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.
162 related articles for article (PubMed ID: 34686677)
1. A novel deep intronic variant strongly associates with Alkaptonuria. Lai CY; Tsai IJ; Chiu PC; Ascher DB; Chien YH; Huang YH; Lin YL; Hwu WL; Lee NC NPJ Genom Med; 2021 Oct; 6(1):89. PubMed ID: 34686677 [TBL] [Abstract][Full Text] [Related]
2. Two novel mutations in the homogentisate-1,2-dioxygenase gene identified in Chinese Han Child with Alkaptonuria. Li H; Zhang K; Xu Q; Ma L; Lv X; Sun R J Pediatr Endocrinol Metab; 2015 Mar; 28(3-4):453-6. PubMed ID: 25153563 [TBL] [Abstract][Full Text] [Related]
3. Early-onset ocular ochronosis in a girl with alkaptonuria (AKU) and a novel mutation in homogentisate 1,2-dioxygenase (HGD). Gucev ZS; Slaveska N; Laban N; Danilovski D; Tasic V; Pop-Jordanova N; Zatkova A Prilozi; 2011; 32(1):305-11. PubMed ID: 21822197 [TBL] [Abstract][Full Text] [Related]
4. Variant Analysis of Alkaptonuria Families with Significant Founder Effect in Jordan. Khalil R; Ali D; Mwafi N; Alsaraireh A; Obeidat L; Albsoul E; Al Sbou' I Biomed Res Int; 2021; 2021():1515641. PubMed ID: 34235214 [TBL] [Abstract][Full Text] [Related]
6. A novel mutation in the homogentisate 1,2 dioxygenase gene identified in Chinese Hani pediatric patients with Alkaptonuria. Tao L; Deng C; Ma M; Zhang Y; Duan J; Li Y; Fang L; Zhou Y; He X; Wang Y; Wang M; Li L Clin Chim Acta; 2022 Jul; 532():164-171. PubMed ID: 35550814 [TBL] [Abstract][Full Text] [Related]
7. Homogentisate 1,2-dioxygenase (HGD) gene variants in young Egyptian patients with alkaptonuria. Abdelkhalek ZS; Mahmoud IG; Omair H; Abdulhay M; Elmonem MA Sci Rep; 2023 Sep; 13(1):14374. PubMed ID: 37658095 [TBL] [Abstract][Full Text] [Related]
8. Alkaptonuria in Turkey: Clinical and molecular characteristics of 66 patients. Kisa PT; Gunduz M; Dorum S; Uzun OU; Cakar NE; Yildirim GK; Erdol S; Hismi BO; Tugsal HY; Ucar U; Gorukmez O; Gulten ZA; Kucukcongar A; Bulbul S; Sari I; Arslan N Eur J Med Genet; 2021 May; 64(5):104197. PubMed ID: 33746036 [TBL] [Abstract][Full Text] [Related]
9. Three-generational alkaptonuria in a non-consanguineous family. Oexle K; Engel K; Tinschert S; Haas D; Lee-Kirsch MA J Inherit Metab Dis; 2008 Dec; 31 Suppl 2():S425-30. PubMed ID: 19096913 [TBL] [Abstract][Full Text] [Related]
10. Alkaptonuria in Russia: mutational spectrum and novel variants. Bychkov I; Kamenets E; Kurkina M; Rychkov G; Ilyushkina A; Filatova A; Guseva D; Baydakova G; Nekrasov A; Cheblokov A; Skoblov M; Zakharova E Eur J Med Genet; 2021 Apr; 64(4):104165. PubMed ID: 33621656 [TBL] [Abstract][Full Text] [Related]
11. First report of HGD mutations in a Chinese with alkaptonuria. Yang YJ; Guo JH; Chen WJ; Zhao R; Tang JS; Meng XH; Zhao L; Tu M; He XY; Wu LQ; Zhu YM Gene; 2013 Apr; 518(2):467-9. PubMed ID: 23353776 [TBL] [Abstract][Full Text] [Related]
12. First report of a deletion encompassing an entire exon in the homogentisate 1,2-dioxygenase gene causing alkaptonuria. Zouheir Habbal M; Bou-Assi T; Zhu J; Owen R; Chehab FF PLoS One; 2014; 9(9):e106948. PubMed ID: 25233259 [TBL] [Abstract][Full Text] [Related]
13. Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria. Vilboux T; Kayser M; Introne W; Suwannarat P; Bernardini I; Fischer R; O'Brien K; Kleta R; Huizing M; Gahl WA Hum Mutat; 2009 Dec; 30(12):1611-9. PubMed ID: 19862842 [TBL] [Abstract][Full Text] [Related]
14. Mutation screening of the HGD gene identifies a novel alkaptonuria mutation with significant founder effect and high prevalence. Sakthivel S; Zatkova A; Nemethova M; Surovy M; Kadasi L; Saravanan MP Ann Hum Genet; 2014 May; 78(3):155-64. PubMed ID: 24575791 [TBL] [Abstract][Full Text] [Related]
15. Breakpoints characterisation of the genomic deletions identified by MLPA in alkaptonuria patients. Soltysova A; Sekelska M; Zatkova A Eur J Hum Genet; 2023 Apr; 31(4):485-489. PubMed ID: 35110678 [TBL] [Abstract][Full Text] [Related]
16. Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations. Usher JL; Ascher DB; Pires DE; Milan AM; Blundell TL; Ranganath LR JIMD Rep; 2015; 24():3-11. PubMed ID: 25681086 [TBL] [Abstract][Full Text] [Related]