Results 41 to 50 of about 10,101 (182)
Journal of Medical UltrasoundThe corpus callosum is the major interhemispheric tract that plays an important role in neurological function. Understanding the etiology and embryology development helps the ultrasound diagnosis for disorders of the corpus callosum and further ...
Fang-Tzu Wu, Chih-Ping Chen
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Molecular Cytogenetics, 2011 Background Partial Trisomy 11q syndrome (or Duplication 11q) has defined clinical features and is documented as a rare syndrome by National Organization of Rare Disorders (NORD).
Lall Meena +5 more
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Epileptic Disorders, EarlyView.Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman +7 more
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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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Journal of Clinical Laboratory Analysis, EarlyView.Distal 1q43q44 deletions lead to a consistent neurodevelopmental phenotype characterized by microcephaly, corpus callosum abnormalities, and developmental delay. Despite differences in genomic architecture, overlapping deletions affecting dosage‐sensitive genes such as AKT3, HNRNPU, and ZBTB18 define the core phenotype.
Ma. Guadalupe Domínguez‐Quezada +6 more
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Movement Disorders Clinical Practice, EarlyView.Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño +6 more
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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
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Corpus Callosum Agenesis and Osseous Lesions
Pediatric Neurology Briefs, 1993 A new mental retardation syndrome with agenesis of the corpus callosum and unusual bone changes is reported from the Departments of Radiology and Neurology, Royal Alexandra Hospital for Children, Camperdown, Sydney, NSW, Australia.
J Gordon Millichap
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Real‐Time Targeted Slice Reacquisition for Motion‐Corrupted Fetal Diffusion MRI
Magnetic Resonance in Medicine, EarlyView.ABSTRACT Purpose To develop and evaluate a real‐time framework for targeted slice‐level reacquisition in fetal diffusion MRI. Methods A DW‐SE‐EPI sequence was modified to support independent diffusion preparation per slice. A pathology‐robust nnU‐Net segmentation network, updated from a previously published baseline (V1) using pathological fetal cases ...
Jordina Aviles Verdera +7 more
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Clinical Features of Corpus Callosum Agenesis
Pediatric Neurology Briefs, 2006 The clinical and genetic characteristics of 63 patients with agenesis of the corpus callosum (ACC) are reported from the Scientific Institute “E Medea,” Italy.
J Gordon Millichap
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