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Items: 1 to 20 of 142

1.

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. doi: 10.1002/humu.21120.

2.

An update on molecular genetics of Alkaptonuria (AKU).

Zatkova A.

J Inherit Metab Dis. 2011 Dec;34(6):1127-36. doi: 10.1007/s10545-011-9363-z. Epub 2011 Jul 1.

PMID:
21720873
3.

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. doi: 10.1515/jpem-2014-0122.

PMID:
25153563
4.

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. doi: 10.1038/ejhg.2015.60. Epub 2015 Mar 25.

5.

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. doi: 10.1007/s10545-008-0994-7. Epub 2008 Dec 22.

PMID:
19096913
6.

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.

PMID:
21822197
7.

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 15;518(2):467-9. doi: 10.1016/j.gene.2013.01.020. Epub 2013 Jan 24.

PMID:
23353776
8.

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. doi: 10.1111/ahg.12055. Epub 2014 Feb 12.

9.

Novel mutations in the homogentisate 1,2 dioxygenase gene identified in Jordanian patients with alkaptonuria.

Al-sbou M.

Rheumatol Int. 2012 Jun;32(6):1741-6. doi: 10.1007/s00296-011-1868-0. Epub 2011 Mar 25.

PMID:
21437689
10.

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. doi: 10.1016/j.cca.2009.03.032. Epub 2009 Mar 21.

PMID:
19306858
11.

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. doi: 10.1007/8904_2014_380. Epub 2015 Feb 15.

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 Sep 18;9(9):e106948. doi: 10.1371/journal.pone.0106948. eCollection 2014.

13.

R58fs mutation in the HGD gene in a family with alkaptonuria in the UAE.

Abdulrazzaq YM, Ibrahim A, Al-Khayat AI, Nagelkerke N, Ali BR.

Ann Hum Genet. 2009 Jan;73(1):125-30. doi: 10.1111/j.1469-1809.2008.00485.x. Epub 2008 Oct 20.

14.

Ashy ears.

Rallis E, Kintzoglou S.

ScientificWorldJournal. 2010 Aug 3;10:1530-1. doi: 10.1100/tsw.2010.147.

15.

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. doi: 10.1007/8904_2011_68. Epub 2011 Oct 20.

16.

Ochronotic rheumatism in Algeria: clinical, radiological, biological and molecular studies--a case study of 14 patients in 11 families.

Ladjouze-Rezig A, Rodriguez de Cordoba S, Aquaron R.

Joint Bone Spine. 2006 May;73(3):284-92. Epub 2005 Jul 7.

PMID:
16085442
17.

Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients.

Beltrán-Valero de Bernabé D, Granadino B, Chiarelli I, Porfirio B, Mayatepek E, Aquaron R, Moore MM, Festen JJ, Sanmartí R, Peñalva MA, de Córdoba SR.

Am J Hum Genet. 1998 Apr;62(4):776-84.

18.

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. doi: 10.1002/jcp.24018.

19.

Alkaptonuria: a very rare metabolic disorder.

Aquaron R.

Indian J Biochem Biophys. 2013 Oct;50(5):339-44. Review.

PMID:
24772955
20.

aku, a mutation of the mouse homologous to human alkaptonuria, maps to chromosome 16.

Montagutelli X, Lalouette A, Coudé M, Kamoun P, Forest M, Guénet JL.

Genomics. 1994 Jan 1;19(1):9-11.

PMID:
8188247

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