Results 71 to 80 of about 988,363 (212)

Morphometric variability of neuroimaging features in Children with Agenesis of the Corpus Callosum [PDF]

, 2015
Background: Agenesis of the corpus callosum (ACC) is a developmental brain malformation associated with a wide spectrum of structural brain abnormalities and genetic loci.
Neal, Jason Bennett, Jason Bennett Neal, Christopher G. Filippi, Richard Mayeux, Mayeux, Richard Paul, Filippi, Christopher G.   +5 more
core   +2 more sources

Pathogenicity of NUSAP1 Variants Is Defined by NMD‐Escape: Evidence From Two Novel Cases and Systematic Population‐Based Variant Analysis

Clinical Genetics, EarlyView.
Heterozygous de novo nonsense variants in the penultimate and last exons of NUSAP1 were identified in two unrelated individuals, predicted to escape NMD. In population data, nonsense variants were observed in exons 1–9 (of 11) in NUSAP1 but were absent from its 3′‐terminal region.
Maureen Jacob, Susann Badmann, Stefania Bigoni, Maria Iascone, Ilaria Vivaldi, Katharina Mayerhanser, Robert Kopajtich, Holger Prokisch, Cristina Forest, Sebastian Eck, Michael Zech, Elisabeth Graf, Matias Wagner, Juliane Winkelmann, Theresa Brunet, Melanie Brugger   +15 more
wiley   +1 more source

Perinatal complications, mode of delivery, and neurological morbidity in children with COL4A1/A2 variants

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To characterize reported perinatal complications and childhood neurological diagnoses among children with COL4A1/2 variants and explore associations between mode of delivery and selected neurological outcomes. Method This was a retrospective cross‐sectional patient registry study using surveys collected through the Gould Syndrome ...
Shraddha Pandey, Dawn Gano, Danielle Boyce, Rachel Vassar   +3 more
wiley   +1 more source

Neuroplasticity in an Adolescent with Corpus Callosum Agenesis Associated with Epilepsy

Revista Finlay, 2021
Neural plasticity represents the brain's ability to recover and restructure itself, allowing it to recover from disorders or injuries and reduce the effects of structural alterations, whether congenital or acquired. The agenesis of the corpus callosum is
Dámaris González Vidal, Osvaldo Ramón Aguilera Pacheco, Margarita Isabel Chávez Isla   +2 more
doaj  

Retinopathy of Prematurity Is Associated With Reduced Thalamic Volume and Impaired Neurodevelopment. A Cohort Study

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Background Retinopathy of prematurity (ROP) is a neurovascular disorder that may affect not only the retina but also the brain structures involved in visual processing. The relationship between ROP severity and the volumetric development of these regions remains unclear.
Jose Uberos, Marta Carrasco‐Solis, Carolina Laynez‐Rubio, Ana Nieto‐Ruiz, Aida Ruiz‐López, Francisco Contreras‐Chova, Elizabeth Fernández‐Marin, Ana Campos‐Martínez, Jose Luis García‐Serrano   +8 more
wiley   +1 more source

Sex differences and other correlations of Human Corpus Callosum: A review

National Journal of Clinical Anatomy, 2017
There is a wide spectrum in the field of sex differences and other correlation in human corpus callosum. More recent literatures have raised doubts as to whether the anatomic size of the corpus is actually different.
D K Sharma
doaj   +1 more source

Real‐Time Targeted Slice Reacquisition for Motion‐Corrupted Fetal Diffusion MRI

Magnetic Resonance in Medicine, Volume 96, Issue 5, Page 2140-2151, November 2026.
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, Sara Neves Silva, Susanne Schulz‐Heise, Sarah McElroy, Mary Rutherford, Joseph V. Hajnal, Raphael Tomi‐Tricot, Jana Hutter   +7 more
wiley   +1 more source

Corpus callosum agenesis: does sleep matter?

Agenesis of the corpus callosum is a brain malformation that can lead to intellectual, behavioural, social and emotional impairments, with outcomes varying based on severity.
Pasca, Ludovica, Borgatti, Renato, Vitali, Helene, Quaranta, Carlo Alberto, Uccella, Sara, Paul, Lynn K., Romaniello, Romina, Macina, Lia, Franco, Valentina, De Giorgis, Valentina   +9 more
core   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2350-2356, October 2026.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Charting the Normal Development of Structural Brain Connectivity in Utero Using Diffusion MRI

Human Brain Mapping, Volume 47, Issue 14, October 1, 2026.
This study proposes new methods to study the development of the structural connectivity in utero using diffusion‐weighted MRI. The methods are applied on data from around 200 fetal brains to chart how the structural connectome develops between 22 and 37 gestational weeks.
Davood Karimi, Bo Li, Athena Taymourtash, Camilo Jaimes, P. Ellen Grant, Simon K. Warfield   +5 more
wiley   +1 more source