Results 51 to 60 of about 17,723 (256)

Variability of forebrain commissures in callosal agenesis: a prenatal magnetic resonance imaging study [PDF]

open access: yes, 2016
Introduzione e Scopo dello Studio L’agenesia completa del corpo calloso (ACC) anche quando isolata può essere espressione di eterogeneità anatomica. Lo scopo dello studio è descrivere la variabilità delle altre strutture commissurali in un’ ampia corte
Nanni, Michela <1976>
core   +1 more source

Agenesis of the corpus callosum

open access: yesThe British Journal of Radiology, 1993
Agenesis of the corpus callosum is an uncommon congenital anomaly which causes dilatation of the posterior horns of the lateral ventricles and a falsely high ventricular/hemispheric ratio on antenatal ultrasound scans with an incidence on studies of air encephalograms of 0.7% (Grogono, 1968).
M E, Warren, J V, Cook
openaire   +2 more sources

Integrative genomic and spatial transcriptomic analysis elucidates the oligodendrocyte‐mediated etiology of epileptic cortical thinning

open access: yesEpilepsia Open, EarlyView.
Abstract Objective Focal epilepsy is characterized by progressive cortical thinning, particularly within limbic structures; however, whether this atrophy reflects acquired seizure‐induced damage or shared genetic predisposition remains unresolved. Methods We integrated genome‐wide association study (GWAS) summary statistics from the ILAE Consortium ...
Dingyuan Zhang   +9 more
wiley   +1 more source

Characterization of an Inherited Neurologic Syndrome in Toyger Cats with Forebrain Commissural Malformations, Ventriculomegaly and Interhemispheric Cysts. [PDF]

open access: yes, 2016
BackgroundIn children, frequent congenital malformations with concomitant agenesis of the corpus callosum are diagnosed by neuroimaging in association with other cerebral malformations, including interhemispheric cysts and ventriculomegaly.
Creighton, EK   +5 more
core  

Implementation and Performance of First‐Trimester Referral Ultrasound Scan Following the Introduction of National Guidelines

open access: yesJournal of Clinical Ultrasound, EarlyView.
The expert assessment of fetal anatomy before 14 weeks is feasible when adopting a standardized protocol and allows an early diagnosis in most cases at risk for fetal anomaly following first trimester screening ultrasound. ABSTRACT Background To report the implementation across Fetal Medicine units and the agreement between first and second trimester ...
Grazia Volpe   +11 more
wiley   +1 more source

A chemical genetic approach reveals distinct EphB signaling mechanisms during brain development. [PDF]

open access: yes, 2012
EphB receptor tyrosine kinases control multiple steps in nervous system development. However, it remains unclear whether EphBs regulate these different developmental processes directly or indirectly.
Ataman, Bulent   +12 more
core   +1 more source

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel   +17 more
wiley   +1 more source

Prenatal Diagnosis of WAGR Syndrome. [PDF]

open access: yes, 2015
Wilm's tumour, aniridia, genitourinary abnormalities, and mental retardation (WAGR) syndrome is a rare genetic disorder with an estimated prevalence of 1 in 500,000 to 1 million.
Bhide, A, Rich, P, Tezcan, B
core   +3 more sources

Agenesis of corpus callosum

open access: yesIndian Journal of Continuing Nursing Education, 2019
Having a child born with a congenital defect is traumatic for the parents and family. Some congenital anomalies can be corrected resulting in good quality of life, and few others may grossly affect the life of children because of the long-term effects.
Amar Bhide   +5 more
  +4 more sources

Agenesis of the corpus callosum associated with hereditary syndromes

open access: yesАнналы клинической и экспериментальной неврологии, 2017
: Agenesis of the corpus callosum (ACC) is detected in patients with cerebral dysgenesis associated with various hereditary syndromes. It is conventionally subdivided into total (the absence of commissural fibers) and partial (agenesis of the rostral and
Olga A. Milovanova   +5 more
doaj   +1 more source

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