Results 91 to 100 of about 17,135 (242)
Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Central Nervous System Abnormalities
Prenatal Diagnosis, EarlyView.ABSTRACT Objectives This study demonstrates the central nervous system (CNS) abnormalities detected using fetal post‐mortem micro‐focus computed tomography (Micro‐CT), independent of whether the abnormality contributed to the main diagnosis or cause of death.
Ian C. Simcock +5 more
wiley +1 more source
Hydrocephalus in dogs: a review
Veterinární Medicína, 2013 Hydrocephalus is a multifactoral disorder that was rarely diagnosed in dogs until the availability of advanced imaging techniques in veterinary practice.
P. Przyborowska +3 more
doaj +1 more source
Ultrasound in Obstetrics &Gynecology, EarlyView.ABSTRACT Objectives Cytomegalovirus (CMV) is the leading cause of congenital infectious neurosensory impairment. We aimed to present national epidemiological data on maternal CMV infection during pregnancy in France, focusing in particular on primary infection in the periconceptional period or first trimester, and to assess the impact of changes in ...
P. Coste‐Mazeau +6 more
wiley +1 more source
ALDH7A1 Deficiency and Pyridoxine-Dependent Epilepsy
Pediatric Neurology Briefs, 2010 Researchers at University College and Great Ormond Street Hospital for Children, London, and other centers in the UK and Europe investigated the genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (PDE) by measurement of urinary alpha ...
J Gordon Millichap
doaj +1 more source
Exploring the Impact of RNU4‐2 Defects on Neurodevelopmental Disorders in a Korean Population
Clinical Genetics, EarlyView.Among 15 450 Korean individuals, noncoding RNU4‐2 variants, primarily the recurrent de novo n.64_65insT, make up 0.72% of neurodevelopmental disorders. Modeling and RNA‐seq suggest U4/U6 disruption and abnormal 5′ splice‐site selection, supporting routine use of WGS analysis for reanalyzing unresolved cases. ABSTRACT Neurodevelopmental disorders (NDDs)
Juhyeon Hong +20 more
wiley +1 more source
Porohyperelastic anatomical models for hydrocephalus and idiopathic intracranial hypertension [PDF]
, 2015 This is the accepted manuscript of a paper published in the Journal of Neurosurgery, Published online February 6, 2015; DOI: 10.3171/2014.12.JNS14516.OBJECT Brain deformation can be seen in hydrocephalus and idiopathic intracranial hypertension (IIH) via
, +10 more
core +2 more sources
Clinical Genetics, EarlyView.We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw +30 more
wiley +1 more source
Taiwanese Journal of Obstetrics & Gynecology, 2009 Objective: To present the prenatal magnetic resonance imaging (MRI) and ultrasound findings of Miller-Dieker lissencephaly syndrome (MDLS) associated with chromosome 17p13.3 deletion in a fetus.
Chin-Yi Lin +6 more
doaj +1 more source
Journal of Neuropsychology, EarlyView.Abstract This study investigated Theory of Mind (ToM) deficits in patients with suspected idiopathic normal pressure hydrocephalus (iNPH), a condition affecting motor, cognitive and autonomic functions. Given the overlap between ToM‐related neural networks and those affected in iNPH, we examined whether ToM impairments are a feature of the disease ...
Akrivi Vatsi +9 more
wiley +1 more source
Prenatal diagnosis of proximal focal femoral deficiency: Literature review of prenatal sonographic findings [PDF]
, 2016 Proximal focal femoral deficiency (PFFD) is a rare musculoskeletal malformation that occurs in 0.11-0.2 per 10,000 live births. This congenital anomaly involves the pelvis and proximal femur with widely variable manifestations, from mild femoral ...
Aikten +33 more
core +1 more source