Results 81 to 90 of about 11,022 (215)

Double Cortex Syndrome

open access: yesPediatric Neurology Briefs, 1999
The incidence of mutations in the X-linked gene doublecortin in patients with “double cortex” syndrome (DC; also called subcortical band heterotopia or laminar heterotopia) and familial DC with lissencephaly was investigated in a cohort of 8 pedigrees ...
J Gordon Millichap
doaj   +1 more source

A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion [PDF]

open access: yes, 2014
Background: Infantile spasms (IS) is a specific type of epileptic encephalopathy associated with severe developmental disabilities. Genetic factors are strongly implicated in IS, however, the exact genetic defects remain unknown in the majority of cases.
An, Yu   +10 more
core   +1 more source

3D Hydrogel Cell Cultures and Their Biomedical Applications

open access: yesAdvanced NanoBiomed Research, Volume 6, Issue 3, March 2026.
The review highlights the advantages of hydrogel‐based 3D cell cultures over traditional 2D models. These hydrogels closely mimic natural cellular environments, improving research in tissue engineering, drug discovery, cancer studies, and neuroscience.
Tri Lan Thai   +7 more
wiley   +1 more source

Hippocampal and Congenital Brain Malformations

open access: yesPediatric Neurology Briefs, 2009
Sixty two patients, aged 15 days to 18 years, with congenital brain malformations were evaluated retrospectively to determine the association of various brain malformations with hippocampal abnormalities, in a study at Baskent University, Ankara, Turkey.
J Gordon Millichap
doaj   +1 more source

Congenital microcephaly [PDF]

open access: yes, 2014
The underlying etiologies of genetic congenital microcephaly are complex and multifactorial. Recently, with the exponential growth in the identification and characterization of novel genetic causes of congenital microcephaly, there has been a ...
Agha   +129 more
core   +1 more source

Parental counselling and autopsy results: A retrospective diagnostic cohort study at a multidisciplinary fetal neurology clinic

open access: yesDevelopmental Medicine &Child Neurology, Volume 68, Issue 3, Page 441-452, March 2026.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70022 This original article is commented on by Scelsa on pages 311–312 of this issue. Abstract Aim To examine the accuracy of prenatal counselling at a multidisciplinary fetal neurology clinic (FNC) that led to termination of pregnancy (TOP), to improve the quality of future ...
Avi Shariv   +12 more
wiley   +1 more source

The α-Tubulin gene TUBA1A in Brain Development: A Key Ingredient in the Neuronal Isotype Blend

open access: yesJournal of Developmental Biology, 2017
Microtubules are dynamic cytoskeletal polymers that mediate numerous, essential functions such as axon and dendrite growth and neuron migration throughout brain development.
Jayne Aiken   +3 more
doaj   +1 more source

Emergence of non-canonical parvalbumin-containing interneurons in hippocampus of a murine model of type I lissencephaly

open access: yeseLife, 2020
Type I lissencephaly is a neuronal migration disorder caused by haploinsuffiency of the PAFAH1B1 (mouse: Pafah1b1) gene and is characterized by brain malformation, developmental delays, and epilepsy.
Tyler G Ekins   +6 more
doaj   +1 more source

DMRTA2 Regulates Radial Glial Maintenance and Tumorigenicity of Paediatric High‐Grade Glioma

open access: yesJournal of Cellular and Molecular Medicine, Volume 30, Issue 6, March 2026.
ABSTRACT DMRTA2 is a member of the evolutionarily conserved transcription factor family involved in various developmental processes including neurogenesis. However, the roles of DMRTA2 in human development and disease are not fully characterised. Single cell RNA‐seq data analysis showed that DMRTA2 is robustly expressed in neural progenitors, in ...
Hitomi N. Royston   +9 more
wiley   +1 more source

Prenatal Diagnosis of Isolated Lissencephaly by Ultrasonography and Magnetic Resonance Imaging: A Case Report

open access: yesGynecology Obstetrics & Reproductive Medicine, 2014
We present the abnormal sonographic findings in the brain of a 26-week fetus, which increased the suspicion of isolated lissencephaly. The woman had a history of prednisolone use in early pregnancy, and conceived with copper containing intra uterine ...
Mehmet Serdar Kütük   +4 more
doaj  

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