281 related articles for article (PubMed ID: 25804398)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
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. 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]
11. 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]
12. 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]
13. 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]
14. 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]
15. 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]
16. 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]
17. 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]
18. 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]
19. Alkaptonuria in Slovakia: thirty-two years of research on phenotype and genotype.
Srsen S; Müller CR; Fregin A; Srsnova K
Mol Genet Metab; 2002 Apr; 75(4):353-9. PubMed ID: 12051967
[TBL] [Abstract][Full Text] [Related]
20. Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database.
Zatkova A; Sedlackova T; Radvansky J; Polakova H; Nemethova M; Aquaron R; Dursun I; Usher JL; Kadasi L
JIMD Rep; 2012; 4():55-65. PubMed ID: 23430897
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
