194 related articles for article (PubMed ID: 33789733)
21. Three intellectual disability-associated de novo mutations in MECP2 identified by trio-WES analysis.
Gu Y; Xiang B; Zhu L; Ma X; Chen X; Cai T
BMC Med Genet; 2020 May; 21(1):99. PubMed ID: 32393352
[TBL] [Abstract][Full Text] [Related]
22. Medulloblastoma-associated mutations in the DEAD-box RNA helicase DDX3X/DED1 cause specific defects in translation.
Brown NP; Vergara AM; Whelan AB; Guerra P; Bolger TA
J Biol Chem; 2021; 296():100296. PubMed ID: 33460649
[TBL] [Abstract][Full Text] [Related]
23. Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.
Giorgio E; Ciolfi A; Biamino E; Caputo V; Di Gregorio E; Belligni EF; Calcia A; Gaidolfi E; Bruselles A; Mancini C; Cavalieri S; Molinatto C; Cirillo Silengo M; Ferrero GB; Tartaglia M; Brusco A
Am J Med Genet A; 2016 Jul; 170(7):1772-9. PubMed ID: 27108886
[TBL] [Abstract][Full Text] [Related]
24. Developmental and Behavioral Phenotypes in a Mouse Model of DDX3X Syndrome.
Boitnott A; Garcia-Forn M; Ung DC; Niblo K; Mendonca D; Park Y; Flores M; Maxwell S; Ellegood J; Qiu LR; Grice DE; Lerch JP; Rasin MR; Buxbaum JD; Drapeau E; De Rubeis S
Biol Psychiatry; 2021 Dec; 90(11):742-755. PubMed ID: 34344536
[TBL] [Abstract][Full Text] [Related]
25. Autistic-like Behaviors Associated with a Novel Non-Canonical Splice-Site
Stefaniak U; Malak R; Mojs E; Samborski W
Brain Sci; 2022 Mar; 12(3):. PubMed ID: 35326346
[TBL] [Abstract][Full Text] [Related]
26. Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.
Asadollahi R; Zweier M; Gogoll L; Schiffmann R; Sticht H; Steindl K; Rauch A
Eur J Med Genet; 2017 Sep; 60(9):451-464. PubMed ID: 28645799
[TBL] [Abstract][Full Text] [Related]
27. Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning USP9X, DDX3X, and CASK genes in two patients with syndromic intellectual disability.
Catino G; Genovese S; Di Tommaso S; Orlando V; Petti MT; De Bernardi ML; Dallapiccola B; Novelli A; Ulgheri L; Piscopo C; Alesi V
Am J Med Genet A; 2022 Jun; 188(6):1836-1847. PubMed ID: 35238482
[TBL] [Abstract][Full Text] [Related]
28. De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features.
Douglas G; Cho MT; Telegrafi A; Winter S; Carmichael J; Zackai EH; Deardorff MA; Harr M; Williams L; Psychogios A; Erwin AL; Grebe T; Retterer K; Juusola J
Am J Med Genet A; 2018 Sep; 176(9):1845-1851. PubMed ID: 30055086
[TBL] [Abstract][Full Text] [Related]
29. Trio exome sequencing identified a novel de novo WASF1 missense variant leading to recurrent site substitution in a Chinese patient with developmental delay, microcephaly, and early-onset seizures: A mutational hotspot p.Trp161 and literature review.
Zhao A; Zhou R; Gu Q; Liu M; Zhang B; Huang J; Yang B; Yao R; Wang J; Lv H; Wang J; Shen Y; Wang H; Chen X
Clin Chim Acta; 2021 Dec; 523():10-18. PubMed ID: 34478686
[TBL] [Abstract][Full Text] [Related]
30. DDX3X Syndrome: Summary of Findings and Recommendations for Evaluation and Care.
Levy T; Siper PM; Lerman B; Halpern D; Zweifach J; Belani P; Thurm A; Kleefstra T; Berry-Kravis E; Buxbaum JD; Grice DE
Pediatr Neurol; 2023 Jan; 138():87-94. PubMed ID: 36434914
[TBL] [Abstract][Full Text] [Related]
31. Molecular and cellular basis of hyperassembly and protein aggregation driven by a rare pathogenic mutation in DDX3X.
de Castro Fonseca M; de Oliveira JF; Araujo BHS; Canateli C; do Prado PFV; Amorim Neto DP; Bosque BP; Rodrigues PV; de Godoy JVP; Tostes K; Filho HVR; Nascimento AFZ; Saito A; Tonoli CCC; Batista FAH; de Oliveira PSL; Figueira AC; Souza da Costa S; Krepischi ACV; Rosenberg C; Westfahl H; da Silva AJR; Franchini KG
iScience; 2021 Aug; 24(8):102841. PubMed ID: 34381968
[TBL] [Abstract][Full Text] [Related]
32. A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report.
Lippa NC; Barua S; Aggarwal V; Pereira E; Bain JM
BMC Neurol; 2021 Sep; 21(1):358. PubMed ID: 34530748
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. Novel PAK3 gene missense variant associated with two Chinese siblings with intellectual disability: a case report.
Qian Y; Wu B; Lu Y; Zhou W; Wang S; Wang H
BMC Med Genet; 2020 Feb; 21(1):31. PubMed ID: 32050918
[TBL] [Abstract][Full Text] [Related]
35. Case Report:
Sun Y; Qian Y; Sun HX; Chen M; Luo Y; Xu X; Yan K; Wang L; Hu J; Dong M
Front Genet; 2022; 13():999442. PubMed ID: 36299587
[TBL] [Abstract][Full Text] [Related]
36. Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene.
Barrie ES; Cottrell CE; Gastier-Foster J; Hickey SE; Patel AD; Santoro SL; Alfaro MP
Eur J Med Genet; 2020 Mar; 63(3):103735. PubMed ID: 31415821
[TBL] [Abstract][Full Text] [Related]
37. Trio-WES reveals a novel de novo missense mutation of KMT2A in a Chinese patient with Wiedemann-Steiner syndrome: A case report.
Wang X; Zhang G; Lu Y; Luo X; Wu W
Mol Genet Genomic Med; 2021 Jan; 9(1):e1533. PubMed ID: 33325147
[TBL] [Abstract][Full Text] [Related]
38. Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
Kolanczyk M; Krawitz P; Hecht J; Hupalowska A; Miaczynska M; Marschner K; Schlack C; Emmerich D; Kobus K; Kornak U; Robinson PN; Plecko B; Grangl G; Uhrig S; Mundlos S; Horn D
Eur J Hum Genet; 2015 May; 23(5):633-8. PubMed ID: 24916641
[TBL] [Abstract][Full Text] [Related]
39. Further delineation of DDX3X syndrome.
Chanes NM; Wong J; Lacassie Y
Clin Dysmorphol; 2019 Jul; 28(3):151-153. PubMed ID: 30817323
[No Abstract] [Full Text] [Related]
40. Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.
Baasch AL; Hüning I; Gilissen C; Klepper J; Veltman JA; Gillessen-Kaesbach G; Hoischen A; Lohmann K
Epilepsia; 2014 Apr; 55(4):e25-9. PubMed ID: 24579881
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]