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7. Identification of a PTEN mutation with reduced protein stability, phosphatase activity, and nuclear localization in Hong Kong patients with autistic features, neurodevelopmental delays, and macrocephaly. Wong CW; Or PMY; Wang Y; Li L; Li J; Yan M; Cao Y; Luk HM; Tong TMF; Leslie NR; Lo IF; Choy KW; Chan AML Autism Res; 2018 Aug; 11(8):1098-1109. PubMed ID: 29608813 [TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 32631464 [TBL] [Abstract][Full Text] [Related]
9. Polymicrogyria is Associated With Pathogenic Variants in PTEN. Shao DD; Achkar CM; Lai A; Srivastava S; Doan RN; Rodan LH; Chen AY; ; Poduri A; Yang E; Walsh CA Ann Neurol; 2020 Dec; 88(6):1153-1164. PubMed ID: 32959437 [TBL] [Abstract][Full Text] [Related]
10. Megalencephaly, polymicrogyria and ribbon-like band heterotopia: A new cortical malformation. Kobayashi Y; Magara S; Okazaki K; Komatsubara T; Saitsu H; Matsumoto N; Kato M; Tohyama J Brain Dev; 2016 Nov; 38(10):950-953. PubMed ID: 27381655 [TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 31441589 [TBL] [Abstract][Full Text] [Related]
12. Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings. Szalai R; Melegh BI; Till A; Ripszam R; Csabi G; Acharya A; Schrauwen I; Leal SM; Komoly S; Kosztolanyi G; Hadzsiev K Exp Mol Pathol; 2020 Aug; 115():104471. PubMed ID: 32446860 [TBL] [Abstract][Full Text] [Related]
13. Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly. Kaymakcalan H; Kaya İ; Cevher Binici N; Nikerel E; Özbaran B; Görkem Aksoy M; Erbilgin S; Özyurt G; Jahan N; Çelik D; Yararbaş K; Yalçınkaya L; Köse S; Durak S; Ercan-Sencicek AG Mol Genet Genomic Med; 2021 Aug; 9(8):e1739. PubMed ID: 34268892 [TBL] [Abstract][Full Text] [Related]
14. Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP. Mirzaa GM; Rivière JB; Dobyns WB Am J Med Genet C Semin Med Genet; 2013 May; 163C(2):122-30. PubMed ID: 23592320 [TBL] [Abstract][Full Text] [Related]
15. Clinical presentation of PTEN mutations in childhood in the absence of family history of Cowden syndrome. Busa T; Milh M; Degardin N; Girard N; Sigaudy S; Longy M; Olshchwang S; Sobol H; Chabrol B; Philip N Eur J Paediatr Neurol; 2015 Mar; 19(2):188-92. PubMed ID: 25549896 [TBL] [Abstract][Full Text] [Related]
16. Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. Vanderver A; Tonduti D; Kahn I; Schmidt J; Medne L; Vento J; Chapman KA; Lanpher B; Pearl P; Gropman A; Lourenco C; Bamforth JS; Sharpe C; Pineda M; Schallner J; Bodamer O; Orcesi S; Oberstein SA; Sistermans EA; Yntema HG; Bonnemann C; Waldman AT; van der Knaap MS Am J Med Genet A; 2014 Mar; 164A(3):627-33. PubMed ID: 24375884 [TBL] [Abstract][Full Text] [Related]
17. Autism spectrum disorder in a child with megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP). St John LJ; Rao N BMJ Case Rep; 2021 Dec; 14(12):. PubMed ID: 34969807 [TBL] [Abstract][Full Text] [Related]
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19. Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence? Saletti V; Esposito S; Maccaro A; Giglio S; Valentini LG; Chiapparini L Eur J Med Genet; 2017 May; 60(5):261-264. PubMed ID: 28286253 [TBL] [Abstract][Full Text] [Related]
20. Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience. Ciaccio C; Saletti V; D'Arrigo S; Esposito S; Alfei E; Moroni I; Tonduti D; Chiapparini L; Pantaleoni C; Milani D Eur J Med Genet; 2019 Dec; 62(12):103596. PubMed ID: 30528446 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]