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Items: 1 to 20 of 21

1.

The nature of the defect in tyrosine metabolism in alcaptonuria.

LA DU BN, ZANNONI VG, LASTER L, SEEGMILLER JE.

J Biol Chem. 1958 Jan;230(1):251-60. No abstract available.

2.

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
3.

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.

4.

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
5.

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.

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.

7.

Allelic heterogeneity of alkaptonuria in Central Europe.

Müller CR, Fregin A, Srsen S, Srsnova K, Halliger-Keller B, Felbor U, Seemanova E, Kress W.

Eur J Hum Genet. 1999 Sep;7(6):645-51.

8.

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.

9.

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.

10.

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.

11.

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
12.

A novel point mutation associated with alkaptonuria.

Higashino K, Liu W, Ohkawa T, Yamamoto T, Fukui K, Ohno M, Imanishi H, Iwasaki A, Amuro Y, Hada T.

Clin Genet. 1998 Mar;53(3):228-9. No abstract available.

PMID:
9630082
13.

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.

14.

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
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
16.

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
17.
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19.

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.

Richard I, Broux O, Allamand V, Fougerousse F, Chiannilkulchai N, Bourg N, Brenguier L, Devaud C, Pasturaud P, Roudaut C, et al.

Cell. 1995 Apr 7;81(1):27-40.

20.

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