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Year Number of Results
1979 2
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1986 1
1987 1
1989 1
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1993 3
1994 3
1995 6
1996 4
1997 4
1998 9
1999 13
2000 5
2001 8
2002 5
2003 5
2004 7
2005 4
2006 5
2007 5
2008 10
2009 9
2010 6
2011 12
2012 11
2013 5
2014 11
2015 9
2016 10
2017 15
2018 13
2019 8
2020 10
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2023 4
2024 6

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230 results

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Page 1
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.
Di Donato N, Guerrini R, Billington CJ, Barkovich AJ, Dinkel P, Freri E, Heide M, Gershon ES, Gertler TS, Hopkin RJ, Jacob S, Keedy SK, Kooshavar D, Lockhart PJ, Lohmann DR, Mahmoud IG, Parrini E, Schrock E, Severi G, Timms AE, Webster RI, Willis MJH, Zaki MS, Gleeson JG, Leventer RJ, Dobyns WB. Di Donato N, et al. Brain. 2022 Sep 14;145(9):3274-3287. doi: 10.1093/brain/awac164. Brain. 2022. PMID: 35769015 Free PMC article.
Despite the large size of the gene, only 11 individuals with RELN-related lissencephaly with cerebellar hypoplasia from six families have previously been reported. ...Thorough literature analysis supports a causal role for monoallelic RELN variants in four seemingly distin …
Despite the large size of the gene, only 11 individuals with RELN-related lissencephaly with cerebellar hypoplasia from six families …
Lissencephaly: Expanded imaging and clinical classification.
Di Donato N, Chiari S, Mirzaa GM, Aldinger K, Parrini E, Olds C, Barkovich AJ, Guerrini R, Dobyns WB. Di Donato N, et al. Am J Med Genet A. 2017 Jun;173(6):1473-1488. doi: 10.1002/ajmg.a.38245. Epub 2017 Apr 25. Am J Med Genet A. 2017. PMID: 28440899 Free PMC article.
Lissencephaly ("smooth brain," LIS) is a malformation of cortical development associated with deficient neuronal migration and abnormal formation of cerebral convolutions or gyri. ...Using these data plus published reports, we constructed a new imaging based classification …
Lissencephaly ("smooth brain," LIS) is a malformation of cortical development associated with deficient neuronal migration and abnorm …
Fetal cytomegalovirus infection.
Leruez-Ville M, Ville Y. Leruez-Ville M, et al. Best Pract Res Clin Obstet Gynaecol. 2017 Jan;38:97-107. doi: 10.1016/j.bpobgyn.2016.10.005. Epub 2016 Oct 20. Best Pract Res Clin Obstet Gynaecol. 2017. PMID: 27923540 Review.
However, in the last decade, new data have emerged towards better management of this congenital infection, including solid epidemiological data, good evidence for the accuracy of diagnosis of maternal CMV infection and good evidence for the feasibility of predicting the ou …
However, in the last decade, new data have emerged towards better management of this congenital infection, including solid epidemiological d …
Lissencephaly in an epilepsy cohort: Molecular, radiological and clinical aspects.
Kolbjer S, Martin DA, Pettersson M, Dahlin M, Anderlid BM. Kolbjer S, et al. Eur J Paediatr Neurol. 2021 Jan;30:71-81. doi: 10.1016/j.ejpn.2020.12.011. Epub 2021 Jan 8. Eur J Paediatr Neurol. 2021. PMID: 33453472
The lissencephaly spectrum consists of agyria, pachygyria and subcortical band heterotopia. ...Radiological findings could reliably predict molecular results only in agyria with a posterior to anterior gradient. ...
The lissencephaly spectrum consists of agyria, pachygyria and subcortical band heterotopia. ...Radiological findings could reliably …
Fetal magnetic resonance imaging: supratentorial brain malformations.
Choi JJ, Yang E, Soul JS, Jaimes C. Choi JJ, et al. Pediatr Radiol. 2020 Dec;50(13):1934-1947. doi: 10.1007/s00247-020-04696-z. Epub 2020 Nov 30. Pediatr Radiol. 2020. PMID: 33252760 Review.
To accurately interpret the MRI, the radiologist needs to understand the normal sequence of events that occurs during prenatal brain development; this includes familiarity with the processes of hemispheric cleavage, formation of interhemispheric commissures, neuro-glial prolifera …
To accurately interpret the MRI, the radiologist needs to understand the normal sequence of events that occurs during prenatal brain develop …
Centrosomes, microtubules and neuronal development.
Kuijpers M, Hoogenraad CC. Kuijpers M, et al. Mol Cell Neurosci. 2011 Dec;48(4):349-58. doi: 10.1016/j.mcn.2011.05.004. Epub 2011 May 23. Mol Cell Neurosci. 2011. PMID: 21722732 Review.
Mutations in genes encoding centrosomal proteins cause severe neurodevelopmental disorders that lead to several neuropsychiatric diseases, such as lissencephaly, microcephaly and schizophrenia. While the centrosome has been considered crucial for coordinating neuronal migr …
Mutations in genes encoding centrosomal proteins cause severe neurodevelopmental disorders that lead to several neuropsychiatric diseases, s …
Tubulin genes and malformations of cortical development.
Romaniello R, Arrigoni F, Fry AE, Bassi MT, Rees MI, Borgatti R, Pilz DT, Cushion TD. Romaniello R, et al. Eur J Med Genet. 2018 Dec;61(12):744-754. doi: 10.1016/j.ejmg.2018.07.012. Epub 2018 Jul 17. Eur J Med Genet. 2018. PMID: 30016746 Review.
Mutations in seven genes encoding alpha-tubulin (TUBA1A), beta-tubulin (TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBB) and gamma-tubulin (TUBG1) isoforms have been associated with a wide and overlapping range of brain malformations or "Tubulinopathies". The majority of cortical phenotypes …
Mutations in seven genes encoding alpha-tubulin (TUBA1A), beta-tubulin (TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBB) and gamma-tubulin (TUBG1) isofo …
X-linked malformations of neuronal migration.
Dobyns WB, Andermann E, Andermann F, Czapansky-Beilman D, Dubeau F, Dulac O, Guerrini R, Hirsch B, Ledbetter DH, Lee NS, Motte J, Pinard JM, Radtke RA, Ross ME, Tampieri D, Walsh CA, Truwit CL. Dobyns WB, et al. Neurology. 1996 Aug;47(2):331-9. doi: 10.1212/wnl.47.2.331. Neurology. 1996. PMID: 8757001 Review.
For example, isolated lissencephaly sequence and Miller-Dieker syndrome are caused by deletions involving a lissencephaly gene in chromosome 17p13.3, while many other malformation syndromes have autosomal recessive inheritance. ...The brain malformation varies from …
For example, isolated lissencephaly sequence and Miller-Dieker syndrome are caused by deletions involving a lissencephaly gene …
Clinical and neuroimaging findings in patients with lissencephaly/subcortical band heterotopia spectrum: a magnetic resonance conventional and diffusion tensor study.
Chiba E, Kimura Y, Shimizu-Motohashi Y, Miyagawa N, Ota M, Shigemoto Y, Ohnishi M, Nakaya M, Nakagawa E, Sasaki M, Sato N. Chiba E, et al. Neuroradiology. 2022 Apr;64(4):825-836. doi: 10.1007/s00234-021-02836-2. Epub 2021 Oct 25. Neuroradiology. 2022. PMID: 34693484
PURPOSE: To clarify brain abnormalities on magnetic resonance imaging (MRI) and its clinical implications in lissencephaly/subcortical band heterotopia (LIS/SBH) spectrum patients. ...The brainstem distribution pattern of the corticospinal tract (CST) was analyzed by diffu …
PURPOSE: To clarify brain abnormalities on magnetic resonance imaging (MRI) and its clinical implications in lissencephaly/subcortica …
Physical aspects of cortical folding.
Greiner A, Kaessmair S, Budday S. Greiner A, et al. Soft Matter. 2021 Feb 15;17(5):1210-1222. doi: 10.1039/d0sm02209h. Soft Matter. 2021. PMID: 33480902
The gel specimens possess a two-layered structure accounting for gray and white matter tissue and yield complex surface morphologies that well resemble patterns in the human brain. The results are in good agreement with analytical predictions. Through the variation of cort …
The gel specimens possess a two-layered structure accounting for gray and white matter tissue and yield complex surface morphologies that we …
230 results