Results 61 to 70 of about 7,495 (203)

Quantitative MRI Assessment of Gyrification and Brain Volume in Congenital Cytomegalovirus Fetuses and Postnatal Outcome

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Quantitative assessment of the impact of cytomegalovirus (CMV) infection on fetal brain development beyond conventional imaging remains limited. We aimed to quantify cortical gyrification and brain volumes in CMV‐exposed fetuses, compare groups with varying severities of conventional MRI findings, and evaluate postnatal outcomes ...
Or R. Sadan, Bossmat Yehuda, Maya Yanko, Aaron Olender, Yair Wexler, Galia Grisaru‐Soen, Yael Leitner, Aviad Rabinowich, Bella Specktor‐Fadida, Dana Schonberger, Shira Ben Haim, Tal Zimels, Leo Joskowicz, Liat Ben Sira, Dafna Ben Bashat   +14 more
wiley   +1 more source

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

Journal 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, Georgia Buscaglia, Emily A. Bates, Jeffrey K. Moore   +3 more
doaj   +1 more source

Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao, Yan Wang, Gang Li, Zhitao Zhang, Yuan Lv, Lizhu Chen   +5 more
wiley   +1 more source

The assessment of fetal behavior of a fetus with lissencephaly by 4D ultrasound [PDF]

, 2013
Lissencephaly is malformation of gyral and sulcal structures of the cerebrum as a result of abnormal neuronal migration. The most common clinical manifestations of lissencephaly are severe psychomotor retardation, developmental defects, seizures, failure
Gönenç G., Güdücü N., Yi?iter A.B., Işçi H.   +3 more
core   +1 more source

Rare Biallelic CTU2 Variants in an Individual With CAKUT: Clinical Characterization and Minigene Splicing Analysis

Molecular Genetics &Genomic Medicine, Volume 14, Issue 8, August 2026.
Exome sequencing in 200 CAKUT patients identified compound heterozygous rare CTU2 variants in one renal‐predominant case. Minigene splicing assays showed c.913C>T partially increased exon 9 skipping, supporting further case collection and kidney‐relevant studies to clarify the role of CTU2 in renal developmental phenotypes.
Qian Liu, Xueqin Cheng, Bixia Zheng, Chunli Wang, Wei Zhou, Aihua Zhang   +5 more
wiley   +1 more source

Miller–Dieker Syndrome Associated with Congenital Lobar Emphysema

American Journal of Perinatology Reports, 2014
Miller–Dieker syndrome (MDS) is a rare genetic syndrome associated with lissencephaly, developmental delay, and high mortality. We describe a patient who was diagnosed postnatally with both MDS and congenital lobar emphysema.
Linda Mahgoub, Khalid Aziz, Dawn Davies, Norma Leonard   +3 more
doaj   +1 more source

Functional Mapping of Neurodevelopmental Disease Pathways to Key Neurodevelopmental Processes Represented in the Developmental Neurotoxicity In Vitro Testing Battery

Advanced Science, Volume 13, Issue 37, 3 July 2026.
Human‐relevant methods are essential for modern chemical safety assessment. This study helps define the capabilities and boundaries of an in vitro testing battery for developmental neurotoxicity by exploring its biological applicability domain. By linking neurodevelopmental disease‐related pathways to key neurodevelopmental processes, the work enhances
Eliska Kuchovska, Kristina Bartmann, Georgea Raad, Mats Schade, Luiz Ladeira, Arif Dönmez, Jördis Klose, Nicolai Görts, Denis Polozij, Lynn‐Christin Saborowski, Farina Bendt, Bernard Staumont, Liesbet Geris, Katharina Koch, Ellen Fritsche   +14 more
wiley   +1 more source

Mental health impacts experienced by caregivers of people with Dravet syndrome: A systematic literature review

Epilepsia, Volume 67, Issue 6, Page 3082-3107, June 2026.
Graphical abstract for the systematic literature review. Abstract Objective Dravet syndrome (DS) places tremendous burden on caregivers owing to the extent of required assistance and impact on daily living, as well as the risk to the individual with DS of premature mortality from sudden unexpected death in epilepsy and morbidity associated with ...
Adam Strzelczyk, Mary Anne Meskis, Galia Wilson, Bobby Jacob, Christoph Helmstaedter, Jane von Gaudecker, Veronica Hood, Ceri Hughes, Michael Scott Perry   +8 more
wiley   +1 more source

Altered thalamocortical tract trajectory growth with undisrupted thalamic parcellation pattern in human lissencephaly brain at mid-gestational stage

Neurobiology of Disease
Proper topographically organized neural connections between the thalamus and the cerebral cortex are mandatory for thalamus function. Thalamocortical (TC) fiber growth begins during the embryonic period and completes by the third trimester of gestation ...
Sheng-Min Huang, Kuan-Hung Cho, Koping Chang, Pei-Hsin Huang, Li-Wei Kuo   +4 more
doaj   +1 more source

Newborn with ambigous genitalia and refractory convulsions: Case report of XLAG syndrome

Journal of Family Medicine and Primary Care, 2020
X-linked lissencephaly, absent corpus callosum, and epilepsy of neonatal onset with ambiguous genitalia are the classical features of XLAG syndrome and as of now very few cases have been reported in the literature.
Anjali Verma, Rashika Jain, Neha Babbar, Sudeep Kumar   +3 more
doaj   +1 more source