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5. Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder. Koemans TS; Kleefstra T; Chubak MC; Stone MH; Reijnders MRF; de Munnik S; Willemsen MH; Fenckova M; Stumpel CTRM; Bok LA; Sifuentes Saenz M; Byerly KA; Baughn LB; Stegmann APA; Pfundt R; Zhou H; van Bokhoven H; Schenck A; Kramer JM PLoS Genet; 2017 Oct; 13(10):e1006864. PubMed ID: 29069077 [TBL] [Abstract][Full Text] [Related]
6. A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPL Blackburn PR; Tischer A; Zimmermann MT; Kemppainen JL; Sastry S; Knight Johnson AE; Cousin MA; Boczek NJ; Oliver G; Misra VK; Gavrilova RH; Lomberk G; Auton M; Urrutia R; Klee EW J Biol Chem; 2017 Mar; 292(9):3866-3876. PubMed ID: 28057753 [TBL] [Abstract][Full Text] [Related]
7. Biochemical validation of EHMT1 missense mutations in Kleefstra syndrome. Yamada A; Shimura C; Shinkai Y J Hum Genet; 2018 May; 63(5):555-562. PubMed ID: 29459631 [TBL] [Abstract][Full Text] [Related]
8. Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling. Frega M; Linda K; Keller JM; Gümüş-Akay G; Mossink B; van Rhijn JR; Negwer M; Klein Gunnewiek T; Foreman K; Kompier N; Schoenmaker C; van den Akker W; van der Werf I; Oudakker A; Zhou H; Kleefstra T; Schubert D; van Bokhoven H; Nadif Kasri N Nat Commun; 2019 Oct; 10(1):4928. PubMed ID: 31666522 [TBL] [Abstract][Full Text] [Related]
9. Kleefstra-variant syndrome with heterozygous mutations in EHMT1 and KCNQ2 genes: a case report. Marchese G; Rizzo F; Guacci A; Weisz A; Coppola G Neurol Sci; 2016 May; 37(5):829-31. PubMed ID: 26792009 [No Abstract] [Full Text] [Related]
10. Targeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a Kleefstra syndrome patient with autism and normal intellectual performance. Bock I; Németh K; Pentelényi K; Balicza P; Balázs A; Molnár MJ; Román V; Nagy J; Lévay G; Kobolák J; Dinnyés A Gene; 2016 Dec; 595(2):131-141. PubMed ID: 27651234 [TBL] [Abstract][Full Text] [Related]
11. Altered neurite morphology and cholinergic function of induced pluripotent stem cell-derived neurons from a patient with Kleefstra syndrome and autism. Nagy J; Kobolák J; Berzsenyi S; Ábrahám Z; Avci HX; Bock I; Bekes Z; Hodoscsek B; Chandrasekaran A; Téglási A; Dezső P; Koványi B; Vörös ET; Fodor L; Szél T; Németh K; Balázs A; Dinnyés A; Lendvai B; Lévay G; Román V Transl Psychiatry; 2017 Jul; 7(7):e1179. PubMed ID: 28742076 [TBL] [Abstract][Full Text] [Related]
12. Severe neonatal presentation of Kleefstra syndrome in a patient with hypoplastic left heart syndrome and 9q34.3 microdeletion. Campbell CL; Collins RT; Zarate YA Birth Defects Res A Clin Mol Teratol; 2014 Dec; 100(12):985-90. PubMed ID: 25380126 [TBL] [Abstract][Full Text] [Related]
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18. Histone Methylation by the Kleefstra Syndrome Protein EHMT1 Mediates Homeostatic Synaptic Scaling. Benevento M; Iacono G; Selten M; Ba W; Oudakker A; Frega M; Keller J; Mancini R; Lewerissa E; Kleefstra T; Stunnenberg HG; Zhou H; van Bokhoven H; Nadif Kasri N Neuron; 2016 Jul; 91(2):341-55. PubMed ID: 27373831 [TBL] [Abstract][Full Text] [Related]
19. A structured assessment of motor function and behavior in patients with Kleefstra syndrome. Schmidt S; Nag HE; Hunn BS; Houge G; Hoxmark LB Eur J Med Genet; 2016 Apr; 59(4):240-8. PubMed ID: 26808425 [TBL] [Abstract][Full Text] [Related]
20. Pulmonary hypertension in patients with 9q34.3 microdeletion-associated Kleefstra syndrome. Okur V; Nees S; Chung WK; Krishnan U Am J Med Genet A; 2018 Aug; 176(8):1773-1777. PubMed ID: 30063093 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]