Results 101 to 110 of about 17,648 (257)

Oral characteristics of Trisomy 8 and monosomy 18: a case report [PDF]

, 2011
Several reports described various mosaic chromosomal syndromes characterized by alterations originated by either an excess or deficit in the number of chromosomes.
Campus, Guglielmo Giuseppe, Lugliè, Pietrina Francesca, Sale, Silvana, Spano, Giovanni   +3 more
core   +1 more source

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  

Brain resting-state functional MRI connectivity: Morphological foundation and plasticity [PDF]

, 2014
postprin
Chan, RW, Cheng, JS, Gao, PP, Hu, Y, Liang, YX, So, KF, Wu, EX, Zhou, IY   +7 more
core   +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, EarlyView.
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

Prenatal and postnatal evaluation of polymicrogyria with band heterotopia

Radiology Case Reports, 2017
The coexistence of band heterotopia and polymicrogyria is extremely rare though it has been reported in the presence of corpus callosum anomalies and megalencephaly.
Usha D. Nagaraj, MD, Robert Hopkin, MD, Mark Schapiro, MD, Beth Kline-Fath, MD   +3 more
doaj   +1 more source

Complete Agenesis of Corpus Callosum in KCNQ2 -Related Neonatal Epileptic Encephalopathy [PDF]

, 2022
Laura Licchetta, Raffaella Minardi, Lorenzo Muccioli, Laura Ludovica Gramegna, David Neil Manners, Caterina Tonon, Francesca Bisulli, Paolo Tinuper   +7 more
openalex   +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, Schinzel, Albert, Tyshchenko, Nataliya   +2 more
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., Burrage, Lindsay C., Craigen, William J., Emrick, Lisa, Freeze, Hudson H., Graham, Brett H., Jain, Mahim, Lee, Brendan, Ng, Bobby G., Rosenfeld, Jill A.   +9 more
core   +1 more source

3 The Aesthetics of Empathy in Agenesis of the Corpus Callosum [PDF]

, 2023
Kutter Callaway, Kaitlyn A Nogales, Lynn K. Paul, Warren S. Brown   +3 more
openalex   +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