338 related articles for article (PubMed ID: 21822197)
1. 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]
2. 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]
3. 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]
4. A novel missense HGD gene mutation, K57N, in a patient with alkaptonuria.
Grasko JM; Hooper AJ; Brown JW; McKnight CJ; Burnett JR
Clin Chim Acta; 2009 May; 403(1-2):254-6. PubMed ID: 19306858
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. An update on molecular genetics of Alkaptonuria (AKU).
Zatkova A
J Inherit Metab Dis; 2011 Dec; 34(6):1127-36. PubMed ID: 21720873
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy.
Nemethova M; Radvanszky J; Kadasi L; Ascher DB; Pires DE; Blundell TL; Porfirio B; Mannoni A; Santucci A; Milucci L; Sestini S; Biolcati G; Sorge F; Aurizi C; Aquaron R; Alsbou M; Lourenço CM; Ramadevi K; Ranganath LR; Gallagher JA; van Kan C; Hall AK; Olsson B; Sireau N; Ayoob H; Timmis OG; Sang KH; Genovese F; Imrich R; Rovensky J; Srinivasaraghavan R; Bharadwaj SK; Spiegel R; Zatkova A
Eur J Hum Genet; 2016 Jan; 24(1):66-72. PubMed ID: 25804398
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Alkaptonuria in Russia.
Soltysova A; Kuzin A; Samarkina E; Zatkova A
Eur J Hum Genet; 2022 Feb; 30(2):237-242. PubMed ID: 34504318
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Founder effects of the homogentisate 1,2-dioxygenase (HGD) gene in a gypsy population and mutation spectrum in the gene among alkaptonuria patients from India.
Danda S; Mohan S; Devaraj P; Dutta AK; Nampoothiri S; Yesodharan D; Phadke SR; Jalan AB; Thangaraj K; Verma IC; Danda D; Jebaraj I
Clin Rheumatol; 2020 Sep; 39(9):2743-2749. PubMed ID: 32212000
[TBL] [Abstract][Full Text] [Related]
15. Alkaptonuric Ochronosis.
Singh O; Muthukrishna Pandian R; Sudhakar Kekre N
Urology; 2017 Feb; 100():e3-e4. PubMed ID: 27816602
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Presentation of 14 alkaptonuria patients from Turkey.
Akbaba AI; Ozgül RK; Dursun A
J Pediatr Endocrinol Metab; 2020 Feb; 33(2):289-294. PubMed ID: 31927521
[TBL] [Abstract][Full Text] [Related]
18. Conditional targeting in mice reveals that hepatic homogentisate 1,2-dioxygenase activity is essential in reducing circulating homogentisic acid and for effective therapy in the genetic disease alkaptonuria.
Hughes JH; Liu K; Plagge A; Wilson PJM; Sutherland H; Norman BP; Hughes AT; Keenan CM; Milan AM; Sakai T; Ranganath LR; Gallagher JA; Bou-Gharios G
Hum Mol Genet; 2019 Dec; 28(23):3928-3939. PubMed ID: 31600782
[TBL] [Abstract][Full Text] [Related]
19. Homogentisate 1,2 dioxygenase is expressed in human osteoarticular cells: implications in alkaptonuria.
Laschi M; Tinti L; Braconi D; Millucci L; Ghezzi L; Amato L; Selvi E; Spreafico A; Bernardini G; Santucci A
J Cell Physiol; 2012 Sep; 227(9):3254-7. PubMed ID: 22105303
[TBL] [Abstract][Full Text] [Related]
20. Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU.
Ascher DB; Spiga O; Sekelska M; Pires DEV; Bernini A; Tiezzi M; Kralovicova J; Borovska I; Soltysova A; Olsson B; Galderisi S; Cicaloni V; Ranganath L; Santucci A; Zatkova A
Eur J Hum Genet; 2019 Jun; 27(6):888-902. PubMed ID: 30737480
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
