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Results: 1 to 20 of 179

1.

The molecular basis of alkaptonuria.

Fernández-Cañón JM, Granadino B, Beltrán-Valero de Bernabé D, Renedo M, Fernández-Ruiz E, Peñalva MA, Rodríguez de Córdoba S.

Nat Genet. 1996 Sep;14(1):19-24.

PMID:
8782815
[PubMed - indexed for MEDLINE]
2.

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.

PMID:
9529363
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Molecular diagnosis of alkaptonuria mutation by analysis of homogentisate 1,2 dioxygenase mRNA from urine and blood.

Ramos SM, Hernández M, Roces A, Larruga JM, González P, González AM, Pinto FM, Cabrera VM.

Am J Med Genet. 1998 Jun 30;78(2):192-4.

PMID:
9674916
[PubMed - indexed for MEDLINE]
4.

Structural and functional analysis of mutations in alkaptonuria.

Rodríguez JM, Timm DE, Titus GP, Beltrán-Valero De Bernabé D, Criado O, Mueller HA, Rodríguez De Córdoba S, Peñalva MA.

Hum Mol Genet. 2000 Sep 22;9(15):2341-50.

PMID:
11001939
[PubMed - indexed for MEDLINE]
Free Article
5.

The human homogentisate 1,2-dioxygenase (HGO) gene.

Granadino B, Beltrán-Valero de Bernabé D, Fernández-Cañón JM, Peñalva MA, Rodríguez de Córdoba S.

Genomics. 1997 Jul 15;43(2):115-22.

PMID:
9244427
[PubMed - indexed for MEDLINE]
6.

Molecular analyses of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58fs mutation originated from central Asia and was spread throughout Europe and Anatolia by human migrations.

Uyguner O, Goicoechea de Jorge E, Cefle A, Baykal T, Kayserili H, Cefle K, Demirkol M, Yuksel-Apak M, Rodriguez de Córdoba S, Wollnik B.

J Inherit Metab Dis. 2003;26(1):17-23.

PMID:
12872836
[PubMed - indexed for MEDLINE]
7.

The human gene for alkaptonuria (AKU) maps to chromosome 3q.

Janocha S, Wolz W, Srsen S, Srsnova K, Montagutelli X, Guénet JL, Grimm T, Kress W, Müller CR.

Genomics. 1994 Jan 1;19(1):5-8.

PMID:
8188241
[PubMed - indexed for MEDLINE]
8.

Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO).

Beltrán-Valero de Bernabé D, Jimenez FJ, Aquaron R, Rodríguez de Córdoba S.

Am J Hum Genet. 1999 May;64(5):1316-22.

PMID:
10205262
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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
[PubMed - indexed for MEDLINE]
10.

Cloning of the homogentisate 1,2-dioxygenase gene, the key enzyme of alkaptonuria in mouse.

Schmidt SR, Gehrig A, Koehler MR, Schmid M, Müller CR, Kress W.

Mamm Genome. 1997 Mar;8(3):168-71.

PMID:
9069115
[PubMed - indexed for MEDLINE]
11.

Rapid detection methods for five HGO gene mutations causing alkaptonuria.

Zatkova A, Chmelikova A, Polakova H, Ferakova E, Kadasi L.

Clin Genet. 2003 Feb;63(2):145-9.

PMID:
12630963
[PubMed - indexed for MEDLINE]
12.

Crystal structure of human homogentisate dioxygenase.

Titus GP, Mueller HA, Burgner J, Rodríguez De Córdoba S, Peñalva MA, Timm DE.

Nat Struct Biol. 2000 Jul;7(7):542-6.

PMID:
10876237
[PubMed - indexed for MEDLINE]
13.

Mutational analysis of the HGO gene in Finnish alkaptonuria patients.

Beltrán-Valero de Bernabé D, Peterson P, Luopajärvi K, Matintalo P, Alho A, Konttinen Y, Krohn K, Rodríguez de Córdoba S, Ranki A.

J Med Genet. 1999 Dec;36(12):922-3.

PMID:
10594001
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots.

Zatková A, de Bernabé DB, Poláková H, Zvarík M, Feráková E, Bosák V, Ferák V, Kádasi L, de Córdoba SR.

Am J Hum Genet. 2000 Nov;67(5):1333-9. Epub 2000 Oct 2. Erratum in: Am J Hum Genet 2001 May;68(5):1313.

PMID:
11017803
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Molecular defects in alkaptonuria.

Gehrig A, Schmidt SR, Müller CR, Srsen S, Srsnova K, Kress W.

Cytogenet Cell Genet. 1997;76(1-2):14-6.

PMID:
9154114
[PubMed - indexed for MEDLINE]
16.

Alkaptonuria in the Dominican Republic: identification of the founder AKU mutation and further evidence of mutation hot spots in the HGO gene.

Goicoechea De Jorge E, Lorda I, Gallardo ME, Pérez B, Peréz De Ferrán C, Mendoza H, Rodríguez De Córdoba S.

J Med Genet. 2002 Jul;39(7):E40. No abstract available.

PMID:
12114497
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Molecular characterization of a gene encoding a homogentisate dioxygenase from Aspergillus nidulans and identification of its human and plant homologues.

Fernández-Cañón JM, Peñalva MA.

J Biol Chem. 1995 Sep 8;270(36):21199-205.

PMID:
7673153
[PubMed - indexed for MEDLINE]
Free Article
18.

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. Review.

PMID:
12051967
[PubMed - indexed for MEDLINE]
19.

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
[PubMed - indexed for MEDLINE]
20.

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

Zatková A, Polaková H, Micutková L, Zvarík M, Bosák V, Feráková E, Matusek J, Ferák V, Kádasi L.

J Med Genet. 2000 Jul;37(7):539-42. No abstract available.

PMID:
10970188
[PubMed - indexed for MEDLINE]
Free PMC Article

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