Results 111 to 120 of about 988,363 (212)

Clinical Characterization, Genetics, and Long-Term Follow-up of a Large Cohort of Patients with Agenesis of the Corpus Callosum

, 2017
To gain a better understanding of the clinical and genetic features associated with agenesis of corpus callosum, we enrolled and characterized 162 patients with complete or partial agenesis of corpus callosum. Clinical and genetic protocols allowed us to
S. Marelli, F. Triulzi, M. F. Bedeschi, Bassi M. T., R. Giorda, R. Borgatti, Bonaglia M. C., Triulzi F., R. Romaniello, Borgatti R., Borgatti, Renato, Marelli S., M. T. Bassi, Bedeschi M. F., Arrigoni F., Giorda R., M. C. Bonaglia, Romaniello R., F. Arrigoni   +18 more
core   +1 more source

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

Effect of corpus callosum agenesis on the language network in children and adolescents. [PDF]

Brain Struct Funct, 2021
Bartha-Doering L, Schwartz E, Kollndorfer K, Fischmeister FPS, Novak A, Langs G, Werneck H, Prayer D, Seidl R, Kasprian G.   +9 more
europepmc   +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

Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities. [PDF]

Am J Hum Genet, 2021
Jeanne M, Demory H, Moutal A, Vuillaume ML, Blesson S, Thépault RA, Marouillat S, Halewa J, Maas SM, Motazacker MM, Mancini GMS, van Slegtenhorst MA, Andreou A, Cox H, Vogt J, Laufman J, Kostandyan N, Babikyan D, Hancarova M, Bendova S, Sedlacek Z, Aldinger KA, Sherr EH, Argilli E, England EM, Audebert-Bellanger S, Bonneau D, Colin E, Denommé-Pichon AS, Gilbert-Dussardier B, Isidor B, Küry S, Odent S, Redon R, Khanna R, Dobyns WB, Bézieau S, Honnorat J, Lohkamp B, Toutain A, Laumonnier F.   +40 more
europepmc   +1 more source

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  

A Case Report of a Prenatally Missed Mowat-Wilson Syndrome With Isolated Corpus Callosum Agenesis. [PDF]

Child Neurol Open, 2021
Şenbil N, Arslan Z, Sayın Kocakap DB, Bilgili Y.   +3 more
europepmc   +1 more source

Corpus callosum agenesis in trisomy 8p11.23 and monosomy 4q34 because of maternal translocation

, 2008
We report on a 3-year-old boy with partial trisomy 8 p11.23 -> pter and partial monosomy 4q34 -> qter, associated with developmental delay, complete agenesis of the corpus callosum, and mild dysmorphic features.
Dehgan, Tahir, Işık, U, BAŞARAN, Seher, Apak, Memnune   +3 more
core   +1 more source

Agenesis of the corpus callosum in fetuses with mild ventriculomegaly: role of MR imaging

, 2010
PURPOSE: We evaluated the role of magnetic resonance (MR) imaging in the diagnosis of corpus callosum agenesis - isolated or associated with other anomalies - in fetuses with mild cerebral ventriculomegaly, as depicted at prenatal sonography.
Tognolini A, RAFFAELLI, Ricciarda, BRUNO, Costanza, MANFREDI, Riccardo, FRANCHI, Massimo Piergiuseppe, POZZI MUCELLI, Roberto   +5 more
core   +1 more source

Partial agenesis of the corpus callosum with partial seizures and bilateral congenital lacrimal duct atresia

, 2001
Patients with partial agenesis of the corpus callosum can be readily detected by magnetic resonance ...
Yemisci, MÜGE, Saygi, SERAP
core   +1 more source