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Relevant bibliographies by topics / Lissencephaly

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Academic literature on the topic 'Lissencephaly'

Author: Grafiati

Published: 4 June 2021

Last updated: 26 July 2025

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Journal articles on the topic "Lissencephaly"

1

Mota, Bruno, and Suzana Herculano-Houzel. "Cortical folding scales universally with surface area and thickness, not number of neurons." Science 349, no. 6243 (2015): 74–77. http://dx.doi.org/10.1126/science.aaa9101.

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Larger brains tend to have more folded cortices, but what makes the cortex fold has remained unknown. We show that the degree of cortical folding scales uniformly across lissencephalic and gyrencephalic species, across individuals, and within individual cortices as a function of the product of cortical surface area and the square root of cortical thickness. This relation is derived from the minimization of the effective free energy associated with cortical shape according to a simple physical model, based on known mechanisms of axonal elongation. This model also explains the scaling of the fol

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2

Mielke, R., J. H. Lu, S. Kowalewski, M. Warburg, and J. U. Prause. "Lissencephaly." European Journal of Pediatrics 147, no. 4 (1988): 447–48. http://dx.doi.org/10.1007/bf00496439.

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Dobyns, William B. "Lissencephaly." JAMA 270, no. 23 (1993): 2838. http://dx.doi.org/10.1001/jama.1993.03510230076039.

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4

Sahani, Shambhu Kumar, Anil Pathak, Bishal Nepali, and Nilshan Rai. "Lissencephaly with Congenital Hypothyroidism: A Case Report." Journal of Nepal Medical Association 60, no. 255 (2022): 978–81. http://dx.doi.org/10.31729/jnma.7893.

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Lissencephaly is a malformation of cortical development associated with deficient neuronal migration and abnormal formation of cerebral convolutions or gyri. The lissencephaly spectrum consists of agyria, pachygyria, and subcortical band heterotopia. At least 19 genes have been identified in the causation of lissencephaly and related syndrome. Lissencephaly is associated with many other congenital disorders but the association of lissencephaly with congenital hypothyroidism is rarely reported. We report a case of a 10-year-old girl having lissencephaly with congenital hypothyroidism. Early dia

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Pandey, Shikha, Mohan Bhusal, and PVS Rana. "A Case of Agyria-Pachygyria Presenting as Seizure Disorder in A Young Girl." Nepal Medical Journal 3, no. 2 (2020): 60–63. http://dx.doi.org/10.37080/nmj.133.

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“Lissencephaly”, a rare gene linked defective neuroblast migration disorder resulting in defective cortical lamination, abnormal gyral development and subcortical heterotropia. Advances in molecular genetics have led to the identification of lissencephaly gene on chromosome 17p13.3 and causing Type-1 Lissencephaly or miller Diecker syndrome where lissencephaly is severe in posterior brain region. Another X-linked gene Doublecortin (DCX) gene where the lissencephaly is more severe in anterior region of the brain. Usually this defect manifests in early infancy or childhood as seizure disorder. A

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Rollins, Nancy K., Timothy N. Booth, and Maria H. Chahrour. "Variability of Ponto-cerebellar Fibers by Diffusion Tensor Imaging in Diverse Brain Malformations." Journal of Child Neurology 32, no. 3 (2016): 271–85. http://dx.doi.org/10.1177/0883073816680734.

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To describe pontine axonal anomalies across diverse brain malformations. Institutional review board–approved review of magnetic resonance imaging (MRI) and genetic testing of 31 children with brain malformations and abnormal pons by diffusion tensor imaging. Anomalous dorsal pontocerebellar tracts were seen in mid-hindbrain anomalies and in diffuse malformations of cortical development including lissencephaly, gyral disorganization with dysplastic basal ganglia, presumed congenital fibrosis of extraocular muscles type 3, and in callosal agenesis without malformations of cortical development. H

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Yi҇iter, Alin Ba͑gül, Gökçenur Gönenç, Herman İŞḈi, and Nilgün Güdücü. "The Assessment of Fetal Behavior of a Fetus with Lissencephaly by 4D Ultrasound." Donald School Journal of Ultrasound in Obstetrics and Gynecology 7, no. 2 (2013): 208–12. http://dx.doi.org/10.5005/jp-journals-10009-1285.

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ABSTRACT Lissencephaly is malformation of gyral and sulcal structures of the cerebrum as a result of abnormal neuronal migration. The most common clinical manifestations of lissencephaly are severe psychomotor retardation, developmental defects, seizures, failure to thrive, and infant or early childhood deaths. Because direct assessment of functional development of the central nervous system in fetus and infant is not feasible, patients with lissencephaly who survive infancy are usually not diagnosed until childhood. Recently, the analysis of fetal behavior has been proposed as a measure of ne

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8

Millichap, J. Gordon. "Lissencephaly Syndromes." Pediatric Neurology Briefs 4, no. 9 (1990): 66. http://dx.doi.org/10.15844/pedneurbriefs-4-9-3.

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9

Sabry, Mohamed A., Samir A. Farah, and Talaat I. Farag. "LISSENCEPHALY REVISITED." Journal of the American Academy of Child & Adolescent Psychiatry 37, no. 9 (1998): 899. http://dx.doi.org/10.1097/00004583-199809000-00001.

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Zakić, Hristina, Olivera Kontić Vučinić, Jelena Stamenković, Jovan Jevtić, Milena Perišić Mitrović, and Maja Životić. "Coexisting Congenital Mesoblastic Nephroma and Lissencephaly: Unique Case Report with Pathological Analysis and Its Clinical Significance." Biomedicines 13, no. 1 (2025): 196. https://doi.org/10.3390/biomedicines13010196.

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Background: Congenital mesoblastic nephroma represents 3–10% of all pediatric renal tumors. With the advancement of ultrasound diagnostics and magnetic resonance imaging, the diagnosis of this renal neoplasm is increasingly being established prenatally and at birth. It usually presents as a benign tumor, but it can severely affect pregnancy outcomes, contributing to perinatal morbidity and mortality. Lissencephaly belongs to a rare category of neurodevelopmental disorders marked by the absence of a substantial reduction in the typical folds and grooves in the cerebral cortex. The prognosis for

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Dissertations / Theses on the topic "Lissencephaly"

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Greenwood, Joel Simeon Fogde. "Excitatory circuits in a mouse model of type I lissencephaly." Diss., Search in ProQuest Dissertations & Theses. UC Only, 2008. http://gateway.proquest.com/openurl?url_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:dissertation&res_dat=xri:pqdiss&rft_dat=xri:pqdiss:3324597.

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Tai, Chin-Yin. "Roles of Lissencephaly Gene, LIS1, in Regulating Cytoplasmic Dynein Functions: a Dissertation." eScholarship@UMMS, 2002. https://escholarship.umassmed.edu/gsbs_diss/31.

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Spontaneous mutations in the human LIS1 gene are responsible for Type I lissencephaly ("smooth brain"). The distribution of neurons within the cerebral cortex of lissencephalic children appears randomized, probably owing to a defect in neuronal migration during early development. LIS1 has been implicated in the dynein pathway by genetic analyses in fungi. We previously reported that the vertebrate LIS1 co-localized with dynein at prometaphase kinetochores, and interference with LIS1 function at kinetochore caused misalignment of chromosomes onto the metaphase plate. This leads to a hypothesis

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Krefft, Olivia [Verfasser], and Philipp [Akademischer Betreuer] Koch. "Unraveling the pathology of different disease severities in human cerebral organoid models of LIS1-lissencephaly / Olivia Krefft ; Betreuer: Philipp Koch." Heidelberg : Universitätsbibliothek Heidelberg, 2020. http://d-nb.info/1223028062/34.

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Huttner, Wieland B., Iva Kelava, and Eric Lewitus. "The secondary loss of gyrencephaly as an example of evolutionary phenotypical reversal." Saechsische Landesbibliothek- Staats- und Universitaetsbibliothek Dresden, 2015. http://nbn-resolving.de/urn:nbn:de:bsz:14-qucosa-178648.

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Gyrencephaly (the folding of the surface of the neocortex) is a mammalian-specific trait present in almost all mammalian orders. Despite the widespread appearance of the trait, little is known about the mechanism of its genesis or its adaptive significance. Still, most of the hypotheses proposed concentrated on the pattern of connectivity of mature neurons as main components of gyri formation. Recent work on embryonic neurogenesis in several species of mammals revealed different progenitor and stem cells and their neurogenic potential as having important roles in the process of gyrification. S

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Huttner, Wieland B., Iva Kelava, and Eric Lewitus. "The secondary loss of gyrencephaly as an example of evolutionary phenotypical reversal." Frontiers Media, 2013. https://tud.qucosa.de/id/qucosa%3A28909.

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Gyrencephaly (the folding of the surface of the neocortex) is a mammalian-specific trait present in almost all mammalian orders. Despite the widespread appearance of the trait, little is known about the mechanism of its genesis or its adaptive significance. Still, most of the hypotheses proposed concentrated on the pattern of connectivity of mature neurons as main components of gyri formation. Recent work on embryonic neurogenesis in several species of mammals revealed different progenitor and stem cells and their neurogenic potential as having important roles in the process of gyrification. S

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PORTAY, DUPORT JOELLE. "Les syndromes lissencephaliques." Lyon 1, 1989. http://www.theses.fr/1989LYO1M038.

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LOYON, JEAN-FRANCOIS. "La lissencephalie isolee classique : approche histopathogenique et vision actuelle d'une dysplasie corticale diffuse rare a partir de deux cas." Dijon, 1994. http://www.theses.fr/1994DIJOM009.

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Brulé, Marie-Josée. "Le syndrome de walker et warburg : a propos de deux observations et revue de la litterature." Lille 2, 1994. http://www.theses.fr/1994LIL2M333.

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Penisson, Maxime. "Mécanismes de LIS1 dans les progéniteurs neuraux contribuant aux malformations de développement du cortex." Electronic Thesis or Diss., Sorbonne université, 2020. http://www.theses.fr/2020SORUS415.

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Les malformations du développement du cortex sont associées à des troubles de la prolifération des progéniteurs et de la migration neuronale. Les glies radiaires basales (bRGs), un type de progéniteur, sont limités dans les espèces lissencéphaliques mais abondants dans les cerveaux gyrencéphaliques. Le gène LIS1, codant pour un régulateur de la dynéine, est muté dans la lissencéphalie humaine. LIS1 a un rôle dans la division cellulaire et la migration neuronale. Dans cette étude, nous avons généré des cellules bRG-like dans le cerveau embryonnaire murin, pour étudier le rôle de Lis1 dans leur

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SIGAUDY, SABINE. "Etude clinique, cytogenetique et moleculaire du syndrome de miller-dieker et des lissencephalies de type 1 isolees." Aix-Marseille 2, 1994. http://www.theses.fr/1994AIX20801.

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Books on the topic "Lissencephaly"

1

Belarde, James Anthony. Development of a mouse model of a novel thin lissencephaly variant. [publisher not identified], 2021.

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Plaats, Robert Vander. Light from Lucas: Lessons in faith from a fragile life. Tyndale House Publishers, 2007.

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Publications, ICON Health. The Official Parent's Sourcebook on Lissencephaly: A Revised and Updated Directory for the Internet Age. Icon Health Publications, 2002.

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Book chapters on the topic "Lissencephaly"

1

Mehmood, Qasim, Hafiz Muhammad Iqbal, Saira Naz, and Danish Ali. "Lissencephaly." In Congenital Brain Malformations. Springer Nature Switzerland, 2024. http://dx.doi.org/10.1007/978-3-031-58630-9_15.

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Stern, John M., and Noriko Salamon. "Lissencephaly." In Imaging of Epilepsy. Springer International Publishing, 2022. http://dx.doi.org/10.1007/978-3-030-86672-3_24.

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Golden, Jeffrey A. "Lissencephaly, Type II (Cobblestone Lissencephaly)." In Developmental Neuropathology. John Wiley & Sons, Ltd, 2018. http://dx.doi.org/10.1002/9781119013112.ch7.

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Parrini, Elena, and Renzo Guerrini. "Reelin and Lissencephaly." In Reelin Glycoprotein. Springer New York, 2008. http://dx.doi.org/10.1007/978-0-387-76761-1_21.

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Golden, Jeffrey A. "Lissencephaly, Type I." In Developmental Neuropathology. John Wiley & Sons, Ltd, 2018. http://dx.doi.org/10.1002/9781119013112.ch6.

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Oette, Mark, Marvin J. Stone, Hendrik P. N. Scholl, et al. "Miller-Dieker Lissencephaly Syndrome." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_6248.

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7

Paladini, Dario, and Paolo Volpe. "Abnormal Cell Migration: Heterotopia, Lissencephaly." In Ultrasound of Congenital Fetal Anomalies, 3rd ed. CRC Press, 2024. http://dx.doi.org/10.1201/9781003048268-14.

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Leung, Alexander K. C., William Lane M. Robson, Carsten Büning, et al. "Lissencephaly with and without Craniofacial and Extracranial Abnormalities." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_3147.

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Pavone, L., F. Gullotta, S. Grasso, and C. Vannucchi. "Hydrocephalus, Lissencephaly, Ocular Abnormalities and Congenital Muscular Dystrophy: A Warburg syndrome variant?" In Annual Review of Hydrocephalus. Springer Berlin Heidelberg, 1989. http://dx.doi.org/10.1007/978-3-662-11149-9_94.

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10

"Lissencephaly." In Diagnostic Imaging: Obstetrics. Elsevier, 2016. http://dx.doi.org/10.1016/b978-0-323-39256-3.50039-x.

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Conference papers on the topic "Lissencephaly"

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Wallmeier, Julia, Diana Bracht, Hessa S. Alsaif, et al. "Mutations in TP73 Cause Cortical Malformation Consistent with Lissencephaly." In Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics. Georg Thieme Verlag KG, 2021. http://dx.doi.org/10.1055/s-0041-1739671.

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Dehmel, Maria, Gabriele Hahn, Sebastian Brenner, Sonja Walsh, Nataliya Didonato, and Maja von der Hagen. "P 916. Lissencephaly and Prolonged Survival of a Male Infant with MICPCH and a Noval Mutation in the CASK Gene, Xp11.4." In Abstracts of the 44th Annual Meeting of the Society for Neuropediatrics. Georg Thieme Verlag KG, 2018. http://dx.doi.org/10.1055/s-0038-1676003.

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