Results 11 to 20 of about 7,462 (203)
Coexisting Congenital Mesoblastic Nephroma and Lissencephaly: Unique Case Report with Pathological Analysis and Its Clinical Significance [PDF]
BiomedicinesBackground: Congenital mesoblastic nephroma represents 3–10% of all pediatric renal tumors. With the advancement of ultrasound diagnostics and magnetic resonance imaging, the diagnosis of this renal neoplasm is increasingly being established prenatally ...
Hristina Zakić +5 more
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TUBGCP2 variants cause lissencephaly spectrum disorders: a case report and literature review [PDF]
Frontiers in PediatricsBackgroundTUBGCP2 variants are associated with the LIS spectrum disorders, but its pathogenesis remains unclear. To retrospectively analyze the clinical features and genetic information of patients having lissencephaly spectrum disorders associated with ...
Tao Yu, Miao Yu, Xueyan Liu, Hua Wang
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GENOTYPE-PHENOTYPE CORRELATION IN CASES WITH LISSENCEPHALY SPECTRUM
Sabiad, 2022 Objective: In this study, we aimed to evaluate six cases diagnosed with lissencephaly in terms of the genotype-phenotype correlation. Materials and Methods: Six cases with lissencephaly, which were followed up in our outpatient clinic, were included in ...
Ayça Dilruba Aslanger +4 more
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Cytomegalovirus infection with lissencephaly
Indian Journal of Pathology and Microbiology, 2008 Lissencephaly is a malformation of the brain in which the brain surface is smooth, rather than convoluted. Among the various causes of lissencephaly, infection by a virus during pregnancy plays an important role.
Joseph Leena +2 more
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Prenatal diagnosis of lissencephaly: A case report [PDF]
Vojnosanitetski Pregled, 2016 Introduction. Lissencephaly (“smooth brain”) forms a major group of brain malformations due to abnormal neuronal migration. It can cause severe intellectual and motor disability and epilepsy in children.
Cerovac Nataša +5 more
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Lissencephaly in Shih Tzu dogs
Acta Veterinaria Scandinavica, 2020 Background Lissencephaly is a brain malformation characterized by smooth and thickened cerebral surface, which may result in structural epilepsy. Lissencephaly is not common in veterinary medicine.
Diego Noé Rodríguez-Sánchez +4 more
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Lissencephaly in a Pekingese [PDF]
Journal of Veterinary Medical Science, 2017 A 1-year-old neutered male Pekingese was presented for evaluation and further treatment of cluster seizures. The dog had behavioral abnormalities, and a prosencephalic lesion was suspected following neurological examination. The dog showed signs of learning difficulty. Magnetic resonance imaging of the brain revealed a remarkably smooth cerebral cortex
SHIMBO, Genya +4 more
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Perampanel in lissencephaly-associated epilepsy
Epilepsy and Behavior Case Reports, 2019 We retrospectively investigated whether perampanel (PER) could serve as an alternative for treating drug-resistant seizures in lissencephaly. We investigated the following data: age at onset of epilepsy, age at start of PER, etiology, brain MRI findings,
Satoru Ikemoto +4 more
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Fetal Presentation of Walker-Warburg Syndrome With a Novel POMT1 Splice-Altering Variant: Antenatal Imaging, Postmortem MRI, Autopsy, and Molecular Correlation. [PDF]
Clin Case RepABSTRACT Walker–Warburg syndrome (WWS) is a fatal autosomal recessive disorder characterized by brain and eye malformations, and prenatal diagnosis relies heavily on neuroimaging findings to guide targeted genetic screening. Here, we describe a distinctive second‐trimester fetal imaging pattern observed in two siblings.
Zhang J +8 more
europepmc +2 more sources
Pediatric Neurology Briefs, 1990 The diagnostic features and clinical signs of 21 patients with lissencephaly type I are reviewed from the Department of Neurology, Westeinde Hospital, The Hague, The Netherlands; the Departments of Child Neurology, Academic Medical Centre, Amsterdam, and
J Gordon Millichap
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