Results 91 to 100 of about 16,104 (221)
Cognitive and psychosocial deficits in agenesis of the corpus callosum with normal intelligence [PDF]
, 2000 Cognitive disabilities in agenesis of the corpus callosum (ACC) have been described in scattered reports, but few complete case descriptions are available. Consequent psychosocial disabilities in ACC have received little attention.
Brown, Warren S., Paul, Lynn K.
core
Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation [PDF]
, 2018 FUK encodes fucokinase, the only enzyme capable of converting L-fucose to fucose-1-phosphate, which will ultimately be used for synthesizing GDP-fucose, the donor substrate for all fucosyltransferases.
Bearden, David R. +9 more
core +1 more source
Corpus callosum agenesis: Role of fetal magnetic resonance imaging
Asian Pacific Journal of Reproduction, 2016 Corpus callosum agenesis (CCA) was evaluated by ultrasound examination and magnetic resonance imaging (MRI) with many studies. Ultrasonography was able to suspect CCA by indirect signs but a definitive diagnosis of CCA was achieved in rare cases. MRI was
Achour Radhouane, Neji Khaled
doaj +1 more source
, 2007 Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes ...
Livia Garavelli +49 more
core +2 more sources
Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum
Pediatric Neurology Briefs, 2003 The epidemiological, clinical, and molecular genetic aspects of hereditary motor and sensory neuropathy and agenesis of the corpus callosum (HMSN/ACC) are reviewed by neurologists at McGill University, Montreal, Canada.
J Gordon Millichap
doaj +1 more source
Agenesis of the corpus callosum.
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 2000 Agenesis of the corpus callosum is not particularly common; its incidence in institutions where a great number of air encephalographic studies are done is said to be 3 %. It is probable that a number of the cases are not reported.
openaire +2 more sources
Brain resting-state functional MRI connectivity: Morphological foundation and plasticity [PDF]
, 2014 postprin
Chan, RW +7 more
core +1 more source
Complete Corpus Callosum Agenesis: Can It Be Mild?
Case Reports in Pediatrics, 2012 Corpus callosum agenesis is a relatively common brain malformation. It can be isolated or included in a complex alteration of brain (or sometimes even whole body) morphology.
Matteo Chiappedi +2 more
doaj +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
Chromosomal map of human brain malformations [PDF]
, 2018 The etiology of most central nervous system (CNS) malformations remains unknown. We have utilized the fact that autosomal chromosome aberrations are commonly associated with CNS malformations to identify new causative gene loci.
Lurie, Iosif +2 more
core