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 *

127 related articles for article (PubMed ID: 8896428)

  • 1. Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria.
    McManus JF; Begley CG; Sassa S; Ratnaike S
    Blood; 1996 Nov; 88(9):3589-600. PubMed ID: 8896428
    [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. 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]  

  • 4. 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]  

  • 5. Three new mutations in the uroporphyrinogen decarboxylase gene in familial porphyria cutanea tarda. Mutation in brief no. 237. Online.
    McManus JF; Begley CG; Sassa S; Ratnaike S
    Hum Mutat; 1999; 13(5):412. PubMed ID: 10338097
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Mutations in familial porphyria cutanea tarda: two novel and two previously described for hepatoerythropoietic porphyria.
    Mendez M; Rossetti MV; De Siervi A; del Carmen Batlle AM; Parera V
    Hum Mutat; 2000 Sep; 16(3):269-70. PubMed ID: 10980536
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. Molecular defects of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria.
    Meguro K; Fujita H; Ishida N; Akagi R; Kurihara T; Galbraith RA; Kappas A; Zabriskie JB; Toback AC; Harber LC
    J Invest Dermatol; 1994 May; 102(5):681-5. PubMed ID: 8176248
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene.
    To-Figueras J; Phillips JD; Gonzalez-López JM; Badenas C; Madrigal I; González-Romarís EM; Ramos C; Aguirre JM; Herrero C
    Br J Dermatol; 2011 Sep; 165(3):499-505. PubMed ID: 21668429
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Hepatoerythropoietic Porphyria Caused by a Novel Homoallelic Mutation in Uroporphyrinogen Decarboxylase Gene in Egyptian Patients.
    Farrag MS; Mikula I; Richard E; Saudek V; De Verneuil H; Martásek P
    Folia Biol (Praha); 2015; 61(6):219-26. PubMed ID: 26789143
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern.
    Armstrong DK; Sharpe PC; Chambers CR; Whatley SD; Roberts AG; Elder GH
    Br J Dermatol; 2004 Oct; 151(4):920-3. PubMed ID: 15491440
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Familial and sporadic porphyria cutanea tarda: characterization and diagnostic strategies.
    Aarsand AK; Boman H; Sandberg S
    Clin Chem; 2009 Apr; 55(4):795-803. PubMed ID: 19233912
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Description of a new mutation in hepatoerythropoietic porphyria and prenatal exclusion of a homozygous fetus.
    Ged C; Ozalla D; Herrero C; Lecha M; Mendez M; de Verneuil H; Mascaro JM
    Arch Dermatol; 2002 Jul; 138(7):957-60. PubMed ID: 12071824
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Hepatoerythropoietic porphyria and familial porphyria cutanea tarda in Spanish patients: G281E mutation in the uroporphyrinogen decarboxylase gene.
    Darwich E; To-Figueras J; Badenas C; Herrero C
    Arch Dermatol; 2010 Nov; 146(11):1313-4. PubMed ID: 21079081
    [No Abstract]   [Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. Novel human pathological mutations. Gene symbol: UROD. Disease: porphyria, cutaneous.
    Brancaleoni V; Di Pierro E; Besana V; Ausenda S; Cappellini MD
    Hum Genet; 2007 Dec; 122(5):554-5. PubMed ID: 18383605
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 7.