173 related articles for article (PubMed ID: 30569621)
1. Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature.
Handoko M; Emrick LT; Rosenfeld JA; Wang X; Tran AA; Turner A; Belmont JW; ; Lee BH; Bacino CA; Chao HT
Am J Med Genet A; 2019 Mar; 179(3):475-479. PubMed ID: 30569621
[TBL] [Abstract][Full Text] [Related]
2. Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
Mirzaa GM; Campbell CD; Solovieff N; Goold C; Jansen LA; Menon S; Timms AE; Conti V; Biag JD; Adams C; Boyle EA; Collins S; Ishak G; Poliachik S; Girisha KM; Yeung KS; Chung BHY; Rahikkala E; Gunter SA; McDaniel SS; Macmurdo CF; Bernstein JA; Martin B; Leary R; Mahan S; Liu S; Weaver M; Doerschner M; Jhangiani S; Muzny DM; Boerwinkle E; Gibbs RA; Lupski JR; Shendure J; Saneto RP; Novotny EJ; Wilson CJ; Sellers WR; Morrissey M; Hevner RF; Ojemann JG; Guerrini R; Murphy LO; Winckler W; Dobyns WB
JAMA Neurol; 2016 Jul; 73(7):836-845. PubMed ID: 27159400
[TBL] [Abstract][Full Text] [Related]
3. Novel neonatal presentation of megalencephaly-polymicrogyria-pigmentary mosaicism syndrome (MPPM) related to MTOR mutation: Report of a case.
Taylor DL; Wildin RS; Morley KW
Pediatr Dermatol; 2021 Mar; 38(2):536-537. PubMed ID: 33325571
[TBL] [Abstract][Full Text] [Related]
4. Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities.
Mroske C; Rasmussen K; Shinde DN; Huether R; Powis Z; Lu HM; Baxter RM; McPherson E; Tang S
BMC Med Genet; 2015 Nov; 16():102. PubMed ID: 26542245
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Carmignac V; Mignot C; Blanchard E; Kuentz P; Aubriot-Lorton MH; Parker VER; Sorlin A; Fraitag S; Courcet JB; Duffourd Y; Rodriguez D; Knox RG; Polubothu S; Boland A; Olaso R; Delepine M; Darmency V; Riachi M; Quelin C; Rollier P; Goujon L; Grotto S; Capri Y; Jacquemont ML; Odent S; Amram D; Chevarin M; Vincent-Delorme C; Catteau B; Guibaud L; Arzimanoglou A; Keddar M; Sarret C; Callier P; Bessis D; Geneviève D; Deleuze JF; Thauvin C; Semple RK; Philippe C; Rivière JB; Kinsler VA; Faivre L; Vabres P
Genet Med; 2021 Aug; 23(8):1484-1491. PubMed ID: 33833411
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
Alcantara D; Timms AE; Gripp K; Baker L; Park K; Collins S; Cheng C; Stewart F; Mehta SG; Saggar A; Sztriha L; Zombor M; Caluseriu O; Mesterman R; Van Allen MI; Jacquinet A; Ygberg S; Bernstein JA; Wenger AM; Guturu H; Bejerano G; Gomez-Ospina N; Lehman A; Alfei E; Pantaleoni C; Conti V; Guerrini R; Moog U; Graham JM; Hevner R; Dobyns WB; O'Driscoll M; Mirzaa GM
Brain; 2017 Oct; 140(10):2610-2622. PubMed ID: 28969385
[TBL] [Abstract][Full Text] [Related]
9. Molecular Diagnosis of Mosaic Overgrowth Syndromes Using a Custom-Designed Next-Generation Sequencing Panel.
Chang F; Liu L; Fang E; Zhang G; Chen T; Cao K; Li Y; Li MM
J Mol Diagn; 2017 Jul; 19(4):613-624. PubMed ID: 28502725
[TBL] [Abstract][Full Text] [Related]
10. Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.
Pirozzi F; Berkseth M; Shear R; Gonzalez L; Timms AE; Sulc J; Pao E; Oyama N; Forzano F; Conti V; Guerrini R; Doherty ES; Saitta SC; Lockwood CM; Pritchard CC; Dobyns WB; Novotny E; Wright JNN; Saneto RP; Friedman S; Hauptman J; Ojemann J; Kapur RP; Mirzaa GM
Brain; 2022 Apr; 145(3):925-938. PubMed ID: 35355055
[TBL] [Abstract][Full Text] [Related]
11. Clinical pitfalls in the diagnosis of segmental overgrowth syndromes: a child with the c.2740G > A mutation in PIK3CA gene.
Maguolo A; Antoniazzi F; Spano A; Fiorini E; Gaudino R; Mauro M; Cantalupo G; Biban P; Maitz S; Cavarzere P
Ital J Pediatr; 2018 Sep; 44(1):110. PubMed ID: 30231930
[TBL] [Abstract][Full Text] [Related]
12. Polymicrogyria in association with hypoglycemia points to mutation in the mTOR pathway.
Stutterd C; McGillivray G; Stark Z; Messazos B; Cameron F; White S; ; Mirzaa G; Leventer R
Eur J Med Genet; 2018 Dec; 61(12):738-740. PubMed ID: 29883676
[TBL] [Abstract][Full Text] [Related]
13. Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant.
Poole RL; Curry PDK; Marcinkute R; Brewer C; Coman D; Hobson E; Johnson D; Lynch SA; Saggar A; Searle C; Scurr I; Turnpenny PD; Vasudevan P; Tatton-Brown K
Am J Med Genet A; 2021 Aug; 185(8):2445-2454. PubMed ID: 34032352
[TBL] [Abstract][Full Text] [Related]
14. De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia.
Terrone G; Voisin N; Abdullah Alfaiz A; Cappuccio G; Vitiello G; Guex N; D'Amico A; James Barkovich A; Brunetti-Pierri N; Del Giudice E; Reymond A
Eur J Hum Genet; 2016 Aug; 24(9):1359-62. PubMed ID: 26860062
[TBL] [Abstract][Full Text] [Related]
15. Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence?
Döcker D; Schubach M; Menzel M; Spaich C; Gabriel HD; Zenker M; Bartholdi D; Biskup S
Eur J Hum Genet; 2015 Mar; 23(3):409-12. PubMed ID: 24939587
[TBL] [Abstract][Full Text] [Related]
16. Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations.
Park HJ; Shin CH; Yoo WJ; Cho TJ; Kim MJ; Seong MW; Park SS; Lee JH; Sim NS; Ko JM
Orphanet J Rare Dis; 2020 Aug; 15(1):205. PubMed ID: 32778138
[TBL] [Abstract][Full Text] [Related]
17. Focal malformations of cortical development: new vistas for molecular pathogenesis.
Lim KC; Crino PB
Neuroscience; 2013 Nov; 252():262-76. PubMed ID: 23892008
[TBL] [Abstract][Full Text] [Related]
18. Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.
Mirzaa GM; Conti V; Timms AE; Smyser CD; Ahmed S; Carter M; Barnett S; Hufnagel RB; Goldstein A; Narumi-Kishimoto Y; Olds C; Collins S; Johnston K; Deleuze JF; Nitschké P; Friend K; Harris C; Goetsch A; Martin B; Boyle EA; Parrini E; Mei D; Tattini L; Slavotinek A; Blair E; Barnett C; Shendure J; Chelly J; Dobyns WB; Guerrini R
Lancet Neurol; 2015 Dec; 14(12):1182-95. PubMed ID: 26520804
[TBL] [Abstract][Full Text] [Related]
19. mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review.
Gordo G; Tenorio J; Arias P; Santos-Simarro F; García-Miñaur S; Moreno JC; Nevado J; Vallespin E; Rodriguez-Laguna L; de Mena R; Dapia I; Palomares-Bralo M; Del Pozo Á; Ibañez K; Silla JC; Barroso E; Ruiz-Pérez VL; Martinez-Glez V; Lapunzina P
Clin Genet; 2018 Apr; 93(4):762-775. PubMed ID: 28892148
[TBL] [Abstract][Full Text] [Related]
20.
Kato K; Miya F; Hamada N; Negishi Y; Narumi-Kishimoto Y; Ozawa H; Ito H; Hori I; Hattori A; Okamoto N; Kato M; Tsunoda T; Kanemura Y; Kosaki K; Takahashi Y; Nagata KI; Saitoh S
J Med Genet; 2019 Jun; 56(6):388-395. PubMed ID: 30573562
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
