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1986
2025

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

Year Number of Results
1986 1
1987 1
1988 2
1989 1
1990 2
1991 2
1993 3
1994 1
1995 1
1998 1
2000 4
2001 3
2002 2
2003 5
2007 1
2008 1
2010 4
2011 1
2012 5
2013 8
2014 11
2015 11
2016 5
2017 9
2018 9
2019 14
2020 9
2021 13
2022 12
2023 12
2024 6
2025 0

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139 results

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Page 1
mTOR pathway: Insights into an established pathway for brain mosaicism in epilepsy.
Gerasimenko A, Baldassari S, Baulac S. Gerasimenko A, et al. Neurobiol Dis. 2023 Jun 15;182:106144. doi: 10.1016/j.nbd.2023.106144. Epub 2023 May 4. Neurobiol Dis. 2023. PMID: 37149062 Free article. Review.
The 'mTORopathies' comprise a spectrum of cortical malformations that range from whole brain (megalencephaly) and hemispheric (hemimegalencephaly) abnormalities to focal abnormalities, such as focal cortical dysplasia type II (FCDII), which manifest with drug-resistant epi …
The 'mTORopathies' comprise a spectrum of cortical malformations that range from whole brain (megalencephaly) and hemispheric (hemime …
PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.
Keppler-Noreuil KM, Rios JJ, Parker VE, Semple RK, Lindhurst MJ, Sapp JC, Alomari A, Ezaki M, Dobyns W, Biesecker LG. Keppler-Noreuil KM, et al. Am J Med Genet A. 2015 Feb;167A(2):287-95. doi: 10.1002/ajmg.a.36836. Epub 2014 Dec 31. Am J Med Genet A. 2015. PMID: 25557259 Free PMC article.
Historically, the clinical diagnoses in patients with PIK3CA activating mutations have included Fibroadipose hyperplasia or Overgrowth (FAO), Hemihyperplasia Multiple Lipomatosis (HHML), Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Scoliosis/Skeletal …
Historically, the clinical diagnoses in patients with PIK3CA activating mutations have included Fibroadipose hyperplasia or Overgrowth (FAO) …
Imaging of Macrocephaly.
Neuberger I, Stence NV, Maloney JA, White CJ, Mirsky DM. Neuberger I, et al. Clin Perinatol. 2022 Sep;49(3):715-734. doi: 10.1016/j.clp.2022.05.006. Clin Perinatol. 2022. PMID: 36113931 Review.
Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review.
Pascual P, Tenorio-Castano J, Mignot C, Afenjar A, Arias P, Gallego-Zazo N, Parra A, Miranda L, Cazalla M, Silván C, Heron D, Keren B, Popa I, Palomares M, Rikeros E, Ramos FJ, Almoguera B, Ayuso C, Swafiri ST, Barbero AIS, Srinivasan VM, Gowda VK, Morleo M, Nigro V, D'Arrigo S, Ciaccio C, Martin Mesa C, Paumard B, Guillen G, Anton ATS, Jimenez MD, Seidel V, Suárez J, Cormier-Daire V, Consortium TS, Nevado J, Lapunzina P. Pascual P, et al. Genes (Basel). 2023 Aug 23;14(9):1664. doi: 10.3390/genes14091664. Genes (Basel). 2023. PMID: 37761804 Free PMC article. Review.
Megalencephaly: definition and classification.
Gooskens RH, Willemse J, Bijlsma JB, Hanlo PW. Gooskens RH, et al. Brain Dev. 1988;10(1):1-7. doi: 10.1016/s0387-7604(88)80037-8. Brain Dev. 1988. PMID: 3285723 Review.
The various definitions and classifications of megalencephaly are reviewed, and numerous diseases and syndromes associated with megalencephaly are listed. ...The clinical pictures in these main groups of megalencephaly, and the largest subgroup of anatomic …
The various definitions and classifications of megalencephaly are reviewed, and numerous diseases and syndromes associated with me
From microcephaly to megalencephaly: determinants of brain size.
Pirozzi F, Nelson B, Mirzaa G. Pirozzi F, et al. Dialogues Clin Neurosci. 2018 Dec;20(4):267-282. doi: 10.31887/DCNS.2018.20.4/gmirzaa. Dialogues Clin Neurosci. 2018. PMID: 30936767 Free PMC article. Review.
Thorough review of the genetic literature reveals that human microcephaly and megalencephaly are caused by mutations of a rapidly growing number of genes linked within critical cellular pathways that impact early brain development, with important pathomechanistic links to …
Thorough review of the genetic literature reveals that human microcephaly and megalencephaly are caused by mutations of a rapidly gro …
Megalencephaly-capillary malformation syndrome and associated hydrocephalus: treatment options and revision of the literature.
Alamar M, Candela S, Flor-Goikoetxea A, Salvador H, Martinez-Monseny AF, Muchart J, Hinojosa J. Alamar M, et al. Childs Nerv Syst. 2021 Aug;37(8):2441-2449. doi: 10.1007/s00381-021-05222-8. Epub 2021 May 28. Childs Nerv Syst. 2021. PMID: 34047857 Review.
PURPOSE: We describe our series of 4 patients with megalencephaly-capillary malformation syndrome (MCAP) and review the literature in order to assess the optimal treatment for the associated hydrocephalus. ...
PURPOSE: We describe our series of 4 patients with megalencephaly-capillary malformation syndrome (MCAP) and review the literature in …
Megalencephaly-capillary malformation polymicrogyria: A review and complex pediatric case report.
Loughan AR, Harrell M, Perna R, Allen A, Suddarth B. Loughan AR, et al. Appl Neuropsychol Child. 2017 Oct-Dec;6(4):369-377. doi: 10.1080/21622965.2016.1182432. Epub 2016 May 23. Appl Neuropsychol Child. 2017. PMID: 27216985 Review.
Megalencephaly-Capillary Malformation Polymicrogyria (M-CAP) is a rare genetic disorder characterized by a spectrum of anomalies including macrocephaly and neurovascular malformations. ...
Megalencephaly-Capillary Malformation Polymicrogyria (M-CAP) is a rare genetic disorder characterized by a spectrum of anomalies incl
A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment.
Pavone P, Praticò AD, Rizzo R, Corsello G, Ruggieri M, Parano E, Falsaperla R. Pavone P, et al. Medicine (Baltimore). 2017 Jun;96(26):e6814. doi: 10.1097/MD.0000000000006814. Medicine (Baltimore). 2017. PMID: 28658095 Free PMC article. Review.
Megalencephaly and macrocephaly present with a head circumference measurement 2 standard deviations above the age-related mean. ...In this article, we seek to underline the clinical aspect of megalencephaly, emphasizing the main disorders that manifest with this ano
Megalencephaly and macrocephaly present with a head circumference measurement 2 standard deviations above the age-related mean. ...In
139 results