Results 21 to 30 of about 13,805 (257)

Cytomegalovirus infection with lissencephaly

Indian Journal of Pathology and Microbiology, 2008
Lissencephaly is a malformation of the brain in which the brain surface is smooth, rather than convoluted. Among the various causes of lissencephaly, infection by a virus during pregnancy plays an important role.
Joseph Leena, Pushpalatha, Kuruvilla Sarah   +2 more
doaj   +4 more sources

Interplay of LIS1 and MeCP2: Interactions and Implications With the Neurodevelopmental Disorders Lissencephaly and Rett Syndrome

Frontiers in Cellular Neuroscience, 2019
LIS1 is the main causative gene for lissencephaly, while MeCP2 is the main causative gene for Rett syndrome, both of which are neurodevelopmental diseases.
Liraz Keidar, Gabi Gerlitz, Aditya Kshirsagar, Michael Tsoory, Tsviya Olender, Xing Wang, Ying Yang, Yu-Sheng Chen, Yun-Gui Yang, Irina Voineagu, Orly Reiner   +10 more
doaj   +2 more sources

GENOTYPE-PHENOTYPE CORRELATION IN CASES WITH LISSENCEPHALY SPECTRUM

Sabiad, 2022
Objective: In this study, we aimed to evaluate six cases diagnosed with lissencephaly in terms of the genotype-phenotype correlation. Materials and Methods: Six cases with lissencephaly, which were followed up in our outpatient clinic, were included in ...
Ayça Dilruba Aslanger, Zehra Oya Uyguner, Birsen Karaman, Seher Başaran, Hülya Kayserili Karabey   +4 more
doaj   +1 more source

Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly

European Journal of Human Genetics, 2023
Lissencephaly (LIS) is a malformation of cortical development due to deficient neuronal migration and abnormal formation of cerebral convolutions or gyri. Thirty-one LIS-associated genes have been previously described.
E. Uctepe, B. Vona, F. N. Esen, F. M. Sonmez, T. Smol, Sait Tümer, Hanifenur Mancılar, Dilan Ece Geylan Durgun, O. Boute, M. Moghbeli, Ehsan Ghayoor Karimiani, Narges Hashemi, Behnoosh Bakhshoodeh, Hyung-Goo Kim, R. Maroofian, Ahmet Yeşilyurt   +15 more
semanticscholar   +1 more source

Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield [PDF]

Journal of Human Genetics
Shogo Furukawa, Mitsuhiro Kato, Akihiko Ishiyama, Tomohiro Kumada, Takeshi Yoshida, Eri Takeshita, Pin Fee Chong, Hideo Yamanouchi, Yuko Kotake, Takayoshi Kyoda, Toshihiro Nomura, Yohane Miyata, Mitsuko Nakashima, Hirotomo Saitsu   +13 more
openalex   +2 more sources

Automatic Quantification of Normal Brain Gyrification Patterns and Changes in Fetuses with Polymicrogyria and Lissencephaly Based on MRI

American Journal of Neuroradiology, 2023
BACKGROUND AND PURPOSE: The current imaging assessment of fetal brain gyrification is performed qualitatively and subjectively using sonography and MR imaging.
Bossmat Yehuda, Aviad Rabinowich, Daphna Link-Sourani, Netanell Avisdris, Ori Ben-Zvi, Bella Specktor-Fadida, Leo Joskowicz, L. Ben‐Sira, Elka Miller, D. Ben Bashat   +9 more
semanticscholar   +1 more source

Lissencephaly [PDF]

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 1976
SUMMARY:The first reported case of lissencephaly resulting from a consanguinous union strengthens the supposition that in some cases, it is transmitted as an autosomal recessive trait. Comparison of this case with a sporadically occuring case of lissencephaly, with different cortical morphology, suggests that lissencephaly may be an example of either ...
M G, Norman, M, Roberts, J, Sirois, L J, Tremblay   +3 more
openaire   +2 more sources

Hind Brain Agenesis A Rare Imaging Findings In Cerebro Cerebellar Lissencephalic Syndrome [PDF]

Journal of Clinical and Diagnostic Research, 2014
A case report of cerebro cerebellar lissencephaly shows complete agenesis of cerebellum and brainstem which is rare imaging finding of group lissencephaly (type I lissencephaly).
Praveen M. Mundaganur, Pradeep Solwalkar, Vishal Nimbal   +2 more
doaj   +1 more source

Dysregulation of mTOR signalling is a converging mechanism in lissencephaly. [PDF]

Nature
Cerebral cortex development in humans is a highly complex and orchestrated process that is under tight genetic regulation. Rare mutations that alter gene expression or function can disrupt the structure of the cerebral cortex, resulting in a range of ...
Zhang C, Liang D, Ercan-Sencicek AG, Bulut AS, Cortes J, Cheng IQ, Henegariu O, Nishimura S, Wang X, Peksen AB, Takeo Y, Caglar C, Lam TT, Koroglu MN, Narayanan A, Lopez-Giraldez F, Miyagishima DF, Mishra-Gorur K, Barak T, Yasuno K, Erson-Omay EZ, Yalcinkaya C, Wang G, Mane S, Kaymakcalan H, Guzel A, Caglayan AO, Tuysuz B, Sestan N, Gunel M, Louvi A, Bilguvar K.   +31 more
europepmc   +2 more sources

Novel frameshift mutation in LIS1 gene is a probable cause of lissencephaly: a case report

BMC Pediatrics, 2022
Background Lissencephaly (LIS) is a cortical malformation, characterized by smooth or nearly smooth cerebral surface and a shortage of gyral and sulcal development, which is caused by deficient neuronal migration during embryogenesis.
C. Simões, M. Graña, S. Rodríguez, Federico Baltar Yanes, A. Tapié, N. Dell’Oca, Hugo Naya, Víctor E Raggio, L. Spangenberg   +8 more
semanticscholar   +1 more source