116 related articles for article (PubMed ID: 33510603)
21. Spastic Diplegia in a Haitian Girl with Angelman Syndrome.
Latchman K; Nieto-Moreno M; Alberola RL
J Pediatr Genet; 2020 Jun; 9(2):104-108. PubMed ID: 32341813
[TBL] [Abstract][Full Text] [Related]
22. A Novel LINS1 Truncating Mutation in Autosomal Recessive Nonsyndromic Intellectual Disability.
Muthusamy B; Bellad A; Prasad P; Bandari AK; Bhuvanalakshmi G; Kiragasur RM; Girimaj SC; Pandey A
Front Psychiatry; 2020; 11():354. PubMed ID: 32499722
[TBL] [Abstract][Full Text] [Related]
23. [A novel mutation in KCNB1 gene in a child with neuropsychiatric comorbidities with both intellectual disability and epilepsy and review of literature].
Miao P; Peng J; Chen C; Gai N; Yin F
Zhonghua Er Ke Za Zhi; 2017 Feb; 55(2):115-119. PubMed ID: 28173649
[No Abstract] [Full Text] [Related]
24. Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.
Evers C; Kaufmann L; Seitz A; Paramasivam N; Granzow M; Karch S; Fischer C; Hinderhofer K; Gdynia G; Elsässer M; Pinkert S; Schlesner M; Bartram CR; Moog U
Am J Med Genet A; 2016 Jun; 170(6):1502-9. PubMed ID: 27016154
[TBL] [Abstract][Full Text] [Related]
25. Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia.
Bettencourt C; Salpietro V; Efthymiou S; Chelban V; Hughes D; Pittman AM; Federoff M; Bourinaris T; Spilioti M; Deretzi G; Kalantzakou T; Houlden H; Singleton AB; Xiromerisiou G
Orphanet J Rare Dis; 2017 Nov; 12(1):172. PubMed ID: 29096665
[TBL] [Abstract][Full Text] [Related]
26. Dimerization of elongator protein 1 is essential for Elongator complex assembly.
Xu H; Lin Z; Li F; Diao W; Dong C; Zhou H; Xie X; Wang Z; Shen Y; Long J
Proc Natl Acad Sci U S A; 2015 Aug; 112(34):10697-702. PubMed ID: 26261306
[TBL] [Abstract][Full Text] [Related]
27. Novel Compound Heterozygous Mutations in the
Hnoonual A; Graidist P; Kritsaneepaiboon S; Limprasert P
Front Genet; 2019; 10():61. PubMed ID: 30853973
[TBL] [Abstract][Full Text] [Related]
28. Exome sequencing reveals a novel WDR45 frameshift mutation and inherited POLR3A heterozygous variants in a female with a complex phenotype and mixed brain MRI findings.
Khalifa M; Naffaa L
Eur J Med Genet; 2015 Aug; 58(8):381-6. PubMed ID: 26096995
[TBL] [Abstract][Full Text] [Related]
29. KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families.
Rudenskaya GE; Kadnikova VA; Ryzhkova OP; Bessonova LA; Dadali EL; Guseva DS; Markova TV; Khmelkova DN; Polyakov AV
BMC Neurol; 2020 Aug; 20(1):290. PubMed ID: 32746806
[TBL] [Abstract][Full Text] [Related]
30. Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.
Amos JS; Huang L; Thevenon J; Kariminedjad A; Beaulieu CL; Masurel-Paulet A; Najmabadi H; Fattahi Z; Beheshtian M; Tonekaboni SH; Tang S; Helbig KL; Alcaraz W; Rivière JB; Faivre L; Innes AM; Lebel RR; Boycott KM;
Clin Genet; 2017 Jan; 91(1):92-99. PubMed ID: 27102954
[TBL] [Abstract][Full Text] [Related]
31. Novel heterozygous compound TRMT5 mutations associated with combined oxidative phosphorylation deficiency 26 in a Chinese family: a case report.
Wu S; Li W; Bai Z; Huang S; Yang D; Chen H; Li Y; Liu Y; Lv H
BMC Pediatr; 2022 Feb; 22(1):74. PubMed ID: 35109800
[TBL] [Abstract][Full Text] [Related]
32. A de novo
Verhoeven WMA; Egger JIM; Jongbloed RE; van Putten MM; de Bruin-van Zandwijk M; Zwemer AS; Pfundt R; Willemsen MH
Int Med Case Rep J; 2020; 13():487-492. PubMed ID: 33116939
[TBL] [Abstract][Full Text] [Related]
33. Numerous BAF complex genes are mutated in Coffin-Siris syndrome.
Miyake N; Tsurusaki Y; Matsumoto N
Am J Med Genet C Semin Med Genet; 2014 Sep; 166C(3):257-61. PubMed ID: 25081545
[TBL] [Abstract][Full Text] [Related]
34. An early step in wobble uridine tRNA modification requires the Elongator complex.
Huang B; Johansson MJ; Byström AS
RNA; 2005 Apr; 11(4):424-36. PubMed ID: 15769872
[TBL] [Abstract][Full Text] [Related]
35. [Intellectual developmental disorder with cardiac arrhythmia syndrome in a family caused by GNB5 variation and literature review].
Mai JH; Ou ZH; Chen L; Duan J; Liao JX; Han CX
Zhonghua Er Ke Za Zhi; 2020 Oct; 58(10):833-837. PubMed ID: 32987464
[No Abstract] [Full Text] [Related]
36. Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.
Lee J; Jung SC; Hong YB; Yoo JH; Koo H; Lee JH; Hong HD; Kim SB; Chung KW; Choi BO
Mol Med Rep; 2016 Jul; 14(1):33-40. PubMed ID: 27150940
[TBL] [Abstract][Full Text] [Related]
37. New AP4B1 mutation in an African-American child associated with intellectual disability.
Lamichhane D
J Pediatr Genet; 2013 Dec; 2(4):191-5. PubMed ID: 27625858
[TBL] [Abstract][Full Text] [Related]
38. Novel Compound Heterozygous Mutations in TTI2 Cause Syndromic Intellectual Disability in a Chinese Family.
Wang R; Han S; Liu H; Khan A; Xiaerbati H; Yu X; Huang J; Zhang X
Front Genet; 2019; 10():1060. PubMed ID: 31737043
[TBL] [Abstract][Full Text] [Related]
39. Elongator complex: how many roles does it play?
Svejstrup JQ
Curr Opin Cell Biol; 2007 Jun; 19(3):331-6. PubMed ID: 17466506
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]