Results 71 to 80 of about 15,902 (210)
Prenatal Diagnosis, EarlyView.ABSTRACT The clinical utility of sequencing in prenatal diagnosis is known, but diagnostic yield varies widely depending on clinical indication. Here we update an earlier systematic review reporting the diagnostic yield of prenatal sequencing in structurally abnormal fetuses, with particular focus on factors affecting diagnostic yield.
Karen Mei Xian Lim +5 more
wiley +1 more source
Sex differences and other correlations of Human Corpus Callosum: A review
National Journal of Clinical Anatomy, 2017 There is a wide spectrum in the field of sex differences and other correlation in human corpus callosum. More recent literatures have raised doubts as to whether the anatomic size of the corpus is actually different.
D K Sharma
doaj +1 more source
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. [PDF]
, 2007 Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is a common and clinically distinct form of familial spastic paraplegia that is linked to the SPG11 locus on chromosome 15 in most affected families. We analyzed
AZZEDINE H +24 more
core
Proverb comprehension in individuals with agenesis of the corpus callosum [PDF]
, 2016 Comprehension of non-literal language involves multiple neural systems likely involving callosal connections. We describe proverb comprehension impairments in individuals with isolated agenesis of the corpus callosum (AgCC) and normal-range general ...
Brown, Warren S. +2 more
core +1 more source
L1CAM Promotes the Infiltrative Properties of Patient‐Derived Glioblastoma Cells
Cancer Science, EarlyView.In vivo validation of L1CAM‐mediated GBM infiltration. Orthotopic transplantation of L1CAM‐expressing GBM cells into mouse brains demonstrated that L1CAM significantly promotes tumor cell infiltration and expansion in the brain parenchyma, confirming its critical role in the aggressive progression of GBM.
Asako Katsuma +10 more
wiley +1 more source
Social and Behavioral Problems of Children with Agenesis of the Corpus Callosum
, 2007 Archival data from a survey of parent observations was used to determine the prevalence of social and behavioral problems in children with agenesis of the corpus callosum (ACC).
Andrews, Glena +6 more
core +1 more source
Development, specification, and diversity of callosal projection neurons [PDF]
, 2013 Callosal projection neurons (CPN) are a diverse population of neocortical projection neurons that connect the two hemispheres of the cerebral cortex via the corpus callosum.
Fame, Ryann M. +2 more
core +1 more source
Clinical Genetics, EarlyView.This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau +7 more
wiley +1 more source
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
doaj
Genetic Diagnoses Among Congenital Anomaly Cases in Europe: Data From the EUROCAT Network
Paediatric and Perinatal Epidemiology, EarlyView.ABSTRACT Background Surveillance of congenital anomaly prevalence over time can identify new teratogens. Anomalies with a genetic cause are excluded from the monitoring. Objectives We examined temporal changes in the proportion of genetic diagnoses among cases with a congenital anomaly.
Jorieke E. H. Bergman +23 more
wiley +1 more source