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Items: 9

1.

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.

2.

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.

Lee JH, Huynh M, Silhavy JL, Kim S, Dixon-Salazar T, Heiberg A, Scott E, Bafna V, Hill KJ, Collazo A, Funari V, Russ C, Gabriel SB, Mathern GW, Gleeson JG.

Nat Genet. 2012 Jun 24;44(8):941-5. doi: 10.1038/ng.2329.

3.

Somatic activation of AKT3 causes hemispheric developmental brain malformations.

Poduri A, Evrony GD, Cai X, Elhosary PC, Beroukhim R, Lehtinen MK, Hills LB, Heinzen EL, Hill A, Hill RS, Barry BJ, Bourgeois BF, Riviello JJ, Barkovich AJ, Black PM, Ligon KL, Walsh CA.

Neuron. 2012 Apr 12;74(1):41-8. doi: 10.1016/j.neuron.2012.03.010.

4.

Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.

Mirzaa GM, Conway RL, Gripp KW, Lerman-Sagie T, Siegel DH, deVries LS, Lev D, Kramer N, Hopkins E, Graham JM Jr, Dobyns WB.

Am J Med Genet A. 2012 Feb;158A(2):269-91. doi: 10.1002/ajmg.a.34402. Epub 2012 Jan 6.

PMID:
22228622
5.

Megalencephaly, mega corpus callosum, and complete lack of motor development: delineation of a rare syndrome.

Hengst M, Tücke J, Zerres K, Blaum M, Häusler M.

Am J Med Genet A. 2010 Sep;152A(9):2360-4. doi: 10.1002/ajmg.a.33577.

PMID:
20803648
6.

Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes.

Gripp KW, Hopkins E, Vinkler C, Lev D, Malinger G, Lerman-Sagie T, Dobyns WB.

Am J Med Genet A. 2009 May;149A(5):868-76. doi: 10.1002/ajmg.a.32732.

PMID:
19353582
7.

A patient with the syndrome of megalencephaly, mega corpus callosum and complete lack of motor development.

Dagli AI, Stalker HJ, Williams CA.

Am J Med Genet A. 2008 Jan 15;146A(2):204-7.

PMID:
18076119
8.

Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures.

Mirzaa G, Dodge NN, Glass I, Day C, Gripp K, Nicholson L, Straub V, Voit T, Dobyns WB.

Neuropediatrics. 2004 Dec;35(6):353-9.

PMID:
15627943
9.

Megalencephaly, mega corpus callosum, and complete lack of motor development: a previously undescribed syndrome.

Göhlich-Ratmann G, Baethmann M, Lorenz P, Gärtner J, Goebel HH, Engelbrecht V, Christen HJ, Lenard HG, Voit T.

Am J Med Genet. 1998 Sep 23;79(3):161-7.

PMID:
9788554

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