Results 101 to 110 of about 988,363 (212)
Clinical Genetics, Volume 110, Issue 3, Page 336-346, September 2026.Opticus atrophy—Genetic testing with WES/WGS in 62 patients with optic atrophy provided a genetic diagnosis in 21 patients (33.9%). 42.9% of these involved non‐OPA1 genes, including WFS1, ACO2, NR2F1, UCHL1, CACNA1F, and COQ2, where the genetic diagnosis prompted additional clinical evaluation, surveillance, or therapeutic intervention.
Katrine M. Johannesen +9 more
wiley +1 more source
Partial corpus callosum agenesis and colpocephaly: a case report
, 2016 Callosal abnormalities are mostly described as central nervous system malformations and can be symptomatic or asymptomatic. Herein, we report an autopsy case of a 50-year-old Syrian immigrant male with poor academic performance, presented with partial ...
Aksoy, Aylin +3 more
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Facial emotion recognition in agenesis of the corpus callosum [PDF]
, 2014 Background: Impaired social functioning is a common symptom of individuals with developmental disruptions in callosal connectivity. Among these developmental conditions, agenesis of the corpus callosum provides the most extreme and clearly identifiable ...
Adolphs, Ralph +5 more
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Brain plasticity following corpus callosum agenesis or loss: a review of the Probst bundles. [PDF]
Front Neuroanat, 2023 Lynton Z, Suárez R, Fenlon LR.
europepmc +1 more source
Journal of Pediatric and Neonatal Individualized Medicine, 2016 Meier-Gorlin syndrome (MGS) or ear-patella-short stature syndrome (MIM 224690) is a rarely reported autosomal recessive disorder having characteristic triad of microtia, short stature and aplastic or hypoplastic patella. Only 67 cases are reported.
Nabanita Kora +3 more
doaj +1 more source
Agenesis of corpus callosum – signifi cance of prenatal diagnosis [PDF]
, 2009 The corpus callosum is an important brain commissure connecting the cerebral hemispheres and is essentials for efficient cognitive function. The corpus callosum is derived from lamina terminalis. Until the eighth weeks of gestation, only the most rostral
Liberski, Paweł P. +2 more
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Audiological evaluation in infants with agenesis of the corpus callosum
, 2014 Purpose to assess the occurrence of hearing loss in infants with corpus callosum agenesis comparing them to children without such malformation. Methods a cohort study in two parts: a retrospective from 2008 to 2011, and prospective from 2011 to 2012 ...
Rosanna Giaffredo Angrisani (12824640) +2 more
core +1 more source
Frontal subcutaneous lipoma associated with large interhemispheric lipoma and corpus callosum agenesis. [PDF]
Radiol Case Rep, 2022 Rana D, Kulkarni S, Zuberi J, Berlin F.
europepmc +1 more source
Long-term follow-up in a cohort of children with isolated corpus callosum agenesis at fetal MRI. [PDF]
Ann Clin Transl Neurol, 2021 Romaniello R +8 more
europepmc +1 more source
The effect of corpus callosum agenesis on the communication between cerebral hemispheres
, 2021 : Agenesis of the corpus callosum is the lack of the development of the corpus callosum. This condition can lead to impairments in language processing, epilepsy, and emotion and social functioning, but many individuals with this condition do not show any
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