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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1985 2
1987 1
1988 2
1989 1
1990 2
1992 2
1993 5
1994 4
1995 3
1996 4
1997 2
1998 11
1999 10
2000 13
2001 18
2002 13
2003 12
2004 6
2005 11
2006 16
2007 10
2008 15
2009 11
2010 17
2011 14
2012 8
2013 13
2014 9
2015 12
2016 12
2017 9
2018 14
2019 7
2020 9
2021 8
2022 12
2023 7
2024 2

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302 results

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Page 1
Lissencephaly: Update on diagnostics and clinical management.
Koenig M, Dobyns WB, Di Donato N. Koenig M, et al. Eur J Paediatr Neurol. 2021 Nov;35:147-152. doi: 10.1016/j.ejpn.2021.09.013. Epub 2021 Oct 7. Eur J Paediatr Neurol. 2021. PMID: 34731701 Review.
Lissencephaly represents a spectrum of rare malformations of cortical development including agyria, pachygyria and subcortical band heterotopia. The progress in molecular genetics has led to identification of 31 lissencephaly-associated genes with the overall diagno
Lissencephaly represents a spectrum of rare malformations of cortical development including agyria, pachygyria and subcortical band h
Tubulin mutations in human neurodevelopmental disorders.
Maillard C, Roux CJ, Charbit-Henrion F, Steffann J, Laquerriere A, Quazza F, Buisson NB. Maillard C, et al. Semin Cell Dev Biol. 2023 Mar 15;137:87-95. doi: 10.1016/j.semcdb.2022.07.009. Epub 2022 Jul 30. Semin Cell Dev Biol. 2023. PMID: 35915025 Review.
Key imaging features of tubulinopathies are characterized by three major patterns of malformations of cortical development (MCD): lissencephaly, microlissencephaly, and dysgyria. Additional distinctive MRI features include dysmorphism of the basal ganglia, midline commissu …
Key imaging features of tubulinopathies are characterized by three major patterns of malformations of cortical development (MCD): lissenc
Dandy-Walker Malformation.
Society for Maternal-Fetal Medicine (SMFM); Monteagudo A. Society for Maternal-Fetal Medicine (SMFM), et al. Am J Obstet Gynecol. 2020 Dec;223(6):B38-B41. doi: 10.1016/j.ajog.2020.08.184. Epub 2020 Nov 7. Am J Obstet Gynecol. 2020. PMID: 33168220 Review. No abstract available.
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.
Hebebrand M, Hüffmeier U, Trollmann R, Hehr U, Uebe S, Ekici AB, Kraus C, Krumbiegel M, Reis A, Thiel CT, Popp B. Hebebrand M, et al. Orphanet J Rare Dis. 2019 Feb 11;14(1):38. doi: 10.1186/s13023-019-1020-x. Orphanet J Rare Dis. 2019. PMID: 30744660 Free PMC article. Review.
The most commonly reported features were developmental delay (98%), anomalies of the corpus callosum (96%), microcephaly (76%) and lissencephaly (agyria-pachygyria) (70%), although reporting was incomplete in the different studies. ...
The most commonly reported features were developmental delay (98%), anomalies of the corpus callosum (96%), microcephaly (76%) and lissen
Reelin Functions, Mechanisms of Action and Signaling Pathways During Brain Development and Maturation.
Jossin Y. Jossin Y. Biomolecules. 2020 Jun 26;10(6):964. doi: 10.3390/biom10060964. Biomolecules. 2020. PMID: 32604886 Free PMC article. Review.
As a consequence, the Reelin signaling pathway has been associated with several human brain disorders such as lissencephaly, autism, schizophrenia, bipolar disorder, depression, mental retardation, Alzheimer's disease and epilepsy. ...
As a consequence, the Reelin signaling pathway has been associated with several human brain disorders such as lissencephaly, autism, …
Tubulinopathies.
Gonçalves FG, Freddi TAL, Taranath A, Lakshmanan R, Goetti R, Feltrin FS, Mankad K, Teixeira SR, Hanagandi PB, Arrigoni F. Gonçalves FG, et al. Top Magn Reson Imaging. 2018 Dec;27(6):395-408. doi: 10.1097/RMR.0000000000000188. Top Magn Reson Imaging. 2018. PMID: 30516692 Review.
Somewhat consistent morphological imaging patterns have been described in tubulinopathies such as dysmorphic basal ganglia-the hallmark (found in 75% of cases), callosal dysgenesis, cerebellar hypoplasia/dysplasia, and cortical malformations, most notably lissencephaly. Re …
Somewhat consistent morphological imaging patterns have been described in tubulinopathies such as dysmorphic basal ganglia-the hallmark (fou …
Neuronal Migration Disorders.
Roberts B. Roberts B. Radiol Technol. 2018 Jan;89(3):279-295. Radiol Technol. 2018. PMID: 29298944 Review.
Magnetic resonance imaging plays a primary role in the diagnosis and classification of neuronal migration disorders. These disorders include polymicrogyria, schizencephaly, lissencephaly, heterotopia, and focal cortical dysplasia. Imaging protocols continue to evolve to pr …
Magnetic resonance imaging plays a primary role in the diagnosis and classification of neuronal migration disorders. These disorders include …
Baraitser-Winter cerebrofrontofacial syndrome.
Yates TM, Turner CL, Firth HV, Berg J, Pilz DT. Yates TM, et al. Clin Genet. 2017 Jul;92(1):3-9. doi: 10.1111/cge.12864. Epub 2016 Nov 30. Clin Genet. 2017. PMID: 27625340 Review.
The additional presence of cortical malformations (pachygyria/lissencephaly) and ocular colobomata are also suggestive of this syndrome. ...
The additional presence of cortical malformations (pachygyria/lissencephaly) and ocular colobomata are also suggestive of this syndro …
Neuronal migration.
Lambert de Rouvroit C, Goffinet AM. Lambert de Rouvroit C, et al. Mech Dev. 2001 Jul;105(1-2):47-56. doi: 10.1016/s0925-4773(01)00396-3. Mech Dev. 2001. PMID: 11429281 Free article. Review.
Defective Reelin leads to poor lamination and, in humans, to a lissencephaly phenotype different from type 1 lissencephaly. Although the action of Reelin is unknown, it may trigger some recognition-adhesion among target neurons. Finally, pattern formation requires t …
Defective Reelin leads to poor lamination and, in humans, to a lissencephaly phenotype different from type 1 lissencephaly. Al …
Congenital muscular dystrophies.
Kirschner J. Kirschner J. Handb Clin Neurol. 2013;113:1377-85. doi: 10.1016/B978-0-444-59565-2.00008-3. Handb Clin Neurol. 2013. PMID: 23622361 Review.
The latter group is often associated with neuronal migration defects including lissencephaly, pachygyria, cerebellar and brainstem abnormalities, and variable ocular anomalies. ...
The latter group is often associated with neuronal migration defects including lissencephaly, pachygyria, cerebellar and brainstem ab …
302 results