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megalencephaly相关文献:
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.
Childs Nerv Syst. 2021 Aug;37(8):2441-2449. doi: 10.1007/s00381-021-05222-8. Epub 2021 May 28.
PMID:34047857
From microcephaly to megalencephaly: determinants of brain size.
Pirozzi F, Nelson B, Mirzaa G.
Dialogues Clin Neurosci. 2018 Dec;20(4):267-282. doi: 10.31887/DCNS.2018.20.4/gmirzaa.
PMID:30936767
Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR.
Dobyns WB, Mirzaa GM.
Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):582-590. doi: 10.1002/ajmg.c.31736. Epub 2019 Aug 23.
PMID:31441589
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
Rivière JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, Albrecht B, Armour CM, Armstrong L, Caluseriu O, Cytrynbaum C, Drolet BA, Innes AM, Lauzon JL, Lin AE, Mancini GM, Meschino WS, Reggin JD, Saggar AK, Lerman-Sagie T, Uyanik G, Weksberg R, Zirn B, Beaulieu CL; Finding of Rare Disease Genes (FORGE) Canada Consortium; Majewski J, Bulman DE, O'Driscoll M, Shendure J, Graham JM Jr, Boycott KM, Dobyns WB.
Nat Genet. 2012 Jun 24;44(8):934-40. doi: 10.1038/ng.2331.
PMID:22729224
Megalencephaly-capillary malformation polymicrogyria: A review and complex pediatric case report.
Loughan AR, Harrell M, Perna R, Allen A, Suddarth B.
Appl Neuropsychol Child. 2017 Oct-Dec;6(4):369-377. doi: 10.1080/21622965.2016.1182432. Epub 2016 May 23.
PMID:27216985
Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiology.
Mirzaa GM, Poduri A.
Am J Med Genet C Semin Med Genet. 2014 Jun;166C(2):156-72. doi: 10.1002/ajmg.c.31401. Epub 2014 May 28.
PMID:24888963
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.
Medicine (Baltimore). 2017 Jun;96(26):e6814. doi: 10.1097/MD.0000000000006814.
PMID:28658095
Megalencephaly and Macrocephaly.
Winden KD, Yuskaitis CJ, Poduri A.
Semin Neurol. 2015 Jun;35(3):277-87. doi: 10.1055/s-0035-1552622. Epub 2015 Jun 10.
PMID:26060907
Megalencephaly-Capillary Malformation-Polymicrogyria with Cerebral Venous Thrombosis.
Fortin O, Ashour M, Lacroix C, Sabapathy CA, Myers KA.
Can J Neurol Sci. 2020 Nov;47(6):828-829. doi: 10.1017/cjn.2020.127. Epub 2020 Jun 23.
PMID:32631464
MEGALENCEPHALY.
DYGGVE H, TYGSTRUP I.
Dev Med Child Neurol. 1964 Dec;6:581-4. doi: 10.1111/j.1469-8749.1964.tb02796.x.
PMID:14248475
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