callosal agenesis
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Corpus callosal agenesis, fetal MRI and molecular genetics

2022 ◽  
Vol 59 (1) ◽  
pp. 132-132
Author(s):  
L. Carbillon ◽  
B. Amarenco
Keyword(s):  
Molecular Genetics ◽  
Fetal Mri ◽  
Callosal Agenesis

scholarly journals Large-scale functional network dynamics in human callosal agenesis: increased subcortical involvement and preserved laterality

NeuroImage ◽  
2021 ◽  
pp. 118471
Author(s):  
Vanessa Siffredi ◽  
Younes Farouj ◽  
Anjali Tarun ◽  
Vicki Anderson ◽  
Amanda G. Wood ◽  
...  
Keyword(s):  
Large Scale ◽  
Network Dynamics ◽  
Functional Network ◽  
Callosal Agenesis

scholarly journals Beyond Isolated and Associated: A Novel Fetal MR Imaging–Based Scoring System Helps in the Prenatal Prognostication of Callosal Agenesis

2021 ◽  
Vol 42 (4) ◽  
pp. 782-786
Author(s):  
S. Glatter ◽  
G. Kasprian ◽  
D. Bettelheim ◽  
B. Ulm ◽  
M. Weber ◽  
...  
Keyword(s):  
Mr Imaging ◽  
Scoring System ◽  
Callosal Agenesis ◽  
Fetal Mr

scholarly journals Hepatic Adenomatosis in Aicardi Syndrome: A Clinical Report and Review of The Literature

2021 ◽  
Author(s):  
Enrico Boninsegna ◽  
Emilio Simonini ◽  
Stefano Crosara ◽  
Antonia Semeraro ◽  
Stefano Colopi
Keyword(s):  
Genetic Disorder ◽  
Clinical Report ◽  
Review Of The Literature ◽  
Callosal Agenesis ◽  
Liver Histopathology ◽  
Generalized Seizures ◽  
Vertebral Anomalies ◽  
Aicardi Syndrome ◽  
Mass Lesions ◽  
Hepatic Adenomatosis

Abstract Aicardi Syndrome is a rare X-linked dominant genetic disorder characterized by callosal agenesis, generalized seizures, chorioretinal lacunae and vertebral anomalies. Uncommon neoplasms have been previously observed in affected patients. We describe the case of a 19-year-old woman with Aicardi Syndrome developing multiple giant mass lesions in the liver. Histopathology revealed hepatic adenomas.

scholarly journals PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration

2020 ◽  
Vol 136 ◽  
pp. 104709 ◽  
Author(s):  
Kévin Duarte ◽  
Solveig Heide ◽  
Sandrine Poëa-Guyon ◽  
Véronique Rousseau ◽  
Christel Depienne ◽  
...  
Keyword(s):  
Cell Migration ◽  
Intellectual Disability ◽  
Callosal Agenesis ◽  
Severe Intellectual Disability

scholarly journals Callosal agenesis and congenital mirror movements: outcomes associated with DCC mutations

2020 ◽  
Vol 62 (6) ◽  
pp. 758-762 ◽  
Author(s):  
Megan Spencer‐Smith ◽  
Jacquelyn L Knight ◽  
Emmanuelle Lacaze ◽  
Christel Depienne ◽  
Paul J Lockhart ◽  
...  
Keyword(s):  
Callosal Agenesis ◽  
Mirror Movements
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