Results 61 to 70 of about 16,104 (221)
Condotte compulsive in paziente con sindrome di Aicardi. agenesia del corpo calloso [PDF]
, 2013 The corpus callosum, which is the largest white matter structure in the brain of all placental mammals, connects the left and right cerebral hemispheres.
A. Anastasia +6 more
core
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas +7 more
wiley +1 more source
A rare cause of generalized seizures: agenesis and Lipoma of the corpus Callosum
The Pan African Medical Journal, 2014 An 18 years old young patient with no history presented to the emergency department suffering from episodes of generalized seizures and atypical headache without fever, the onset of symptoms dated back to two months.
Ahmed Belkouch, Abdelilah Mouhsine
doaj +1 more source
Children, 2022 Trisomy 8 mosaicism syndrome (T8MS) or “Warkany’s syndrome 2” is a rare chromosomal disorder characterized by three copies of chromosome 8 in some cells of the body.
Carmela Settimo +8 more
doaj +1 more source
The acrocallosal syndrome: A case report and literature survey [PDF]
, 2009 Acrocallosal syndrome (ACS) is a rare, genetically transmitted disorder characterized by facial deformities. These include a large forehead, large anterior fontanelle, broad nasal bridge with increased intercanthal distance, partial or complete agenesis ...
Davies, Lindsey +2 more
core +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To characterize the prenatal sonographic features across different trimesters and genomic spectrum of NONO‐related X‐linked intellectual developmental disorder. Method We analyzed two fetuses presenting with corpus callosum agenesis and rare cardiac anomalies using genome sequencing and exome sequencing.
Yilin Zhao +13 more
wiley +1 more source
Age and interhemispheric transfer time: A failure to replicate. [PDF]
, 1997 In a recent study with the Poffenberger paradigm, Brizzolara et al. reported longer estimates of interhemispheric transfer time (IHTT) for children aged 7 years than for adults. They interpreted this finding as evidence for incomplete functional maturity
Brysbaert, M. +2 more
core +1 more source
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
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
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