.
Luca Bartolini +4 more
wiley +1 more source
Neurobiology of DiseaseProper topographically organized neural connections between the thalamus and the cerebral cortex are mandatory for thalamus function. Thalamocortical (TC) fiber growth begins during the embryonic period and completes by the third trimester of gestation ...
Sheng-Min Huang +4 more
doaj +1 more source
eLife, 2020 Type I lissencephaly is a neuronal migration disorder caused by haploinsuffiency of the PAFAH1B1 (mouse: Pafah1b1) gene and is characterized by brain malformation, developmental delays, and epilepsy.
Tyler G Ekins +6 more
doaj +1 more source
MALFORMATIONS OF CENTRAL NERVOUS SYSTEM: GENERAL ISSUES [PDF]
, 2013 Malformations of the central nervous system (CNS) encompass a heterogeneous group of congenital anomalies that may be isolated or appear as part of a genetic syndrome.
Alongi,A +9 more
core
Identification of Alternative Transcription Start Sites that Generate Neuron-Specific nhsl1b Isoform that Regulates Neuron Migration [PDF]
, 2020 Identification of Alternative Transcription Start Sites that Generate Neuron-Specific nhsl1b Isoform that Regulates Neuron Migration Abanoub Bector, Depts. of Biology and Chemistry, with Dr. Sarah Golding, Dept.
Bector, Abanoub
core +1 more source
Neocortical neurogenesis: a proneural gene perspective
The FEBS Journal, Volume 292, Issue 21, Page 5580-5610, November 2025.The neocortex is a mammalian‐specific brain region responsible for higher‐order cognitive functioning that shares fundamental similarities across species, but which is larger and more complex in humans. Proneural genes, encoding basic helix–loop–helix transcription factors (TFs), are evolutionarily conserved drivers of neurogenesis from fly to human ...
Lakshmy Vasan +3 more
wiley +1 more source
eLife, 2020 Layering has been a long-appreciated feature of higher order mammalian brain structures but the extent to which it plays an instructive role in synaptic specification remains unknown.
James A D'Amour +4 more
doaj +1 more source