Results 101 to 110 of about 15,902 (210)

Agenesis of the Corpus Callosum [PDF]

Postgraduate Medical Journal, 1965
J N, HARCOURT-WEBSTER, J H, RACK
openaire   +2 more sources

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

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

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

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  

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

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, Anna Fresca, Ilaria Maria Carlotta Baschenis   +2 more
doaj   +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, Volume 24, Issue 3, Page 392-396, March 2026.
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

Callosal Agenesis and Interhemispheric Cysts

Pediatric Neurology Briefs, 2001
Imaging studies of 25 cases of agenesis of the corpus callosum with interhemispheric cyst were retrospectively reviewed at the University of California, San Francisco, and Harvard Medical School, Boston.
J Gordon Millichap
doaj   +1 more source

Meier-Gorlin syndrome with ventriculomegaly and hypoplastic corpus callosum: a rarely reported congenital malformation

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, Kaustav Nayek, Baisakhi Soren, Rajib Das   +3 more
doaj   +1 more source