BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

175 related articles for article (PubMed ID: 16542395)

  • 21. Molecular basis of acute intermittent porphyria: mutations and polymorphisms in the human hydroxymethylbilane synthase gene.
    Astrin KH; Desnick RJ
    Hum Mutat; 1994; 4(4):243-52. PubMed ID: 7866402
    [TBL] [Abstract][Full Text] [Related]  

  • 22. A novel mutation in a family with non-erythroid variant form of acute intermittent porphyria.
    Yu S; Poulos V; Stewart P
    J Hum Genet; 2000; 45(6):367-9. PubMed ID: 11185747
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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]  

  • 24. Circulating fluorocytes at the first attack of acute intermittent porphyria: a missing link in the pathogenesis.
    Lam CW; Lau KC; Mak CM; Tsang MW; Chan YW
    Clin Chim Acta; 2011 Jan; 412(1-2):208-12. PubMed ID: 20850424
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. Nine mutations including three novel mutations among Russian patients with acute intermittent porphyria.
    Pischik E; Mehtälä S; Kauppinen R
    Hum Mutat; 2005 Nov; 26(5):496. PubMed ID: 16211556
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. 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]  

  • 29. Identification of two novel mutations in the hydroxymethylbilane synthase gene in three patients from two unrelated families with acute intermittent porphyria.
    Ong PM; Lanyon WG; Hift RJ; Halkett J; Cramp CE; Moore MR; Connor JM
    Hum Hered; 1998; 48(1):24-9. PubMed ID: 9463797
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Acute intermittent porphyria: rapid molecular diagnosis.
    Puy H; Aquaron R; Lamoril J; Robréau AM; Nordmann Y; Deybach JC
    Cell Mol Biol (Noisy-le-grand); 1997 Feb; 43(1):37-45. PubMed ID: 9074787
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A new mutation within the porphobilinogen deaminase gene leading to a truncated protein as a cause of acute intermittent porphyria in an extended Indian family.
    Flachsová E; Verma IC; Ulbrichová D; Saxena R; Zeman J; Saudek V; Raman CS; Martásek P
    Folia Biol (Praha); 2007; 53(6):194-201. PubMed ID: 18070416
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Acute intermittent porphyria presenting with a subarachnoid haemorrhage.
    van Heyningen C; Simms DM
    Ann Clin Biochem; 2008 Nov; 45(Pt 6):610-1. PubMed ID: 18782811
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Acute intermittent porphyria: a single-base deletion and a nonsense mutation in the human hydroxymethylbilane synthase gene, predicting truncations of the enzyme polypeptide.
    Lee GY; Astrin KH; Desnick RJ
    Am J Med Genet; 1995 Aug; 58(2):155-8. PubMed ID: 8533808
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Acute intermittent porphyria: laboratory diagnosis by molecular methods.
    Schreiber WE
    Clin Lab Med; 1995 Dec; 15(4):943-56. PubMed ID: 8838232
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. Gene symbol: HMBS. Disease: Porphyria, acute intermittent.
    Ulbrichova D; Kurt I; Zeman J; Martasek P
    Hum Genet; 2008 Oct; 124(3):315. PubMed ID: 18846661
    [No Abstract]   [Full Text] [Related]  

  • 37. Diagnosis of latent acute intermittent porphyria by genetic analysis.
    De Siervi A; Varela LS; Parera VE; Batlle AM; Rossetti MV
    Ann Clin Biochem; 2001 Mar; 38(Pt 2):149-52. PubMed ID: 11269757
    [No Abstract]   [Full Text] [Related]  

  • 38. Identification of acute intermittent porphyria carriers by molecular biologic methods.
    Bor M; Balogh K; Pusztai A; Tasnádi G; Hunyady L
    Acta Physiol Hung; 1999; 86(2):147-53. PubMed ID: 10741873
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Detection of DNA variations in the polymorphic hydroxymethylbilane synthase gene by high-resolution melting analysis.
    Ulbrichova-Douderova D; Martasek P
    Anal Biochem; 2009 Dec; 395(1):41-8. PubMed ID: 19664584
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Diagnostic strategy, genetic diagnosis and identification of new mutations in intermittent porphyria by denaturing gradient gel electrophoresis.
    Nissen H; Petersen NE; Mustajoki S; Hansen TS; Mustajoki P; Kauppinen R; Hørder M
    Hum Mutat; 1997; 9(2):122-30. PubMed ID: 9067752
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.