BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

205 related articles for article (PubMed ID: 18647325)

  • 1. A novel 19-bp deletion of exon 15 in the HMBS gene causing acute intermittent porphyria associating with rhabdomyolysis during an acute attack.
    Yrjönen A; Pischik E; Mehtälä S; Kauppinen R
    Clin Genet; 2008 Oct; 74(4):396-8. PubMed ID: 18647325
    [No Abstract]   [Full Text] [Related]  

  • 2. Novel human pathological mutations. Gene symbol: HMBS. Disease: porphyria, acute intermittent.
    Di Pierro E; Besana V; Brancaleoni V; Fasulo MR; Cesaretti C; Cappellini MD
    Hum Genet; 2009 Apr; 125(3):347. PubMed ID: 19320027
    [No Abstract]   [Full Text] [Related]  

  • 3. Novel human pathological mutations. Gene symbol: HMBS. Disease: porphyria, acute intermittent.
    Di Pierro E; Besana V; Brancaleoni V; Ausenda S; Lonati P; Cappellini MD
    Hum Genet; 2007 Nov; 122(3-4):417. PubMed ID: 18350657
    [No Abstract]   [Full Text] [Related]  

  • 4. R173W mutation of hydroxymethylbilane synthetase is associated with acute intermittent porphyria complicated with rhabdomyolysis: the first report.
    Chen MC; Chang CJ; Lu YH; Niu DM; Lou HY; Chang CC
    J Clin Gastroenterol; 2015 Mar; 49(3):256-7. PubMed ID: 25389600
    [No Abstract]   [Full Text] [Related]  

  • 5. 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]  

  • 6. A novel 12-base pair deletion mutation in exon 15 of the porphobilinogen deaminase gene in a Taiwanese patient with acute intermittent porphyria.
    Sakabe J; Susa S; Daimon M; Lan MY; Kato T
    Blood Cells Mol Dis; 2008; 41(2):202. PubMed ID: 18554962
    [No Abstract]   [Full Text] [Related]  

  • 7. New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria.
    Gross U; Puy H; Doss M; Robreau AM; Nordmann Y; Doss MO; Deybach JC
    Mol Cell Probes; 1999 Dec; 13(6):443-7. PubMed ID: 10657149
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Gene symbol: HMBS. Disease: Acute intermittent porphyria.
    Solis CS; Lopez-Echaniz I; Sefarty-Graneda D; Astrin KH; Desnick RJ
    Hum Genet; 2004 Mar; 114(4):402. PubMed ID: 15046057
    [No Abstract]   [Full Text] [Related]  

  • 9. Molecular analysis of the hydroxymethylbilane synthase (HMBS) gene in Italian patients with acute intermittent porphyria: report of four novel mutations.
    Martinez di Montemuros F; Di Pierro E; Fargion S; Biolcati G; Griso D; Macrì A; Fiorelli G; Cappellini MD
    Hum Mutat; 2000 May; 15(5):480. PubMed ID: 10790212
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel human pathological mutations. Gene symbol: HMBS. Disease: porphyria, acute intermittent.
    Besana V; Di Pierro E; Brancaleoni V; Sabrina A; Fiocchi M; Cappellini MD
    Hum Genet; 2009 Apr; 125(3):344. PubMed ID: 19320020
    [No Abstract]   [Full Text] [Related]  

  • 11. Identification and characterization of two novel mutations that produce acute intermittent porphyria: A 3-base deletion (841-843delGGA) and a missense mutation (T35M).
    De Siervi A; Weiss Cádiz DE; Parera VE; del C Batlle AM; Rossetti MV
    Hum Mutat; 2000 Oct; 16(4):373. PubMed ID: 11013452
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Two deletion mutations in the hydroxymethylbilane synthase gene in two unrelated Japanese patients with acute intermittent porphyria.
    Maeda N; Horie Y; Adachi K; Nanba E; Kawasaki H; Daimon M; Kudo Y; Kondo M
    J Hum Genet; 2000; 45(4):263-8. PubMed ID: 10944860
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Gene symbol: HMBS. Disease: porphyria, acute intermittent.
    Di Pierro E; Besana V; Ausenda S; Brancaleoni V; Cappellini MD
    Hum Genet; 2006 Apr; 119(3):360. PubMed ID: 17230647
    [No Abstract]   [Full Text] [Related]  

  • 14. Acute intermittent porphyria: alternative splicing of hydroxymethylbilane synthase mRNA excludes exons 3 and 12.
    Ong PM; Lanyon WG; Moore MR; Connor JM
    Mol Cell Probes; 1998 Apr; 12(2):63-70. PubMed ID: 9633040
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Nine novel mutations in the hydroxymethylbilane synthase gene of Polish patients with acute intermittent porphyria.
    Schneider-Yin X; Szlendak U; Lipniacka AI; Minder EI; Gregor A
    Clin Genet; 2006 Mar; 69(3):284-6. PubMed ID: 16542395
    [No Abstract]   [Full Text] [Related]  

  • 16. Novel human pathological mutations. Gene symbol: HMBS. Disease: Acute intermittent porphyria.
    Ulbrichova D; Mamet R; Munter G; Martasek P; Schoenfeld N
    Hum Genet; 2010 Jan; 127(1):114. PubMed ID: 20108425
    [No Abstract]   [Full Text] [Related]  

  • 17. Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties.
    Ulbrichova D; Hrdinka M; Saudek V; Martasek P
    FEBS J; 2009 Apr; 276(7):2106-15. PubMed ID: 19292878
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria.
    Ulbrichova D; Schneider-Yin X; Mamet R; Saudek V; Martasek P; Minder EI; Schoenfeld N
    Blood Cells Mol Dis; 2009; 42(2):167-73. PubMed ID: 19138865
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutation in the exon 10 (R173W) of the hydroxymethylbilane synthase gene in two unrelated Japanese families with acute intermittent porphyria.
    Tomie Y; Horie Y; Tajima F; Kitaoka S; Nanba E; Yuasa I; Kawasaki H
    Res Commun Mol Pathol Pharmacol; 1998 Jan; 99(1):5-15. PubMed ID: 9523350
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Gene symbol: HMBS. Disease: porphyria, acute intermittent.
    Di Pierro E; Besana V; Moriondo V; Brancaleoni V; Cappellini MD
    Hum Genet; 2006 Apr; 119(3):364. PubMed ID: 16491346
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 11.