BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

387 related articles for article (PubMed ID: 30385147)

  • 1. Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations.
    Loskove Y; Yasuda M; Chen B; Nazarenko I; Cody N; Desnick RJ
    Mol Genet Metab; 2019 Nov; 128(3):352-357. PubMed ID: 30385147
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Diagnostic strategies for autosomal dominant acute porphyrias: retrospective analysis of 467 unrelated patients referred for mutational analysis of the HMBS, CPOX, or PPOX gene.
    Whatley SD; Mason NG; Woolf JR; Newcombe RG; Elder GH; Badminton MN
    Clin Chem; 2009 Jul; 55(7):1406-14. PubMed ID: 19460837
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Molecular characterization of porphyrias in Italy: a diagnostic flow-chart.
    Martinez di Montemuros F; Di Pierro E; Patti E; Tavazzi D; Danielli MG; Biolcati G; Rocchi E; Cappellini MD
    Cell Mol Biol (Noisy-le-grand); 2002 Dec; 48(8):867-76. PubMed ID: 12699245
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Molecular analysis of 19 Spanish patients with mixed porphyrias.
    Borrero Corte MJ; Jara Rubio F; Morán Jiménez MJ; Díaz Díaz S; Castelbón Fernandez FJ; García Pastor I; Enríquez de Salamanca R; Méndez M
    Eur J Med Genet; 2019 Dec; 62(12):103589. PubMed ID: 30476629
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Digenic inheritance of mutations in the coproporphyrinogen oxidase and protoporphyrinogen oxidase genes in a unique type of porphyria.
    van Tuyll van Serooskerken AM; de Rooij FW; Edixhoven A; Bladergroen RS; Baron JM; Joussen S; Merk HF; Steijlen PM; Poblete-Gutiérrez P; te Velde K; Wilson JH; Koole RH; van Geel M; Frank J
    J Invest Dermatol; 2011 Nov; 131(11):2249-54. PubMed ID: 21734717
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Review: molecular pathogenesis of hepatic acute porphyrias.
    Grandchamp B; Puy H; Lamoril J; Deybach JC; Nordmann Y
    J Gastroenterol Hepatol; 1996 Nov; 11(11):1046-52. PubMed ID: 8985829
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.
    Gouya L; Puy H; Robreau AM; Lyoumi S; Lamoril J; Da Silva V; Grandchamp B; Deybach JC
    Hum Genet; 2004 Feb; 114(3):256-62. PubMed ID: 14669009
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP).
    Dragneva S; Szyszka-Niagolov M; Ivanova A; Mateva L; Izumi R; Aoki Y; Matsubara Y
    JIMD Rep; 2014; 16():57-64. PubMed ID: 24997713
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.
    Yasuda M; Chen B; Desnick RJ
    Mol Genet Metab; 2019 Nov; 128(3):320-331. PubMed ID: 30594473
    [TBL] [Abstract][Full Text] [Related]  

  • 11. AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review.
    Wang B; Bonkovsky HL; Lim JK; Balwani M
    Gastroenterology; 2023 Mar; 164(3):484-491. PubMed ID: 36642627
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria.
    Chen B; Solis-Villa C; Erwin AL; Balwani M; Nazarenko I; Phillips JD; Desnick RJ; Yasuda M
    J Inherit Metab Dis; 2019 Jan; 42(1):186-194. PubMed ID: 30740734
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Pathogenesis and clinical features of the acute hepatic porphyrias (AHPs).
    Bonkovsky HL; Dixon N; Rudnick S
    Mol Genet Metab; 2019 Nov; 128(3):213-218. PubMed ID: 30987916
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.
    Weiss Y; Balwani M; Chen B; Yasuda M; Nazarenko I; Desnick RJ
    Mol Genet Metab; 2019 Nov; 128(3):358-362. PubMed ID: 30454868
    [TBL] [Abstract][Full Text] [Related]  

  • 15. International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.
    Chen B; Whatley S; Badminton M; Aarsand AK; Anderson KE; Bissell DM; Bonkovsky HL; Cappellini MD; Floderus Y; Friesema ECH; Gouya L; Harper P; Kauppinen R; Loskove Y; Martásek P; Phillips JD; Puy H; Sandberg S; Schmitt C; To-Figueras J; Weiss Y; Yasuda M; Deybach JC; Desnick RJ
    Genet Med; 2019 Nov; 21(11):2605-2613. PubMed ID: 31073229
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Demystification of Chester porphyria: a nonsense mutation in the Porphobilinogen Deaminase gene.
    Poblete-Gutiérrez P; Wiederholt T; Martinez-Mir A; Merk HF; Connor JM; Christiano AM; Frank J
    Physiol Res; 2006; 55 Suppl 2():S137-144. PubMed ID: 17298217
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Molecular study of the hydroxymethylbilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria.
    Gregor A; Schneider-Yin X; Szlendak U; Wettstein A; Lipniacka A; Rüfenacht UB; Minder EI
    Hum Mutat; 2002 Mar; 19(3):310. PubMed ID: 11857754
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Acute porphyrias in the Argentinean population: a review.
    Parera VE; De Siervi A; Varela L; Rossetti MV; Batlle AM
    Cell Mol Biol (Noisy-le-grand); 2003 Jun; 49(4):493-500. PubMed ID: 12899439
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Molecular genetic study of acute intermittent porphyria in Russia: HMBS gene mutation spectrum and problem of penetrance.
    Goncharova M; Pshenichnikova O; Luchinina Y; Pustovoit Y; Karpova I; Surin V
    Clin Genet; 2019 Jul; 96(1):91-97. PubMed ID: 31044425
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Two Novel Hydroxymethylbilane Synthase Splicing Mutations Predispose to Acute Intermittent Porphyria.
    Zhang Y; Xiao H; Xiong Q; Wu C; Li P
    Int J Mol Sci; 2021 Oct; 22(20):. PubMed ID: 34681668
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 20.