These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

174 related articles for article (PubMed ID: 19419417)

  • 1. Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives.
    Badenas C; To-Figueras J; Phillips JD; Warby CA; Muñoz C; Herrero C
    Clin Genet; 2009 Apr; 75(4):346-53. PubMed ID: 19419417
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations.
    Weiss Y; Chen B; Yasuda M; Nazarenko I; Anderson KE; Desnick RJ
    Mol Genet Metab; 2019 Nov; 128(3):363-366. PubMed ID: 30514647
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria.
    Moran-Jimenez MJ; Ged C; Romana M; Enriquez De Salamanca R; Taïeb A; Topi G; D'Alessandro L; de Verneuil H
    Am J Hum Genet; 1996 Apr; 58(4):712-21. PubMed ID: 8644733
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f-PCT).
    Cappellini MD; Martinez di Montemuros F; Tavazzi D; Fargion S; Pizzuti A; Comino A; Cainelli T; Fiorelli G
    Hum Mutat; 2001 Apr; 17(4):350. PubMed ID: 11295834
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Molecular heterogeneity of familial porphyria cutanea tarda in Spain: characterization of 10 novel mutations in the UROD gene.
    Méndez M; Poblete-Gutiérrez P; García-Bravo M; Wiederholt T; Morán-Jiménez MJ; Merk HF; Garrido-Astray MC; Frank J; Fontanellas A; Enríquez de Salamanca R
    Br J Dermatol; 2007 Sep; 157(3):501-7. PubMed ID: 17627795
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Familial porphyria cutanea tarda in Spain: characterization of eight novel mutations in the UROD gene and haplotype analysis of the common p.G281E mutation.
    Gómez-Abecia S; Morán-Jiménez MJ; Ruiz-Casares E; Henriques-Gil N; García-Pastor I; Garrido-Astray MC; Enríquez de Salamanca R; Méndez M
    Gene; 2013 Jun; 522(1):89-95. PubMed ID: 23545314
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Uroporphyrinogen decarboxylase gene mutations in Danish patients with porphyria cutanea tarda.
    Christiansen L; Bygum A; Jensen A; Brandrup F; Thomsen K; Horder M; Petersen NE
    Scand J Clin Lab Invest; 2000 Nov; 60(7):611-5. PubMed ID: 11202053
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: characterization of four novel mutations.
    Méndez M; Rossetti MV; Gómez-Abecia S; Morán-Jiménez MJ; Parera V; Batlle A; Enríquez de Salamanca R
    Mol Genet Metab; 2012 Apr; 105(4):629-33. PubMed ID: 22382040
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT.
    Christiansen L; Ged C; Hombrados I; Brons-Poulsen J; Fontanellas A; de Verneuil H; Hørder M; Petersen NE
    Hum Mutat; 1999; 14(3):222-32. PubMed ID: 10477430
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Pathogenesis of porphyria cutanea tarda].
    Kószó F; Simon M
    Orv Hetil; 2000 Apr; 141(14):709-13. PubMed ID: 10803012
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Co-inheritance of mutations in the uroporphyrinogen decarboxylase and hemochromatosis genes accelerates the onset of porphyria cutanea tarda.
    Brady JJ; Jackson HA; Roberts AG; Morgan RR; Whatley SD; Rowlands GL; Darby C; Shudell E; Watson R; Paiker J; Worwood MW; Elder GH
    J Invest Dermatol; 2000 Nov; 115(5):868-74. PubMed ID: 11069625
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Porphyria cutanea tarda, hepatitis C, uroporphyrinogen decarboxylase and mutations of HFE gene. A case-control study.
    Cribier B; Chiaverini C; Dali-Youcef N; Schmitt M; Grima M; Hirth C; Lacour JP; Chosidow O
    Dermatology; 2009; 218(1):15-21. PubMed ID: 19001803
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Porphyria cutanea tarda.
    Elder GH
    Semin Liver Dis; 1998; 18(1):67-75. PubMed ID: 9516680
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Erythrocyte uroporphyrinogen decarboxylase activity: diagnostic value and relationship with clinical features in hereditary porphyria cutanea tarda.
    Camagna A; Del Duca P; Petrinelli P; Borelli LG; Ciancio L; Cipollone L; Misasi G; Manfredi MR; Dionisi S; de Martinis C
    Am J Med Sci; 1998 Jan; 315(1):59-62. PubMed ID: 9427577
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles.
    Mendez M; Sorkin L; Rossetti MV; Astrin KH; del C Batlle AM; Parera VE; Aizencang G; Desnick RJ
    Am J Hum Genet; 1998 Nov; 63(5):1363-75. PubMed ID: 9792863
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The molecular basis of porphyria cutanea tarda in Chile: identification and functional characterization of mutations in the uroporphyrinogen decarboxylase gene.
    Poblete-Gutiérrez P; Mendez M; Wiederholt T; Merk HF; Fontanellas A; Wolff C; Frank J
    Exp Dermatol; 2004 Jun; 13(6):372-9. PubMed ID: 15186324
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Identification of a mutation in the ovine uroporphyrinogen decarboxylase (UROD) gene associated with a type of porphyria.
    Nezamzadeh R; Seubert A; Pohlenz J; Brenig B
    Anim Genet; 2005 Aug; 36(4):297-302. PubMed ID: 16026339
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A mutation (G281E) of the human uroporphyrinogen decarboxylase gene causes both hepatoerythropoietic porphyria and overt familial porphyria cutanea tarda: biochemical and genetic studies on Spanish patients.
    Roberts AG; Elder GH; De Salamanca RE; Herrero C; Lecha M; Mascaro JM
    J Invest Dermatol; 1995 Apr; 104(4):500-2. PubMed ID: 7706766
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel human pathological mutations. Gene symbol: UROD. Disease: porphyria, cutanea tarda.
    Savino M; Garrubba M; Zelante L; Aucella F; Guida CC; Santini SA
    Hum Genet; 2010 Apr; 127(4):474. PubMed ID: 21488236
    [No Abstract]   [Full Text] [Related]  

  • 20. Novel human pathological mutations. Gene symbol: UROD. Disease: porphyria, cutaneous.
    Brancaleoni V; Dipierro E; Ausenda S; Besana V; Cappellini MD
    Hum Genet; 2007 Nov; 122(3-4):415. PubMed ID: 18350650
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 9.