Results 101 to 110 of about 17,723 (256)

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  

Mowat-Wilson syndrome [PDF]

, 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, Paola Cerruti Mainardi, DR Mowat, N Wakamatsu, V Cacheux, P Cerruti-Mainardi, C Zweier, L Garavelli, J Amiel, K Yamada, DR Mowat, M Wilson, C Zweier, P Cerruti-Mainardi, H Kääriäinen, IW Lurie, M Nagaya, L Garavelli, J McGaughran, C Zweier, MP Adam, W Heinritz, C Zweier, F Dastot-Le Moal, L Sztriha, D Horn, N Ishihara, A Rauch, M Yoneda, CY Gregory-Evans, MJV Hoffer, M Silengo, M Silengo, N Ishihara, H Dolk, JE Remacle, K Verschueren, M Watanabe, Y Shi, Y Espinosa-Parrilla, G Bassez, Y Espinosa-Parrilla, J Amiel, T Van de Putte, RB Goldberg, AS Brooks, AS Brooks, MA Parisi, E Passarge, Y Espinosa-Parrilla   +49 more
core   +2 more sources

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

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

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

Epilepsy in Chinese Children With Mowat–Wilson Syndrome: Two Case Reports and Literature Review

Journal of Paediatrics and Child Health, EarlyView.
Xuelin Huang, Dongling Yang, Jinqiu Wang, Qingqing Zhao, Yuyi Chen, Fengping Wei, Yiyan Ruan   +6 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

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  

The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin-Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections. [PDF]

, 2018
Congenital diaphragmatic hernia (CDH) results from incomplete formation of the diaphragm leading to herniation of abdominal organs into the thoracic cavity. CDH is associated with pulmonary hypoplasia, congenital heart disease, and pulmonary hypertension.
Campo, Miguel Del, Chowdhury, Shimul, Dimmock, David P, Jones, Marilyn C, Kingsmore, Stephen F, Nahas, Shareef A, RCIGM Investigators, Sweeney, Nathaly M   +7 more
core   +2 more sources

Proud Syndrome: A Rare Cause of Corpus Callosum Agenesis. [PDF]

Cureus, 2023
Devi R, Chaurasia S, Priyadarshi M, Singh P, Basu S.   +4 more
europepmc   +1 more source