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

Year Number of Results
1988 2
1989 1
1990 2
1992 1
1993 4
1994 1
1995 3
1996 3
1997 2
1999 1
2000 1
2001 1
2002 1
2003 2
2005 1
2006 2
2007 4
2008 7
2009 3
2010 3
2011 1
2012 2
2013 2
2014 2
2015 4
2020 2
2021 2
2022 1
2023 4
2024 0

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60 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 ban
Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller-Dieker syndrome.
Baker EK, Brewer CJ, Ferreira L, Schapiro M, Tenney J, Wied HM, Kline-Fath BM, Smolarek TA, Weaver KN, Hopkin RJ. Baker EK, et al. Am J Med Genet A. 2023 Feb;191(2):526-539. doi: 10.1002/ajmg.a.63057. Epub 2022 Nov 25. Am J Med Genet A. 2023. PMID: 36433683 Free PMC article. Review.
Deletion of 17p13.3 has varying degrees of severity on brain development based on precise location and size of the deletion. The most severe phenotype is Miller-Dieker syndrome (MDS) which is characterized by lissencephaly, dysmorphic facial features, growth …
Deletion of 17p13.3 has varying degrees of severity on brain development based on precise location and size of the deletion. The most severe …
Mimics and chameleons in Guillain-Barre and Miller Fisher syndromes.
Wakerley BR, Yuki N. Wakerley BR, et al. Pract Neurol. 2015 Apr;15(2):90-9. doi: 10.1136/practneurol-2014-000937. Epub 2014 Sep 19. Pract Neurol. 2015. PMID: 25239628 Review.
Guillain-Barre syndrome (GBS) and its variant, Miller Fisher syndrome (MFS) have several subtypes, together forming a continuous spectrum of discrete and overlapping syndromes. ...
Guillain-Barre syndrome (GBS) and its variant, Miller Fisher syndrome (MFS) have several subtypes, together forming a c …
The Miller-Dieker syndrome: a case report and review of the literature.
Izmeth MG, Parameshwar E. Izmeth MG, et al. J Ment Defic Res. 1989 Jun;33 ( Pt 3):267-70. doi: 10.1111/j.1365-2788.1989.tb01475.x. J Ment Defic Res. 1989. PMID: 2666671 Review.
A case of Miller-Dieker syndrome is reported. A 6-month-old baby girl has the characteristics of the syndrome. ...
A case of Miller-Dieker syndrome is reported. A 6-month-old baby girl has the characteristics of the syndrome. . …
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.
Denommé-Pichon AS, Collins SC, Bruel AL, Mikhaleva A, Wagner C, Vancollie VE, Thomas Q, Chevarin M, Weber M, Prada CE, Overs A, Palomares-Bralo M, Santos-Simarro F, Pacio-Míguez M, Busa T, Legius E, Bacino CA, Rosenfeld JA, Le Guyader G, Egloff M, Le Guillou X, Mencarelli MA, Renieri A, Grosso S, Levy J, Dozières B, Desguerre I, Vitobello A, Duffourd Y, Lelliott CJ, Thauvin-Robinet C, Philippe C, Faivre L, Yalcin B. Denommé-Pichon AS, et al. Genet Med. 2023 Jul;25(7):100835. doi: 10.1016/j.gim.2023.100835. Epub 2023 Mar 28. Genet Med. 2023. PMID: 36999555 Free article. Review.
PURPOSE: Miller-Dieker syndrome is caused by a multiple gene deletion, including PAFAH1B1 and YWHAE. ...
PURPOSE: Miller-Dieker syndrome is caused by a multiple gene deletion, including PAFAH1B1 and YWHAE. ...
Molecular genetics in neurology.
Martin JB. Martin JB. Ann Neurol. 1993 Dec;34(6):757-73. doi: 10.1002/ana.410340603. Ann Neurol. 1993. PMID: 8250524 Review.
Abnormalities in the genes for Huntington disease, neurofibromatosis types 1 and 2, one form of familial amyotrophic lateral sclerosis, fragile X syndrome, myotonic dystrophy, Kennedy syndrome, Menkes disease, and several forms of retinitis pigmentosa have been eluc …
Abnormalities in the genes for Huntington disease, neurofibromatosis types 1 and 2, one form of familial amyotrophic lateral sclerosis, frag …
[Miller-Dieker syndrome].
Iinuma K. Iinuma K. Ryoikibetsu Shokogun Shirizu. 2000;(28 Pt 3):444. Ryoikibetsu Shokogun Shirizu. 2000. PMID: 11043289 Review. Japanese. No abstract available.
[Miller-Dieker syndrome].
Yokoyama Y, Narahara K. Yokoyama Y, et al. Ryoikibetsu Shokogun Shirizu. 1996;(15):217-9. Ryoikibetsu Shokogun Shirizu. 1996. PMID: 9047991 Review. Japanese. No abstract available.
Chromosomal abnormalities and epilepsy: a review for clinicians and gene hunters.
Singh R, Gardner RJ, Crossland KM, Scheffer IE, Berkovic SF. Singh R, et al. Epilepsia. 2002 Feb;43(2):127-40. doi: 10.1046/j.1528-1157.2002.19498.x. Epilepsia. 2002. PMID: 11903458 Free article. Review.
Eight chromosomal disorders had a high association with epilepsy. These comprised: the Wolf-Hirschhorn (4p-) syndrome, Miller-Dieker syndrome (del 17p13.3), Angelman syndrome (del 15q11-q13), the inversion duplication 15 syndrome, termina …
Eight chromosomal disorders had a high association with epilepsy. These comprised: the Wolf-Hirschhorn (4p-) syndrome, Miller- …
60 results