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Items: 1 to 20 of 378

1.

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
2.

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
3.

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
4.

Identification of the mutation in the alkaptonuria mouse model. Mutations in brief no. 216. Online.

Manning K, Fernández-Cañón JM, Montagutelli X, Grompe M.

Hum Mutat. 1999;13(2):171.

PMID:
10094559
5.

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.

6.

Alkaptonuria: tracked down to chromosome 3.

McKusick VA.

Genomics. 1994 Jan 1;19(1):3-4. No abstract available.

PMID:
8188236
7.

The genetic defect of the alkaptonuric mouse (aku).

Kress W, Schmidt SR, Halliger-Keller B, Montagutelli X, Müller CR.

Mamm Genome. 1999 Jan;10(1):68-70. No abstract available.

PMID:
9892737
8.

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
9.

A novel therapeutic trial of homogentisic aciduria in a murine model of alkaptonuria.

Suzuki Y, Oda K, Yoshikawa Y, Maeda Y, Suzuki T.

J Hum Genet. 1999;44(2):79-84.

PMID:
10083729
10.

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
11.

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
12.

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
13.

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
14.

[Alkaptonuria (homogentisic aciduria)].

Takita H.

Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):328-31. Review. Japanese. No abstract available.

PMID:
9590059
15.

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
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.

17.

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.

18.

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.

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
20.

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.

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