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

Year Number of Results
1978 1
1979 1
1983 2
1984 2
1985 1
1986 1
1987 1
1988 1
1989 1
1990 1
1991 2
1993 2
1994 1
1995 5
1996 7
1997 1
1998 4
1999 9
2000 3
2001 5
2002 1
2003 4
2004 4
2005 6
2006 5
2007 7
2008 10
2009 6
2010 7
2011 7
2012 7
2013 8
2014 8
2015 6
2016 9
2017 11
2018 2
2019 8
2020 5
2021 8
2022 6
2024 1

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170 results

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Page 1
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.
This apparent paradox had been justified by persisting gaps in the knowledge of this congenital infection: uncertain epidemiological data, difficulty in the diagnosis of maternal infection, absence of validated prenatal prognostic markers, unavailability of an efficient va …
This apparent paradox had been justified by persisting gaps in the knowledge of this congenital infection: uncertain epidemiological data, d …
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.
Walker-Warburg syndrome.
Vajsar J, Schachter H. Vajsar J, et al. Orphanet J Rare Dis. 2006 Aug 3;1:29. doi: 10.1186/1750-1172-1-29. Orphanet J Rare Dis. 2006. PMID: 16887026 Free PMC article. Review.
A journey through formation and malformations of the neo-cortex.
Reghunath A, Ghasi RG. Reghunath A, et al. Childs Nerv Syst. 2020 Jan;36(1):27-38. doi: 10.1007/s00381-019-04429-0. Epub 2019 Nov 27. Childs Nerv Syst. 2020. PMID: 31776716 Review.
CONCLUSION: Knowledge of the wide imaging spectrum of MCD, familiarity with recent advances in imaging and an optimal radiological approach is essential for the general radiologist to accurately diagnose and prognosticate MCD as well as provide the best surgical approach t …
CONCLUSION: Knowledge of the wide imaging spectrum of MCD, familiarity with recent advances in imaging and an optimal radiological approach …
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 …
A practical approach to prenatal diagnosis of malformations of cortical development.
Lerman-Sagie T, Pogledic I, Leibovitz Z, Malinger G. Lerman-Sagie T, et al. Eur J Paediatr Neurol. 2021 Sep;34:50-61. doi: 10.1016/j.ejpn.2021.08.001. Epub 2021 Aug 3. Eur J Paediatr Neurol. 2021. PMID: 34390998 Review.
In some instances, no further studies are required during pregnancy due to the clear dire prognosis and then the genetic evaluation can be deferred after delivery or termination of pregnancy (in countries where allowed)....
In some instances, no further studies are required during pregnancy due to the clear dire prognosis and then the genetic evaluation c …
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
CONCLUSION: The most common genetic aetiologies in our cohort of 20 individuals with epilepsy and lissencephaly spectrum were intragenic deletions or single nucleotide mutations in PAFAH1B1 or larger deletions in 17p13.3, encompassing PAFAH1B1, followed by mutations in tubulin en …
CONCLUSION: The most common genetic aetiologies in our cohort of 20 individuals with epilepsy and lissencephaly spectrum were intragenic del …
Location and type of mutation in the LIS1 gene do not predict phenotypic severity.
Uyanik G, Morris-Rosendahl DJ, Stiegler J, Klapecki J, Gross C, Berman Y, Martin P, Dey L, Spranger S, Korenke GC, Schreyer I, Hertzberg C, Neumann TE, Burkart P, Spaich C, Meng M, Holthausen H, Adès L, Seidel J, Mangold E, Buyse G, Meinecke P, Schara U, Zeschnigk C, Muller D, Helland G, Schulze B, Wright ML, Kortge-Jung S, Hehr A, Bogdahn U, Schuierer G, Kohlhase J, Aigner L, Wolff G, Hehr U, Winkler J. Uyanik G, et al. Neurology. 2007 Jul 31;69(5):442-7. doi: 10.1212/01.wnl.0000266629.98503.d0. Neurology. 2007. PMID: 17664403
CONCLUSION: In contrast to previous reports, our data suggest that neither type nor position of intragenic mutations in the LIS1 gene allows an unambiguous prediction of the phenotypic severity. Furthermore, patients presenting with mild cerebral malformations such as subc …
CONCLUSION: In contrast to previous reports, our data suggest that neither type nor position of intragenic mutations in the LIS1 gene allows …
The doublecortin gene family and disorders of neuronal structure.
Dijkmans TF, van Hooijdonk LW, Fitzsimons CP, Vreugdenhil E. Dijkmans TF, et al. Cent Nerv Syst Agents Med Chem. 2010 Mar;10(1):32-46. doi: 10.2174/187152410790780118. Cent Nerv Syst Agents Med Chem. 2010. PMID: 20236041 Review.
In addition, to generate new hypotheses for further research, we analyzed the serine, threonine and proline-rich domain for predicted protein interactions....
In addition, to generate new hypotheses for further research, we analyzed the serine, threonine and proline-rich domain for predicted …
Lissencephaly and the molecular basis of neuronal migration.
Kato M, Dobyns WB. Kato M, et al. Hum Mol Genet. 2003 Apr 1;12 Spec No 1:R89-96. doi: 10.1093/hmg/ddg086. Hum Mol Genet. 2003. PMID: 12668601 Review.
Based on detailed genotype-phenotype analysis, we can now infer the most likely causative gene based on brain imaging and other clinical findings, and inversely are becoming able to predict clinical severity based on the specific mutations detected. ...
Based on detailed genotype-phenotype analysis, we can now infer the most likely causative gene based on brain imaging and other clinical fin …
170 results