These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
105 related articles for article (PubMed ID: 35668413)
41. Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability. Musante L; Püttmann L; Kahrizi K; Garshasbi M; Hu H; Stehr H; Lipkowitz B; Otto S; Jensen LR; Tzschach A; Jamali P; Wienker T; Najmabadi H; Ropers HH; Kuss AW Hum Mutat; 2017 Jun; 38(6):621-636. PubMed ID: 28236339 [TBL] [Abstract][Full Text] [Related]
42. Infantile fever-triggered acute liver failure caused by novel neuroblastoma amplified sequence mutations: a case report. Li W; Zhu Y; Guo Q; Wan C BMC Gastroenterol; 2020 Sep; 20(1):308. PubMed ID: 32957979 [TBL] [Abstract][Full Text] [Related]
43. Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency. Marten LM; Brinkert F; Smith DEC; Prokisch H; Hempel M; Santer R Mol Genet Metab Rep; 2020 Dec; 25():100681. PubMed ID: 33294374 [TBL] [Abstract][Full Text] [Related]
44. Genetic analysis and prenatal diagnosis in a Chinese with growth retardation, abnormal liver function, and microcephaly. Zhao P; Zhang L; Tan L; Luo S; Huang Y; Peng H; Cao J; He X Mol Genet Genomic Med; 2021 Sep; 9(9):e1751. PubMed ID: 34331832 [TBL] [Abstract][Full Text] [Related]
45. New evidence for association of recessive IARS gene mutations with hepatopathy, hypotonia, intellectual disability and growth retardation. Smigiel R; Biela M; Biernacka A; Stembalska A; Sasiadek M; Kosinska J; Rydzanicz M; Ploski R Clin Genet; 2017 Dec; 92(6):671-673. PubMed ID: 29052218 [No Abstract] [Full Text] [Related]
46. Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease. McMillan HJ; Humphreys P; Smith A; Schwartzentruber J; Chakraborty P; Bulman DE; Beaulieu CL; ; Majewski J; Boycott KM; Geraghty MT J Child Neurol; 2015 Jul; 30(8):1037-43. PubMed ID: 25330800 [TBL] [Abstract][Full Text] [Related]
47. Variant in SCYL1 gene causes aberrant splicing in a family with cerebellar ataxia, recurrent episodes of liver failure, and growth retardation. Shohet A; Cohen L; Haguel D; Mozer Y; Shomron N; Tzur S; Bazak L; Basel Salmon L; Krause I Eur J Hum Genet; 2019 Feb; 27(2):263-268. PubMed ID: 30258122 [TBL] [Abstract][Full Text] [Related]
48. Clinical and molecular genetic characterization of two patients with mutations in the phosphoglucomutase 1 (PGM1) gene. Ding Y; Li N; Chang G; Li J; Yao R; Shen Y; Wang J; Huang X; Wang X J Pediatr Endocrinol Metab; 2018 Jul; 31(7):781-788. PubMed ID: 29858906 [TBL] [Abstract][Full Text] [Related]
49. Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease. McMillan HJ; Schwartzentruber J; Smith A; Lee S; Chakraborty P; Bulman DE; Beaulieu CL; Majewski J; Boycott KM; Geraghty MT BMC Med Genet; 2014 Mar; 15():36. PubMed ID: 24669931 [TBL] [Abstract][Full Text] [Related]
50. Severe hypotonia and postnatal growth impairment in a girl with a missense mutation in COL1A1: Implication of expanded phenotypic spectrum of type I collagenopathy. Lee JS; Seo J; Cho A; Lim BC; Choi M; Kim JW; Kim OH; Cho TJ; Chae JH Brain Dev; 2017 Oct; 39(9):799-803. PubMed ID: 28668235 [TBL] [Abstract][Full Text] [Related]
51. Compound Heterozygosity for a Novel Frameshift Variant Causing Fatal Infantile Liver Failure and Genotype-Phenotype Correlation of Sriwattanapong K; Rojnueangnit K; Theerapanon T; Srichomthong C; Porntaveetus T; Shotelersuk V Int J Neonatal Screen; 2021 Feb; 7(1):. PubMed ID: 33562887 [TBL] [Abstract][Full Text] [Related]
52. Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. Zhang X; Ling J; Barcia G; Jing L; Wu J; Barry BJ; Mochida GH; Hill RS; Weimer JM; Stein Q; Poduri A; Partlow JN; Ville D; Dulac O; Yu TW; Lam AT; Servattalab S; Rodriguez J; Boddaert N; Munnich A; Colleaux L; Zon LI; Söll D; Walsh CA; Nabbout R Am J Hum Genet; 2014 Apr; 94(4):547-58. PubMed ID: 24656866 [TBL] [Abstract][Full Text] [Related]
54. [Early infantile epileptic encephalopathy caused by PACS2 gene variation: three cases report and literature review]. Wu MJ; Hu CH; Ma JH; Hu JS; Liu ZS; Sun D Zhonghua Er Ke Za Zhi; 2021 Jul; 59(7):594-599. PubMed ID: 34405643 [No Abstract] [Full Text] [Related]
55. Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities. Weterman MAJ; Kuo M; Kenter SB; Gordillo S; Karjosukarso DW; Takase R; Bronk M; Oprescu S; van Ruissen F; Witteveen RJW; Bienfait HME; Breuning M; Verhamme C; Hou YM; de Visser M; Antonellis A; Baas F Hum Mol Genet; 2018 Dec; 27(23):4036-4050. PubMed ID: 30124830 [TBL] [Abstract][Full Text] [Related]
56. A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene. Nowaczyk MJ; Huang L; Tarnopolsky M; Schwartzentruber J; Majewski J; Bulman DE; ; Hartley T; Boycott KM Am J Med Genet A; 2017 Jan; 173(1):126-134. PubMed ID: 27633801 [TBL] [Abstract][Full Text] [Related]
57. Systematic expression profiling of neuropathy-related aminoacyl-tRNA synthetases in zebrafish during development. Giong HK; Lee JS Biochem Biophys Res Commun; 2022 Jan; 587():92-98. PubMed ID: 34872004 [TBL] [Abstract][Full Text] [Related]
59. Missense mutation in Ding FJ; Lyu GZ; Zhang VW; Jin H World J Clin Cases; 2021 Oct; 9(30):9302-9309. PubMed ID: 34786417 [TBL] [Abstract][Full Text] [Related]
60. Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms. Zhao S; Luo Z; Xiao Z; Li L; Zhao R; Yang Y; Zhong Y BMC Med Genet; 2019 Nov; 20(1):187. PubMed ID: 31752730 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]