173 related articles for article (PubMed ID: 26733290)
21. Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability.
Shoubridge C; Walikonis RS; Gécz J; Harvey RJ
Small GTPases; 2010 Sep; 1(2):98-103. PubMed ID: 21686261
[TBL] [Abstract][Full Text] [Related]
22. [Identification of a novel nonsense IQSEC2 variant in a child with X-linked intellectual disability].
Wu R; Tang W; Qiu K; Tang D; Li X; Luo X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Aug; 37(8):823-827. PubMed ID: 32761587
[TBL] [Abstract][Full Text] [Related]
23. Novel exon-skipping variant disrupting the basic domain of HCFC1 causes intellectual disability without metabolic abnormalities in both male and female patients.
Wongkittichote P; Wegner DJ; Shinawi MS
J Hum Genet; 2021 Jul; 66(7):717-724. PubMed ID: 33517344
[TBL] [Abstract][Full Text] [Related]
24. IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?
Lopergolo D; Privitera F; Castello G; Lo Rizzo C; Mencarelli MA; Pinto AM; Ariani F; Currò A; Lamacchia V; Canitano R; Vaghi E; Ferrarini A; Baltodano GM; Lederer D; Van Maldergem L; Serrano M; Pineda M; Fons-Estupina MDC; Van Esch H; Breckpot J; Kumps C; Callewaert B; Mueller S; Ramelli GP; Armstrong J; Renieri A; Mari F
Clin Genet; 2021 Mar; 99(3):462-474. PubMed ID: 33368194
[TBL] [Abstract][Full Text] [Related]
25. [Analysis of IQSEC2 gene variant in a child with X-linked mental retardation].
Zhao J; Yang X; Li J; Wang H; Zhang W; Fang F
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Apr; 39(4):421-424. PubMed ID: 35446980
[TBL] [Abstract][Full Text] [Related]
26. IQSEC2 and X-linked syndromal intellectual disability.
Alexander-Bloch AF; McDougle CJ; Ullman Z; Sweetser DA
Psychiatr Genet; 2016 Jun; 26(3):101-8. PubMed ID: 27010919
[TBL] [Abstract][Full Text] [Related]
27. Novel familial IQSEC2 pathogenic sequence variant associated with neurodevelopmental disorders and epilepsy.
Wayhelova M; Ryzí M; Oppelt J; Hladilkova E; Vallova V; Krskova L; Vilemova M; Polackova H; Gaillyova R; Kuglik P
Neurogenetics; 2020 Oct; 21(4):269-278. PubMed ID: 32564198
[TBL] [Abstract][Full Text] [Related]
28. KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature.
Gonçalves TF; Gonçalves AP; Fintelman Rodrigues N; dos Santos JM; Pimentel MM; Santos-Rebouças CB
Eur J Med Genet; 2014 Mar; 57(4):138-44. PubMed ID: 24583395
[TBL] [Abstract][Full Text] [Related]
29. Altered excitatory transmission onto hippocampal interneurons in the IQSEC2 mouse model of X-linked neurodevelopmental disease.
Sah M; Shore AN; Petri S; Kanber A; Yang M; Weston MC; Frankel WN
Neurobiol Dis; 2020 Apr; 137():104758. PubMed ID: 31978606
[TBL] [Abstract][Full Text] [Related]
30. Preliminary Study on Clinical Characteristics and Pathogenesis of
Ren Y; Luo X; Tong H; Wang S; Yan J; Lin L; Chen Y
Pharmgenomics Pers Med; 2024; 17():289-318. PubMed ID: 38827181
[TBL] [Abstract][Full Text] [Related]
31. IQSEC2 mutation associated with epilepsy, intellectual disability, and autism results in hyperexcitability of patient-derived neurons and deficient synaptic transmission.
Brant B; Stern T; Shekhidem HA; Mizrahi L; Rosh I; Stern Y; Ofer P; Asleh A; Umanah GKE; Jada R; Levy NS; Levy AP; Stern S
Mol Psychiatry; 2021 Dec; 26(12):7498-7508. PubMed ID: 34535765
[TBL] [Abstract][Full Text] [Related]
32. Molecular modeling of ARF6 dysregulation caused by mutations in IQSEC2.
Shokhen M; Walikonis R; Uversky VN; Allbeck A; Zezelic C; Feldman D; Levy NS; Levy AP
J Biomol Struct Dyn; 2024; 42(3):1268-1279. PubMed ID: 37078745
[TBL] [Abstract][Full Text] [Related]
33. RNA analysis and computer-aided facial phenotyping help to classify a novel TRIO splice site variant.
Schwartzmann S; Zhao M; Sczakiel HL; Hildebrand G; Ehmke N; Horn D; Mensah MA; Boschann F
Am J Med Genet A; 2024 Jul; 194(7):e63599. PubMed ID: 38517182
[TBL] [Abstract][Full Text] [Related]
34. Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family.
Kalscheuer VM; James VM; Himelright ML; Long P; Oegema R; Jensen C; Bienek M; Hu H; Haas SA; Topf M; Hoogeboom AJ; Harvey K; Walikonis R; Harvey RJ
Front Mol Neurosci; 2015; 8():85. PubMed ID: 26793055
[TBL] [Abstract][Full Text] [Related]
35. Coexistence of a Homozygous Chromosome 4q35.2 Deletion and Hidden IQSEC2 Pathogenic Variant in a Child with Intellectual Disability.
Karaman Mercan T; Altiok Clark O; Erkal O; Nur B; Mihci E; Karaman B; Senol AU; Berker Karauzum S
Cytogenet Genome Res; 2021; 161(3-4):153-159. PubMed ID: 34229322
[TBL] [Abstract][Full Text] [Related]
36. Electroencephalographic findings and genetic characterization of two brothers with IQSEC2 pathogenic variant.
Izumi T; Aihara Y; Kikuchi A; Kure S
Brain Dev; 2021 May; 43(5):652-656. PubMed ID: 33494955
[TBL] [Abstract][Full Text] [Related]
37. Next-generation sequencing in X-linked intellectual disability.
Tzschach A; Grasshoff U; Beck-Woedl S; Dufke C; Bauer C; Kehrer M; Evers C; Moog U; Oehl-Jaschkowitz B; Di Donato N; Maiwald R; Jung C; Kuechler A; Schulz S; Meinecke P; Spranger S; Kohlhase J; Seidel J; Reif S; Rieger M; Riess A; Sturm M; Bickmann J; Schroeder C; Dufke A; Riess O; Bauer P
Eur J Hum Genet; 2015 Nov; 23(11):1513-8. PubMed ID: 25649377
[TBL] [Abstract][Full Text] [Related]
38. Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype.
Radley JA; O'Sullivan RBG; Turton SE; Cox H; Vogt J; Morton J; Jones E; Smithson S; Lachlan K; Rankin J; Clayton-Smith J; Willoughby J; Elmslie FF; Sansbury FH; Cooper N; ; Balasubramanian M
Clin Genet; 2019 Apr; 95(4):496-506. PubMed ID: 30666632
[TBL] [Abstract][Full Text] [Related]
39. Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay.
Asiri A; Aloyouni E; Umair M; Alyafee Y; Al Tuwaijri A; Alhamoudi KM; Almuzzaini B; Al Baz A; Alwadaani D; Nashabat M; Alfadhel M
Ann Clin Transl Neurol; 2020 Jun; 7(6):956-964. PubMed ID: 32431071
[TBL] [Abstract][Full Text] [Related]
40. Daily Brief Heat Therapy Reduces Seizures in A350V IQSEC2 Mice and Is Associated with Correction of AMPA Receptor-Mediated Synaptic Dysfunction.
Jada R; Borisov V; Laury E; Halpert S; Levy NS; Wagner S; Netser S; Walikonis R; Carmi I; Berlin S; Levy AP
Int J Mol Sci; 2023 Feb; 24(4):. PubMed ID: 36835332
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
