Results 51 to 60 of about 17,723 (256)
Variability of forebrain commissures in callosal agenesis: a prenatal magnetic resonance imaging study [PDF]
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
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
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]
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
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]
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
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]
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
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
: 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

