Below are the most recent publications written about "Megalencephaly" by people in Profiles.
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Rohde JF, Campbell J, Barbera J, Taylor E, Ramachandra A, Gegg C, Scherer A, Piatt J. Clinical factors associated with need for neurosurgical care in young children with imaging for macrocephaly: a case control study. BMC Pediatr. 2023 11 04; 23(1):555.
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Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Whalen S, Heide S, Keren B, Terhal P, Irving M, Takaku M, Roberts JD, Petrovich RM, Schrier Vergano SA, Kenney A, Hove H, DeChene E, Quinonez SC, Colin E, Ziegler A, Rumple M, Jain M, Monteil D, Roeder ER, Nugent K, van Haeringen A, Gambello M, Santani A, Medne L, Krock B, Skraban CM, Zackai EH, Dubbs HA, Smol T, Ghoumid J, Parker MJ, Wright M, Turnpenny P, Clayton-Smith J, Metcalfe K, Kurumizaka H, Gelb BD, Baris Feldman H, Campeau PM, Muenke M, Wade PA, Lachlan K. The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis. Genet Med. 2020 02; 22(2):389-397.
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Di Donato N, Jean YY, Maga AM, Krewson BD, Shupp AB, Avrutsky MI, Roy A, Collins S, Olds C, Willert RA, Czaja AM, Johnson R, Stover JA, Gottlieb S, Bartholdi D, Rauch A, Goldstein A, Boyd-Kyle V, Aldinger KA, Mirzaa GM, Nissen A, Brigatti KW, Puffenberger EG, Millen KJ, Strauss KA, Dobyns WB, Troy CM, Jinks RN. Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. Am J Hum Genet. 2016 Nov 03; 99(5):1117-1129.
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Tucker J, Choudhary AK, Piatt J. Macrocephaly in infancy: benign enlargement of the subarachnoid spaces and subdural collections. J Neurosurg Pediatr. 2016 Jul; 18(1):16-20.
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Nevado J, Rosenfeld JA, Mena R, Palomares-Bralo M, Vallesp?n E, ?ngeles Mori M, Tenorio JA, Gripp KW, Denenberg E, Del Campo M, Plaja A, Mart?n-Arenas R, Santos-Simarro F, Armengol L, Gowans G, Orera M, Sanchez-Hombre MC, Corbacho-Fern?ndez E, Fern?ndez-Ja?n A, Haldeman-Englert C, Saitta S, Dubbs H, B?n?dicte DB, Li X, Devaney L, Dinulos MB, Vallee S, Crespo MC, Fern?ndez B, Fern?ndez-Monta?o VE, Rueda-Arenas I, de Torres ML, Ellison JW, Raskin S, Venegas-Vega CA, Fern?ndez-Ram?rez F, Delicado A, Garc?a-Mi?a?r S, Lapunzina P. PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome. Eur J Hum Genet. 2015 Dec; 23(12):1615-26.
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Bardsley MZ, Kowal K, Levy C, Gosek A, Ayari N, Tartaglia N, Lahlou N, Winder B, Grimes S, Ross JL. 47,XYY syndrome: clinical phenotype and timing of ascertainment. J Pediatr. 2013 Oct; 163(4):1085-94.
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Rivi?re 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, Majewski J, Bulman DE, O'Driscoll M, Shendure J, Graham JM, Boycott KM, Dobyns WB. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet. 2012 Jun 24; 44(8):934-40.
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Gripp KW, Hopkins E, Serrano A, Leonard NJ, Stabley DL, Sol-Church K. Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype. Am J Med Genet A. 2012 May; 158A(5):1095-101.