BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

239 related articles for article (PubMed ID: 17597821)

  • 21. Erythropoietic protoporphyria.
    Lecha M; Puy H; Deybach JC
    Orphanet J Rare Dis; 2009 Sep; 4():19. PubMed ID: 19744342
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Hypermethylation of the wild-type ferrochelatase allele is closely associated with severe liver complication in a family with erythropoietic protoporphyria.
    Onaga Y; Ido A; Uto H; Hasuike S; Kusumoto K; Moriuchi A; Numata M; Nagata K; Hori T; Hayashi K; Tsubouchi H
    Biochem Biophys Res Commun; 2004 Sep; 321(4):851-8. PubMed ID: 15358105
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Co-existence of two functional mutations on the same allele of the human ferrochelatase gene in erythropoietic protoporphyria.
    Di Pierro E; Brancaleoni V; Moriondo V; Besana V; Cappellini MD
    Clin Genet; 2007 Jan; 71(1):84-8. PubMed ID: 17204051
    [TBL] [Abstract][Full Text] [Related]  

  • 24. A homoallelic FECH mutation in a patient with both erythropoietic protoporphyria and palmar keratoderma.
    Minder EI; Schneider-Yin X; Mamet R; Horev L; Neuenschwander S; Baumer A; Austerlitz F; Puy H; Schoenfeld N
    J Eur Acad Dermatol Venereol; 2010 Nov; 24(11):1349-53. PubMed ID: 20337824
    [TBL] [Abstract][Full Text] [Related]  

  • 25. A novel large deletion and three polymorphisms in the FECH gene associated with erythropoietic protoporphyria.
    Li C; Di Pierro E; Brancaleoni V; Cappellini MD; Steensma DP
    Clin Chem Lab Med; 2009; 47(1):44-6. PubMed ID: 19055472
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Late presentation of erythropoietic protoporphyria: case report and genetic analysis of family members.
    Berroeta L; Man I; Goudie DR; Whatley SD; Elder GH; Ibbotson SH
    Br J Dermatol; 2007 Nov; 157(5):1030-1. PubMed ID: 17711525
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria.
    Rüfenacht UB; Gouya L; Schneider-Yin X; Puy H; Schäfer BW; Aquaron R; Nordmann Y; Minder EI; Deybach JC
    Am J Hum Genet; 1998 Jun; 62(6):1341-52. PubMed ID: 9585598
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria.
    Dickey AK; Quick C; Ducamp S; Zhu Z; Feng YA; Naik H; Balwani M; Anderson KE; Lin X; Phillips JE; Rebeiz L; Bonkovsky HL; McGuire BM; Wang B; Chasman DI; Smoller JW; Fleming MD; Christiani DC
    Genet Med; 2021 Jan; 23(1):140-148. PubMed ID: 32873934
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Identification of a ferrochelatase mutation in a Chinese family with erythropoietic protoporphyria.
    Kong XF; Ye J; Gao DY; Gong QM; Zhang DH; Lu ZM; Lu YM; Zhang XX
    J Hepatol; 2008 Feb; 48(2):375-9. PubMed ID: 18160121
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Biochemical and molecular diagnosis of erythropoietic protoporphyria in an Ashkenazi Jewish family.
    Schneider-Yin X; Mamet R; Minder EI; Schoenfeld N
    J Inherit Metab Dis; 2008 Dec; 31 Suppl 2():S363-7. PubMed ID: 18758989
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria.
    Balwani M; Naik H; Anderson KE; Bissell DM; Bloomer J; Bonkovsky HL; Phillips JD; Overbey JR; Wang B; Singal AK; Liu LU; Desnick RJ
    JAMA Dermatol; 2017 Aug; 153(8):789-796. PubMed ID: 28614581
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria.
    Balwani M; Doheny D; Bishop DF; Nazarenko I; Yasuda M; Dailey HA; Anderson KE; Bissell DM; Bloomer J; Bonkovsky HL; Phillips JD; Liu L; Desnick RJ;
    Mol Med; 2013 Apr; 19(1):26-35. PubMed ID: 23364466
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Functional associations of genetic variants involved in the clinical manifestation of erythropoietic protoporphyria in the Argentinean population.
    Colombo FP; Rossetti MV; Méndez M; Martínez JE; Enríquez de Salamanca R; del C Batlle AM; Parera VE
    J Eur Acad Dermatol Venereol; 2013 Jun; 27(6):754-62. PubMed ID: 22591014
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Genetic study in a Singaporean patient with erythropoietic protoporphyria.
    Chuah SY; Tee SI; Pramono ZA; Theng CT
    Photodermatol Photoimmunol Photomed; 2012 Oct; 28(5):269-71. PubMed ID: 22971195
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Ferrochelatase gene mutations in erythropoietic protoporphyria: focus on liver disease.
    Chen FP; Risheg H; Liu Y; Bloomer J
    Cell Mol Biol (Noisy-le-grand); 2002 Feb; 48(1):83-9. PubMed ID: 11929052
    [TBL] [Abstract][Full Text] [Related]  

  • 36. The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH.
    Gouya L; Puy H; Robreau AM; Bourgeois M; Lamoril J; Da Silva V; Grandchamp B; Deybach JC
    Nat Genet; 2002 Jan; 30(1):27-8. PubMed ID: 11753383
    [TBL] [Abstract][Full Text] [Related]  

  • 37. A genotype-phenotype correlation between null-allele mutations in the ferrochelatase gene and liver complication in patients with erythropoietic protoporphyria.
    Minder EI; Gouya L; Schneider-Yin X; Deybach JC
    Cell Mol Biol (Noisy-le-grand); 2002 Feb; 48(1):91-6. PubMed ID: 11929053
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Erythropoietic protoporphyria: a family study and report of a novel mutation in the FECH gene.
    Morais P; Mota A; Baudrier T; Trigo F; Oliveira JP; Cerqueira R; Palmeiro A; Tavares P; Azevedo F
    Eur J Dermatol; 2011; 21(4):479-83. PubMed ID: 21659066
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Photosensitivity and acute liver injury in myeloproliferative disorder secondary to late-onset protoporphyria caused by deletion of a ferrochelatase gene in hematopoietic cells.
    Goodwin RG; Kell WJ; Laidler P; Long CC; Whatley SD; McKinley M; Badminton MN; Burnett AK; Williams GT; Elder GH
    Blood; 2006 Jan; 107(1):60-2. PubMed ID: 16150949
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria.
    Gouya L; Martin-Schmitt C; Robreau AM; Austerlitz F; Da Silva V; Brun P; Simonin S; Lyoumi S; Grandchamp B; Beaumont C; Puy H; Deybach JC
    Am J Hum Genet; 2006 Jan; 78(1):2-14. PubMed ID: 16385445
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 12.