Results 111 to 120 of about 16,104 (221)

Awareness of consequences in agenesis of the corpus callosum: Semantic analysis of responses [PDF]

, 2019
Objective: Agenesis of the corpus callosum (AgCC) in individuals with general intelligence within the normal range results in a syndrome of mild to moderate deficiencies in cognitive, emotional, and social functioning that are still being explored ...
Brown, Warren S., Folsom, Renee C., Mangum, Ryan W., Paul, Lynn K., Su, Judy, Young, Christina M.   +5 more
core  

A selective defect in the glial wedge as part of the neuroepithelium disruption in hydrocephalus development in the mouse hyh model is associated with complete corpus callosum dysgenesis

Frontiers in Cellular Neuroscience
IntroductionDysgenesis of the corpus callosum is present in neurodevelopmental disorders and coexists with hydrocephalus in several human congenital syndromes.
Luis-Manuel Rodríguez-Pérez, Luis-Manuel Rodríguez-Pérez, Javier López-de-San-Sebastián, Isabel de Diego, Aníbal Smith, Ruth Roales-Buján, Antonio J. Jiménez, Antonio J. Jiménez, Patricia Paez-Gonzalez, Patricia Paez-Gonzalez   +9 more
doaj   +1 more source

A novel MBTPS2 missense variant identifying keratosis follicularis spinulosa decalvans in a case of neonatal erythroderma

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 3, Page 392-396, March 2026.
Edwin Cuperus, Michel van Geel, Virginie JM Verhoeven, Suzanne M Koudijs, Gerharda H Boerman, Angela M Tjiam, N Margreth van der Lugt, Suzanne GMA Pasmans   +7 more
wiley   +1 more source

Aicardi syndrome: Clinical spectrum of a rare disorder

Journal of Family Medicine and Primary Care
Aicardi syndrome is a rare genetic syndrome reported exclusively in females, with reported incidence of approximately 1 in 1.1 lakh live births. The clinical condition comprises of triad of infantile spasms, and mental retardation with neuroimaging ...
Sunisha Jakhar, Dinkar Yadav, Kapil Bhalla, Komal Jindal, Rohan Acharya   +4 more
doaj   +1 more source

Vici Syndrome: A Rare Autosomal Recessive Syndrome with Brain Anomalies, Cardiomyopathy, and Severe Intellectual Disability

Case Reports in Genetics, 2011
Purpose. The objective of this study was to present and describe two additional patients diagnosed with Vici syndrome. Methods. Clinical, laboratory, and imaging findings of the two siblings are discussed in detail.
R. Curtis Rogers, Bridgette Aufmuth, Stephanie Monesson   +2 more
doaj   +1 more source

Outcome of partial agenesis of corpus callosum

American Journal of Obstetrics and Gynecology
The diagnosis of corpus callosum anomalies by prenatal ultrasound has improved over the last decade because of improved imaging techniques, scanning skills, and the routine implementation of transvaginal neurosonography.Our aim was to investigate all cases of incomplete agenesis of the corpus callosum and to report the sonographic characteristics, the ...
De Keersmaecker, Bart, Jansen, Katrien, Aertsen, Michael, Naulaers, Gunner, De Catte, Luc   +4 more
openaire   +3 more sources

A case of corpus callosum agenesis presenting with recurrent brief depression

Indian Journal of Psychological Medicine, 2009
Agenesis of corpus callosum can have various neuropsychiatric manifestations. Following case report highlights the case of a young man presenting with features of recurrent brief depressive disorder, each lasting for about 3 to 7 days, for over a year ...
Bhattacharyya Ranjan, Sanyal Debasish, Chakraborty Suddhendu, Bhattacharyya Sumita   +3 more
doaj  

Gli3 Controls Corpus Callosum Formation by Positioning Midline Guideposts During Telencephalic Patterning [PDF]

, 2017
The corpus callosum (CC) represents the major forebrain commissure connecting the 2 cerebral hemispheres. Midline crossing of callosal axons is controlled by several glial and neuronal guideposts specifically located along the callosal path, but it ...
Basson, M. Albert, Benadiba, Carine, Hasenpusch-Theil, Kerstin, Lebrand, Cécile, Magnani, Dario, Price, David J., Theil, Thomas, Yu, Tian   +7 more
core  

Birth to preschool evolution of agenesis of corpus callosum. [PDF]

Indian J Med Res, 2020
Chatterjee R, Khan A.
europepmc   +1 more source

Agenesis of the corpus callosum

Journal of Pediatric Neurosciences, 2010
Singh, Sangram, Garge, Saurabh
openaire   +3 more sources