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megalencephaly相关文献:
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 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
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 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
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
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.
DYGGVE H, TYGSTRUP I.
Dev Med Child Neurol. 1964 Dec;6:581-4. doi: 10.1111/j.1469-8749.1964.tb02796.x.
PMID:14248475
Syndrome of megalencephaly, mega corpus callosum, and complete lack of motor development: an unusual case and a literature review.
Cetin EB, Bilgici MNC, Tuncer GO, Karabag IS, Aydin S.
Childs Nerv Syst. 2024 Jan;40(1):219-225. doi: 10.1007/s00381-023-06150-5. Epub 2023 Sep 9.
PMID:37688615
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
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