73 related articles for article (PubMed ID: 32524323)
21. Case Report: Aicardi-Goutières Syndrome Caused by Novel TREX1 Variants.
Wu D; Fang L; Huang T; Ying S
Front Pediatr; 2021; 9():634281. PubMed ID: 33996686
[TBL] [Abstract][Full Text] [Related]
22. Type I interferonopathies with novel compound heterozygous TREX1 mutations in two siblings with different symptoms responded to tofacitinib.
Zhang S; Song J; Yang Y; Miao H; Yang L; Liu Y; Zhang X; Liu Y; Wang T
Pediatr Rheumatol Online J; 2021 Jan; 19(1):1. PubMed ID: 33407657
[TBL] [Abstract][Full Text] [Related]
23. The genetic structure of the Turkish population reveals high levels of variation and admixture.
Kars ME; Başak AN; Onat OE; Bilguvar K; Choi J; Itan Y; Çağlar C; Palvadeau R; Casanova JL; Cooper DN; Stenson PD; Yavuz A; Buluş H; Günel M; Friedman JM; Özçelik T
Proc Natl Acad Sci U S A; 2021 Sep; 118(36):. PubMed ID: 34426522
[TBL] [Abstract][Full Text] [Related]
24. Clinical features and underlying genetic causes in neonatal encephalopathy: A large cohort study.
Yang L; Chen X; Liu X; Dong X; Ye C; Deng D; Lu Y; Lin Y; Zhou W
Clin Genet; 2020 Oct; 98(4):365-373. PubMed ID: 32712949
[TBL] [Abstract][Full Text] [Related]
25. Analysis of clinical characteristics of children with Aicardi-Goutieres syndrome in China.
Wang W; Wang W; He TY; Zou LP; Li WD; Yu ZX; Ma MS; Yang J; Song HM
World J Pediatr; 2022 Jul; 18(7):490-497. PubMed ID: 35551623
[TBL] [Abstract][Full Text] [Related]
26. A rare case of bilateral vitreoretinopathy of Aicardi syndrome.
Yu-Chuan Kang E; Chong YJ; Lien R; Wu WC
Am J Ophthalmol Case Rep; 2022 Jun; 26():101467. PubMed ID: 35345580
[TBL] [Abstract][Full Text] [Related]
27. Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder.
Bender C; Woo EG; Guan B; Ullah E; Feng E; Turriff A; Tumminia SJ; Sieving PA; Cukras CA; Hufnagel RB
Genes (Basel); 2022 Apr; 13(4):. PubMed ID: 35456481
[TBL] [Abstract][Full Text] [Related]
28. Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau JFT; Yu MHC; Chui MMC; Yeung CCW; Kwok AWC; Zhuang X; Lee R; Fung JLF; Lee M; Mak CCY; Ng NYT; Chung CCY; Chan MCY; Tsang MHY; Chan JCK; Chan KYK; Kan ASY; Chung PHY; Yang W; Lee SL; Chan GCF; Tam PKH; Lau YL; Yeung KS; Chung BHY; Tang CSM
NPJ Genom Med; 2022 Mar; 7(1):23. PubMed ID: 35314707
[TBL] [Abstract][Full Text] [Related]
29. Glucose-6-Phosphate dehydrogenase deficiency associated hemolysis in a cohort of new onset type 1 diabetes children in Guangdong province, China.
Xu A; Jiang M; Zhang W; Lin Y; Shao Y; Mei H; Cheng J; Liang C; Li C; Li X; Liu L
Diabetol Metab Syndr; 2022 Mar; 14(1):43. PubMed ID: 35313968
[TBL] [Abstract][Full Text] [Related]
30. Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype-phenotype correlations.
Smogavec M; Gerykova Bujalkova M; Lehner R; Neesen J; Behunova J; Yerlikaya-Schatten G; Reischer T; Altmann R; Weis D; Duba HC; Laccone F
Eur J Hum Genet; 2022 Apr; 30(4):428-438. PubMed ID: 34974531
[TBL] [Abstract][Full Text] [Related]
31. Clinical features and genetic spectrum of NMNAT1-associated retinal degeneration.
Yi Z; Li S; Wang S; Xiao X; Sun W; Zhang Q
Eye (Lond); 2022 Dec; 36(12):2279-2285. PubMed ID: 34837036
[TBL] [Abstract][Full Text] [Related]
32. Clinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population.
Kousal B; Hlavata L; Vlaskova H; Dvorakova L; Brichova M; Dubska Z; Langrova H; Vincent AL; Dudakova L; Liskova P
Genes (Basel); 2021 Nov; 12(11):. PubMed ID: 34828422
[TBL] [Abstract][Full Text] [Related]
33. Molecular diagnosis based on comprehensive genetic testing in 800 Chinese families with non-syndromic inherited retinal dystrophies.
Liu X; Tao T; Zhao L; Li G; Yang L
Clin Exp Ophthalmol; 2021 Jan; 49(1):46-59. PubMed ID: 33090715
[TBL] [Abstract][Full Text] [Related]
34. Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late.
Minardi R; Licchetta L; Baroni MC; Pippucci T; Stipa C; Mostacci B; Severi G; Toni F; Bergonzini L; Carelli V; Seri M; Tinuper P; Bisulli F
Clin Genet; 2020 Nov; 98(5):477-485. PubMed ID: 32725632
[TBL] [Abstract][Full Text] [Related]
35. Two frequent missense mutations in Pendred syndrome.
Van Hauwe P; Everett LA; Coucke P; Scott DA; Kraft ML; Ris-Stalpers C; Bolder C; Otten B; de Vijlder JJ; Dietrich NL; Ramesh A; Srisailapathy SC; Parving A; Cremers CW; Willems PJ; Smith RJ; Green ED; Van Camp G
Hum Mol Genet; 1998 Jul; 7(7):1099-104. PubMed ID: 9618166
[TBL] [Abstract][Full Text] [Related]
36. A new abnormal fetal hemoglobin, Hb FM-Osaka (alpha 2 gamma 2 63His replaced by Tyr).
Hayashi A; Fujita T; Fujimura M; Titani K
Hemoglobin; 1980; 4(3-4):447-8. PubMed ID: 6158500
[No Abstract] [Full Text] [Related]
37. A case of Aicardi-Goutières syndrome caused by TREX1 gene mutation.
Chenhan Z; Jun S; Yang D; Linliang Y; Xiaowen G; Chunya J; Xuedong D
BMC Pregnancy Childbirth; 2023 Feb; 23(1):124. PubMed ID: 36814213
[TBL] [Abstract][Full Text] [Related]
38. TREX1 cytosolic DNA degradation correlates with autoimmune disease and cancer immunity.
Fang L; Ying S; Xu X; Wu D
Clin Exp Immunol; 2023 Mar; 211(3):193-207. PubMed ID: 36745566
[TBL] [Abstract][Full Text] [Related]
39. Early arteriopathy in Aicardi-Goutières syndrome 5. Case report and review of literature.
Markovic I; Jocic-Jakubi B; Milenkovic Z
Neuroradiol J; 2023 Dec; 36(6):740-745. PubMed ID: 36722173
[TBL] [Abstract][Full Text] [Related]
40. Next-Generation Sequencing in the Assessment of the Transcriptomic Landscape of DNA Damage Repair Genes in Abdominal Aortic Aneurysm, Chronic Venous Disease and Lower Extremity Artery Disease.
Ruszel KP; Zalewski DP; Stępniewski A; Gałkowski D; Bogucki J; Feldo M; Płachno BJ; Kocki J; Bogucka-Kocka A
Int J Mol Sci; 2022 Dec; 24(1):. PubMed ID: 36614026
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]