These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
258 related articles for article (PubMed ID: 30936767)
1. From microcephaly to megalencephaly: determinants of brain size. Pirozzi F; Nelson B; Mirzaa G Dialogues Clin Neurosci; 2018 Dec; 20(4):267-282. PubMed ID: 30936767 [TBL] [Abstract][Full Text] [Related]
2. Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report. Schultz-Rogers L; Muthusamy K; Pinto E Vairo F; Klee EW; Lanpher B BMC Med Genet; 2020 Nov; 21(1):219. PubMed ID: 33167890 [TBL] [Abstract][Full Text] [Related]
3. Cerebral organoids to unravel the mechanisms underlying malformations of human cortical development. Krefft O; Koch P; Ladewig J Semin Cell Dev Biol; 2021 Mar; 111():15-22. PubMed ID: 32741653 [TBL] [Abstract][Full Text] [Related]
4. Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes. Pirozzi F; Lee B; Horsley N; Burkardt DD; Dobyns WB; Graham JM; Dentici ML; Cesario C; Schallner J; Porrmann J; Di Donato N; Sanchez-Lara PA; Mirzaa GM Am J Med Genet A; 2021 Sep; 185(9):2719-2738. PubMed ID: 34087052 [TBL] [Abstract][Full Text] [Related]
5. Reciprocal Relationship between Head Size, an Autism Endophenotype, and Gene Dosage at 19p13.12 Points to AKAP8 and AKAP8L. Nebel RA; Kirschen J; Cai J; Woo YJ; Cherian K; Abrahams BS PLoS One; 2015; 10(6):e0129270. PubMed ID: 26076356 [TBL] [Abstract][Full Text] [Related]
6. PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome. Nevado J; Rosenfeld JA; Mena R; Palomares-Bralo M; Vallespín E; Ángeles Mori M; Tenorio JA; Gripp KW; Denenberg E; Del Campo M; Plaja A; Martín-Arenas R; Santos-Simarro F; Armengol L; Gowans G; Orera M; Sanchez-Hombre MC; Corbacho-Fernández E; Fernández-Jaén A; Haldeman-Englert C; Saitta S; Dubbs H; Bénédicte DB; Li X; Devaney L; Dinulos MB; Vallee S; Crespo MC; Fernández B; Fernández-Montaño VE; Rueda-Arenas I; de Torres ML; Ellison JW; Raskin S; Venegas-Vega CA; Fernández-Ramírez F; Delicado A; García-Miñaúr S; Lapunzina P Eur J Hum Genet; 2015 Dec; 23(12):1615-26. PubMed ID: 25853300 [TBL] [Abstract][Full Text] [Related]
7. PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia. Jansen LA; Mirzaa GM; Ishak GE; O'Roak BJ; Hiatt JB; Roden WH; Gunter SA; Christian SL; Collins S; Adams C; Rivière JB; St-Onge J; Ojemann JG; Shendure J; Hevner RF; Dobyns WB Brain; 2015 Jun; 138(Pt 6):1613-28. PubMed ID: 25722288 [TBL] [Abstract][Full Text] [Related]
8. Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders. Li J; Wang L; Guo H; Shi L; Zhang K; Tang M; Hu S; Dong S; Liu Y; Wang T; Yu P; He X; Hu Z; Zhao J; Liu C; Sun ZS; Xia K Mol Psychiatry; 2017 Sep; 22(9):1282-1290. PubMed ID: 28831199 [TBL] [Abstract][Full Text] [Related]
9. 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]
11. Endosomal trafficking defects alter neural progenitor proliferation and cause microcephaly. Carpentieri JA; Di Cicco A; Lampic M; Andreau D; Del Maestro L; El Marjou F; Coquand L; Bahi-Buisson N; Brault JB; Baffet AD Nat Commun; 2022 Jan; 13(1):16. PubMed ID: 35013230 [TBL] [Abstract][Full Text] [Related]
12. To eat, or not to eat, that is the question: Neural stem cells escape phagocytosis in autism with macrocephaly. Schafer ST; Gage FH Proc Natl Acad Sci U S A; 2021 May; 118(19):. PubMed ID: 33883269 [No Abstract] [Full Text] [Related]
13. Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. 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 Am J Hum Genet; 2016 Nov; 99(5):1117-1129. PubMed ID: 27773430 [TBL] [Abstract][Full Text] [Related]
14. Brain overgrowth in disorders of RTK-PI3K-AKT signaling: a mosaic of malformations. Hevner RF Semin Perinatol; 2015 Feb; 39(1):36-43. PubMed ID: 25432429 [TBL] [Abstract][Full Text] [Related]
15. A disorder-related variant (E420K) of a PP2A-regulatory subunit (PPP2R5D) causes constitutively active AKT-mTOR signaling and uncoordinated cell growth. Papke CM; Smolen KA; Swingle MR; Cressey L; Heng RA; Toporsian M; Deng L; Hagen J; Shen Y; Chung WK; Kettenbach AN; Honkanen RE J Biol Chem; 2021; 296():100313. PubMed ID: 33482199 [TBL] [Abstract][Full Text] [Related]
16. Abnormal cranium development in children and adolescents affected by syndromes or diseases associated with neurodysfunction. Guzik A; Perenc L; Drużbicki M; Podgórska-Bednarz J Sci Rep; 2021 Feb; 11(1):2908. PubMed ID: 33536524 [TBL] [Abstract][Full Text] [Related]
17. Molecular genetics of human microcephaly. Mochida GH; Walsh CA Curr Opin Neurol; 2001 Apr; 14(2):151-6. PubMed ID: 11262728 [TBL] [Abstract][Full Text] [Related]
18. Neurodevelopmental disorders in children with macrocephaly: A prevalence study and PTEN gene analysis. Kurata H; Shirai K; Saito Y; Okazaki T; Ohno K; Oguri M; Adachi K; Nanba E; Maegaki Y Brain Dev; 2018 Jan; 40(1):36-41. PubMed ID: 28774669 [TBL] [Abstract][Full Text] [Related]
19. Equivocal evidence for a link between megalencephaly-related genes and primate brain size evolution. DeCasien AR; Trujillo AE; Janiak MC; Harshaw EP; Caes ZN; Galindo GA; Petersen RM; Higham JP Sci Rep; 2022 Jun; 12(1):10902. PubMed ID: 35764790 [TBL] [Abstract][Full Text] [Related]
20. A homozygous founder mutation in Marin-Valencia I; Novarino G; Johansen A; Rosti B; Issa MY; Musaev D; Bhat G; Scott E; Silhavy JL; Stanley V; Rosti RO; Gleeson JW; Imam FB; Zaki MS; Gleeson JG J Med Genet; 2018 Jan; 55(1):48-54. PubMed ID: 28626029 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]