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    Results: 1 to 20 of 136

    1.

    Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene.

    Felbor U, Mutsch Y, Grehn F, Müller CR, Kress W.

    Br J Ophthalmol. 1999 Jun;83(6):680-3.PMID: 10340975 [PubMed - indexed for MEDLINE]Related articlesFree article

    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]Related articlesFree article

    3.

    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]Related articles

    4.

    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]Related articlesFree article

    5.

    Alkaptonuria, ochronosis, and ochronotic arthropathy.

    Mannoni A, Selvi E, Lorenzini S, Giorgi M, Airó P, Cammelli D, Andreotti L, Marcolongo R, Porfirio B.

    Semin Arthritis Rheum. 2004 Feb;33(4):239-48.PMID: 14978662 [PubMed - indexed for MEDLINE]Related articles

    6.

    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]Related articlesFree article

    7.

    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]Related articles

    8.

    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]Related articles

    9.

    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]Related articles

    10.

    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]Related articlesFree article

    11.

    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]Related articles

    12.

    Natural history of alkaptonuria.

    Phornphutkul C, Introne WJ, Perry MB, Bernardini I, Murphey MD, Fitzpatrick DL, Anderson PD, Huizing M, Anikster Y, Gerber LH, Gahl WA.

    N Engl J Med. 2002 Dec 26;347(26):2111-21.PMID: 12501223 [PubMed - indexed for MEDLINE]Related articlesFree article

    13.

    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]Related articlesFree article

    14.

    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]Related articlesFree article

    15.

    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]Related articles

    16.

    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]Related articles

    17.

    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]Related articles

    18.

    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]Related articlesFree article

    19.

    Sequence analysis of the homogentisate 1,2 dioxygenase gene in a family affected by alkaptonuria.

    Walter K, Gaa A, Schaefer HE.

    J Med Genet. 1999 Aug;36(8):645-6. No abstract available. PMID: 10465119 [PubMed - indexed for MEDLINE]Related articlesFree article

    20.

    Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene.

    Porfirio B, Chiarelli I, Graziano C, Mannoni A, Morrone A, Zammarchi E, De Bernabé DB, De Córdoba SR.

    J Med Genet. 2000 Apr;37(4):309-12. No abstract available. PMID: 10819641 [PubMed - indexed for MEDLINE]Related articlesFree article

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