168 related articles for article (PubMed ID: 25847581)
1. ELP2 is a novel gene implicated in neurodevelopmental disabilities.
Cohen JS; Srivastava S; Farwell KD; Lu HM; Zeng W; Lu H; Chao EC; Fatemi A
Am J Med Genet A; 2015 Jun; 167(6):1391-5. PubMed ID: 25847581
[TBL] [Abstract][Full Text] [Related]
2. Clinical and molecular findings in a Turkish family with an ultra-rare condition, ELP2-related neurodevelopmental disorder.
Dogan M; Teralı K; Eroz R; Demirci H; Kocabay K
Mol Biol Rep; 2021 Jan; 48(1):701-708. PubMed ID: 33393008
[TBL] [Abstract][Full Text] [Related]
3. A Novel
Turkyilmaz A; Sager G
Mol Syndromol; 2020 Dec; 11(5-6):315-319. PubMed ID: 33510603
[TBL] [Abstract][Full Text] [Related]
4. ELP2 compound heterozygous variants associated with cortico-cerebellar atrophy, nodular heterotopia and epilepsy: Phenotype expansion and review of the literature.
Russo A; Forest C; Leone GJ; Iascone M; Tenconi R; Maffei M; Cersosimo A; Cordelli DM; Suppiej A
Eur J Med Genet; 2021 Dec; 64(12):104361. PubMed ID: 34653680
[TBL] [Abstract][Full Text] [Related]
5. Novel LINS1 missense mutation in a family with non-syndromic intellectual disability.
Sheth J; Ranjan G; Shah K; Bhavsar R; Sheth F
Am J Med Genet A; 2017 Apr; 173(4):1041-1046. PubMed ID: 28181389
[TBL] [Abstract][Full Text] [Related]
6. MED23-associated intellectual disability in a non-consanguineous family.
Trehan A; Brady JM; Maduro V; Bone WP; Huang Y; Golas GA; Kane MS; Lee PR; Thurm A; Gropman AL; Paul SM; Vezina G; Markello TC; Gahl WA; Boerkoel CF; Tifft CJ
Am J Med Genet A; 2015 Jun; 167(6):1374-80. PubMed ID: 25845469
[TBL] [Abstract][Full Text] [Related]
7. Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype.
Kojic M; Gawda T; Gaik M; Begg A; Salerno-Kochan A; Kurniawan ND; Jones A; Drożdżyk K; Kościelniak A; Chramiec-Głąbik A; Hediyeh-Zadeh S; Kasherman M; Shim WJ; Sinniah E; Genovesi LA; Abrahamsen RK; Fenger CD; Madsen CG; Cohen JS; Fatemi A; Stark Z; Lunke S; Lee J; Hansen JK; Boxill MF; Keren B; Marey I; Saenz MS; Brown K; Alexander SA; Mureev S; Batzilla A; Davis MJ; Piper M; Bodén M; Burne THJ; Palpant NJ; Møller RS; Glatt S; Wainwright BJ
Nat Commun; 2021 May; 12(1):2678. PubMed ID: 33976153
[TBL] [Abstract][Full Text] [Related]
8. A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation.
Horn D; Prescott T; Houge G; Brække K; Rosendahl K; Nishimura G; FitzPatrick DR; Spranger J
Eur J Med Genet; 2015 Aug; 58(8):387-91. PubMed ID: 26116559
[TBL] [Abstract][Full Text] [Related]
9. Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.
Sollis E; Graham SA; Vino A; Froehlich H; Vreeburg M; Dimitropoulou D; Gilissen C; Pfundt R; Rappold GA; Brunner HG; Deriziotis P; Fisher SE
Hum Mol Genet; 2016 Feb; 25(3):546-57. PubMed ID: 26647308
[TBL] [Abstract][Full Text] [Related]
10. A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype.
Kojic M; Abbassi NEH; Lin TY; Jones A; Wakeling EL; Clement E; Nakou V; Singleton M; Dobosz D; Kaliakatsos M; Glatt S; Wainwright BJ
J Hum Genet; 2023 Jul; 68(7):445-453. PubMed ID: 36864284
[TBL] [Abstract][Full Text] [Related]
11. Epilepsy or neurodevelopmental disorders are associated with homozygous and pathogenic
Khalilov D; Haryanyan G; Salman B; Yucesan E; Ugur Iseri S; Bebek N
Neurocase; 2022 Dec; 28(6):488-492. PubMed ID: 36787709
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Novel Compound Heterozygous Mutation in
Alvarez-Mora MI; Corominas J; Gilissen C; Sanchez A; Madrigal I; Rodriguez-Revenga L
Genes (Basel); 2021 Apr; 12(4):. PubMed ID: 33921338
[TBL] [Abstract][Full Text] [Related]
14. Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature.
Assoum M; Bruel AL; Crenshaw ML; Delanne J; Wentzensen IM; McWalter K; Dent KM; Vitobello A; Kuentz P; Thevenon J; Duffourd Y; Thauvin-Robinet C; Faivre L
Am J Med Genet A; 2020 Apr; 182(4):792-797. PubMed ID: 31953988
[TBL] [Abstract][Full Text] [Related]
15. Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures.
Platzer K; Hüning I; Obieglo C; Schwarzmayr T; Gabriel R; Strom TM; Gillessen-Kaesbach G; Kaiser FJ
Am J Med Genet A; 2014 Aug; 164A(8):1976-80. PubMed ID: 24798461
[TBL] [Abstract][Full Text] [Related]
16. The Elp2 subunit is essential for elongator complex assembly and functional regulation.
Dong C; Lin Z; Diao W; Li D; Chu X; Wang Z; Zhou H; Xie Z; Shen Y; Long J
Structure; 2015 Jun; 23(6):1078-86. PubMed ID: 25960406
[TBL] [Abstract][Full Text] [Related]
17. HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability.
Isrie M; Kalscheuer VM; Holvoet M; Fieremans N; Van Esch H; Devriendt K
Eur J Med Genet; 2013 Jul; 56(7):379-82. PubMed ID: 23721686
[TBL] [Abstract][Full Text] [Related]
18. A Novel Single-Nucleotide Deletion (c.1020delA) in NSUN2 Causes Intellectual Disability in an Emirati Child.
Komara M; Al-Shamsi AM; Ben-Salem S; Ali BR; Al-Gazali L
J Mol Neurosci; 2015 Nov; 57(3):393-9. PubMed ID: 26055038
[TBL] [Abstract][Full Text] [Related]
19. A missense mutation in the
Sheereen A; Alaamery M; Bawazeer S; Al Yafee Y; Massadeh S; Eyaid W
J Med Genet; 2017 Apr; 54(4):236-240. PubMed ID: 28143899
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]