127 related articles for article (PubMed ID: 34533271)
21. EED-associated overgrowth in a second male patient.
Cohen AS; Gibson WT
J Hum Genet; 2016 Sep; 61(9):831-4. PubMed ID: 27193220
[TBL] [Abstract][Full Text] [Related]
22. CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability.
Enomoto Y; Tsurusaki Y; Yokoi T; Abe-Hatano C; Ida K; Naruto T; Mitsui J; Tsuji S; Morishita S; Kurosawa K
Eur J Med Genet; 2020 Jan; 63(1):103610. PubMed ID: 30602132
[TBL] [Abstract][Full Text] [Related]
23. EED-Targeted PROTACs Degrade EED, EZH2, and SUZ12 in the PRC2 Complex.
Hsu JH; Rasmusson T; Robinson J; Pachl F; Read J; Kawatkar S; O' Donovan DH; Bagal S; Code E; Rawlins P; Argyrou A; Tomlinson R; Gao N; Zhu X; Chiarparin E; Jacques K; Shen M; Woods H; Bednarski E; Wilson DM; Drew L; Castaldi MP; Fawell S; Bloecher A
Cell Chem Biol; 2020 Jan; 27(1):41-46.e17. PubMed ID: 31786184
[TBL] [Abstract][Full Text] [Related]
24. Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
Tatton-Brown K; Loveday C; Yost S; Clarke M; Ramsay E; Zachariou A; Elliott A; Wylie H; Ardissone A; Rittinger O; Stewart F; Temple IK; Cole T; ; Mahamdallie S; Seal S; Ruark E; Rahman N
Am J Hum Genet; 2017 May; 100(5):725-736. PubMed ID: 28475857
[TBL] [Abstract][Full Text] [Related]
25. Diagnostic exome sequencing identifies a heterozygous MBD5 frameshift mutation in a family with intellectual disability and epilepsy.
Han JY; Lee IG; Jang W; Kim M; Kim Y; Jang JH; Park J
Eur J Med Genet; 2017 Oct; 60(10):559-564. PubMed ID: 28807762
[TBL] [Abstract][Full Text] [Related]
26. A Novel X-Linked Variant of
Choi MH; Yang JO; Min JS; Lee JJ; Jun SY; Lee YJ; Yoon JY; Jeon SJ; Byeon I; Kang JW; Kim NS
Genet Test Mol Biomarkers; 2020 Jan; 24(1):54-58. PubMed ID: 31829726
[No Abstract] [Full Text] [Related]
27. EZH2 mutations and promoter hypermethylation in childhood acute lymphoblastic leukemia.
Schäfer V; Ernst J; Rinke J; Winkelmann N; Beck JF; Hochhaus A; Gruhn B; Ernst T
J Cancer Res Clin Oncol; 2016 Jul; 142(7):1641-50. PubMed ID: 27169594
[TBL] [Abstract][Full Text] [Related]
28. Overexpression of polycomb repressive complex 2 key components EZH2/SUZ12/EED as an unfavorable prognostic marker in cholangiocarcinoma.
Wasenang W; Puapairoj A; Settasatian C; Proungvitaya S; Limpaiboon T
Pathol Res Pract; 2019 Jul; 215(7):152451. PubMed ID: 31126817
[TBL] [Abstract][Full Text] [Related]
29. Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.
Moortgat S; Désir J; Benoit V; Boulanger S; Pendeville H; Nassogne MC; Lederer D; Maystadt I
Am J Med Genet A; 2016 Nov; 170(11):2927-2933. PubMed ID: 27333055
[TBL] [Abstract][Full Text] [Related]
30. Cohen syndrome and early-onset epileptic encephalopathy in male triplets: two disease-causing mutations in VPS13B and NAPB.
AbdelAleem A; Haddad N; Al-Ettribi G; Crunk A; Elsotouhy A
Neurogenetics; 2023 Apr; 24(2):103-112. PubMed ID: 36780047
[TBL] [Abstract][Full Text] [Related]
31. Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy.
Ewans LJ; Field M; Zhu Y; Turner G; Leffler M; Dinger ME; Cowley MJ; Buckley MF; Scheffer IE; Jackson MR; Roscioli T; Shoubridge C
Eur J Hum Genet; 2017 Jun; 25(6):763-767. PubMed ID: 28295038
[TBL] [Abstract][Full Text] [Related]
32. Identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness.
Jin HS; Lee JB; Kim K; Lee KY; Choi VN; Kim JS; Jeong SY; Yim SY
J Hum Genet; 2014 Dec; 59(12):643-7. PubMed ID: 25296583
[TBL] [Abstract][Full Text] [Related]
33. Characterization of interactions between the mammalian polycomb-group proteins Enx1/EZH2 and EED suggests the existence of different mammalian polycomb-group protein complexes.
Sewalt RG; van der Vlag J; Gunster MJ; Hamer KM; den Blaauwen JL; Satijn DP; Hendrix T; van Driel R; Otte AP
Mol Cell Biol; 1998 Jun; 18(6):3586-95. PubMed ID: 9584199
[TBL] [Abstract][Full Text] [Related]
34. A Noncanonical Function of Polycomb Repressive Complexes Promotes Human Cytomegalovirus Lytic DNA Replication and Serves as a Novel Cellular Target for Antiviral Intervention.
Svrlanska A; Reichel A; Schilling EM; Scherer M; Stamminger T; Reuter N
J Virol; 2019 May; 93(9):. PubMed ID: 30814291
[TBL] [Abstract][Full Text] [Related]
35. BRAT1 mutations present with a spectrum of clinical severity.
Srivastava S; Olson HE; Cohen JS; Gubbels CS; Lincoln S; Davis BT; Shahmirzadi L; Gupta S; Picker J; Yu TW; Miller DT; Soul JS; Poretti A; Naidu S
Am J Med Genet A; 2016 Sep; 170(9):2265-73. PubMed ID: 27282546
[TBL] [Abstract][Full Text] [Related]
36. A novel PCDH19 missense mutation, c.812G>A (p.Gly271Asp), identified using whole-exome sequencing in a Chinese family with epilepsy female restricted mental retardation syndrome.
Zhao X; Wang Y; Mei S; Kong X
Mol Genet Genomic Med; 2020 Jun; 8(6):e1234. PubMed ID: 32314541
[TBL] [Abstract][Full Text] [Related]
37. Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family.
Rafiullah R; Aslamkhan M; Paramasivam N; Thiel C; Mustafa G; Wiemann S; Schlesner M; Wade RC; Rappold GA; Berkel S
J Med Genet; 2016 Feb; 53(2):138-44. PubMed ID: 26566883
[TBL] [Abstract][Full Text] [Related]
38. Expression and clinicopathological significance of EED, SUZ12 and EZH2 mRNA in colorectal cancer.
Liu YL; Gao X; Jiang Y; Zhang G; Sun ZC; Cui BB; Yang YM
J Cancer Res Clin Oncol; 2015 Apr; 141(4):661-9. PubMed ID: 25326896
[TBL] [Abstract][Full Text] [Related]
39. Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report.
Alves RM; Uva P; Veiga MF; Oppo M; Zschaber FCR; Porcu G; Porto HP; Persico I; Onano S; Cuccuru G; Atzeni R; Vieira LCN; Pires MVA; Cucca F; Toralles MBP; Angius A; Crisponi L
BMC Med Genet; 2019 Jan; 20(1):16. PubMed ID: 30642272
[TBL] [Abstract][Full Text] [Related]
40. Compound heterozygous SZT2 mutations in two siblings with early-onset epilepsy, intellectual disability and macrocephaly.
Domingues FS; König E; Schwienbacher C; Volpato CB; Picard A; Cantaloni C; Mascalzoni D; Lackner P; Heimbach A; Hoffmann P; Stanzial F; Hicks AA; Parmeggiani L; Benedicenti F; Pellegrin S; Casara G; Pramstaller PP
Seizure; 2019 Mar; 66():81-85. PubMed ID: 30818181
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
