BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

213 related articles for article (PubMed ID: 18350656)

  • 1. Novel human pathological mutations. Gene symbol: PPOX. Disease: porphyria, variegate.
    Ausenda S; Di Pierro E; Brancaleoni V; Besana V; Cappellini MD
    Hum Genet; 2007 Nov; 122(3-4):417. PubMed ID: 18350656
    [No Abstract]   [Full Text] [Related]  

  • 2. Novel human pathological mutations. Gene symbol: PPOX. Disease: porphyria, variegate.
    Ausenda S; Moriondo V; Marchini S; Besana V; Di Pierro E; Brancaleoni V; Ventura P; Rocchi E; Cappellini MD
    Hum Genet; 2009 Apr; 125(3):344. PubMed ID: 19320019
    [No Abstract]   [Full Text] [Related]  

  • 3. Gene symbol: PPOX. Disease: Porphyria, variegate.
    Ausenda S; Di Pierro E; Besana V; Brancaleoni V; Cappellini MD
    Hum Genet; 2008 Feb; 123(1):109. PubMed ID: 18386343
    [No Abstract]   [Full Text] [Related]  

  • 4. [Identification of mutations in the protoporphyrin oxidase gene and its diagnostic implications in porphyria variegata in Chile].
    Wolff C; Frank J; Poblete-Gutiérrez P
    Rev Invest Clin; 2006; 58(4):289-95. PubMed ID: 17146940
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A recurrent mutation in variegate porphyria patients from Chile and Sweden: Evidence for a common genetic background?
    van Serooskerken AM; Ernst M; Bladergroen RS; Wolff C; Floderus Y; Harper P; Poblete-Gutiérrez P; van Geel M; Frank J
    J Dermatol Sci; 2011 Jan; 61(1):75-7. PubMed ID: 21111578
    [No Abstract]   [Full Text] [Related]  

  • 6. Simultaneous manifestation of variegate porphyria in monozygotic twins.
    Borradori L; Van Tuyll van Serooskerken AM; Abraham S; Hohl D; Schneider-Yin X; Minder E; Frank J
    Br J Dermatol; 2008 Aug; 159(2):503-5. PubMed ID: 18544078
    [No Abstract]   [Full Text] [Related]  

  • 7. Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias.
    Schneider-Yin X; van Tuyll van Serooskerken AM; Siegesmund M; Went P; Barman-Aksözen J; Bladergroen RS; Komminoth P; Cloots RH; Winnepenninckx VJ; zur Hausen A; Weber M; Driessen A; Poblete-Gutiérrez P; Bauer P; Schroeder C; van Geel M; Minder EI; Frank J
    J Hepatol; 2015 Mar; 62(3):734-8. PubMed ID: 25445397
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Extended haplotype studies in South African and Dutch variegate porphyria families carrying the recurrent p.R59W mutation confirm a common ancestry.
    van Tuyll van Serooskerken AM; Drögemöller BI; Te Velde K; Bladergroen RS; Steijlen PM; Poblete-Gutiérrez P; van Geel M; van Heerden CJ; Warnich L; Frank J
    Br J Dermatol; 2012 Feb; 166(2):261-5. PubMed ID: 21910705
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Retracing an old journey in variegate porphyria.
    Badminton MN
    Br J Dermatol; 2012 Feb; 166(2):237. PubMed ID: 22268855
    [No Abstract]   [Full Text] [Related]  

  • 10. Mitochondrial targeting of human protoporphyrinogen oxidase.
    Davids LM; Corrigall AV; Meissner PN
    Cell Biol Int; 2006 May; 30(5):416-26. PubMed ID: 16621625
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The assessment of noncoding variant of PPOX gene in variegate porphyria reveals post-transcriptional role of the 5' untranslated exon 1.
    Fiorentino V; Brancaleoni V; Granata F; Graziadei G; Di Pierro E
    Blood Cells Mol Dis; 2016 Oct; 61():48-53. PubMed ID: 27667166
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Two new mutations in the PPOX gene in a patient with variegate porphyria.
    Collantes-Rodríguez C; de la Varga-Martínez R; Villegas-Romero I; Jiménez-Gallo D; Linares-Barrios M; Mora-López F
    J Dtsch Dermatol Ges; 2020 Apr; 18(4):381-383. PubMed ID: 32247286
    [No Abstract]   [Full Text] [Related]  

  • 13. Variegate porphyria in a 46-year-old patient taking sibutramine for weight loss.
    Reiser M; Eickmann S; Haverkamp T; Finckh U
    Obes Rev; 2010 Apr; 11(4):329-31. PubMed ID: 19845869
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genetic and biochemical studies in Argentinean patients with variegate porphyria.
    Rossetti MV; Granata BX; Giudice J; Parera VE; Batlle A
    BMC Med Genet; 2008 Jun; 9():54. PubMed ID: 18570668
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel mutation of PPOX gene in a patient with abdominal pain and syndrome of inappropriate antidiuresis.
    Tabaro I; Reimondo G; Osella G; Aurizi C; Caraci P; Barbieri L; Giachino DF; Sirchia F; Terzolo M
    Endocrine; 2018 Sep; 61(3):403-406. PubMed ID: 29516370
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Hepatocellular carcinoma in variegate porphyria: a serious complication.
    Schneider-Yin X; van Tuyll van Serooskerken AM; Went P; Tyblewski W; Poblete-Gutiérrez P; Minder EI; Frank J
    Acta Derm Venereol; 2010 Sep; 90(5):512-5. PubMed ID: 20814629
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Quantitative structural insight into human variegate porphyria disease.
    Wang B; Wen X; Qin X; Wang Z; Tan Y; Shen Y; Xi Z
    J Biol Chem; 2013 Apr; 288(17):11731-40. PubMed ID: 23467411
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Overrepresentation of the founder PPOX gene mutation R59W in a South African patient with severe clinical manifestation of porphyria.
    de Villiers JN; Kotze MJ; van Heerden CJ; Sadie A; Gardner HF; Liebenberg J; van Zyl R; du Plessis L; Kimberg M; Frank J; Warnich L
    Exp Dermatol; 2005 Jan; 14(1):50-5. PubMed ID: 15660919
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Further Characterization of the Neuroendocrine Phenotype Associated With the PPOX-Related Variegate Porphyria.
    Assaleh YA; Tabarki B
    Pediatr Neurol; 2023 Dec; 149():141-144. PubMed ID: 37879139
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A boy with blistering of sun-exposed skin and finger shortening: the first case of Variegate Porphyria with a novel mutation in protoporphyrinogen oxidase (PPOX) gene in Iran: a case report and literature review.
    Vafaee-Shahi M; Ghasemi S; Riahi A; Sadr Z
    Ital J Pediatr; 2022 Feb; 48(1):27. PubMed ID: 35164799
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.