BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

132 related articles for article (PubMed ID: 19673873)

  • 1. A homozygous mutation in the ferrochelatase gene underlies erythropoietic protoporphyria associated with palmar keratoderma--reply.
    Holme SA; Anstey AV; Whatley SD; Elder GH; Badminton MN
    Br J Dermatol; 2009 Oct; 161(4):966-7. PubMed ID: 19673873
    [No Abstract]   [Full Text] [Related]  

  • 2. A homozygous mutation in the ferrochelatase gene underlies erythropoietic protoporphyria associated with palmar keratoderma.
    Méndez M; Poblete-Gutiérrez P; Morán-Jiménez MJ; Rodriguez ME; Garrido-Astray MC; Fontanellas A; Frank J; de Salamanca RE
    Br J Dermatol; 2009 Jun; 160(6):1330-4. PubMed ID: 19298273
    [No Abstract]   [Full Text] [Related]  

  • 3. 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]  

  • 4. Exclusion of ferrochelatase gene mutations in patients with seasonal palmoplantar keratoderma.
    Schimmel RJ; Van Tuyll Van Serooskerke AM; Bladergroen RS; Van Steensel AM; van Geel M; Pasmans SG; Frank J
    Cell Mol Biol (Noisy-le-grand); 2009 Jul; 55(2):111-7. PubMed ID: 19656459
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance.
    Holme SA; Whatley SD; Roberts AG; Anstey AV; Elder GH; Ead RD; Stewart MF; Farr PM; Lewis HM; Davies N; White MI; Ackroyd RS; Badminton MN
    J Invest Dermatol; 2009 Mar; 129(3):599-605. PubMed ID: 18787536
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel mutation of the FECH gene in a Chinese family with erythropoietic protoporphyria.
    Zhou SN; Xiao SX; Peng ZH; Li BX; Li XL; Liu Y; Luo SJ
    J Dermatol Sci; 2007 Nov; 48(2):145-7. PubMed ID: 17723290
    [No Abstract]   [Full Text] [Related]  

  • 7. Clinical, biochemical, and genetic study of 11 patients with erythropoietic protoporphyria including one with homozygous disease.
    Herrero C; To-Figueras J; Badenas C; Méndez M; Serrano P; Enríquez-Salamanca R; Lecha M
    Arch Dermatol; 2007 Sep; 143(9):1125-9. PubMed ID: 17875872
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Erythropoietic Protoporphyria in a Japanese Population.
    Mizawa M; Makino T; Nakano H; Sawamura D; Shimizu T
    Acta Derm Venereol; 2019 Jun; 99(7):634-639. PubMed ID: 30938825
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Incomplete erythropoietic protoporphyria caused by a splice site modulator homozygous IVS3-48C polymorphism in the ferrochelatase gene.
    Mizawa M; Makino T; Nakano H; Sawamura D; Shimizu T
    Br J Dermatol; 2016 Jan; 174(1):172-5. PubMed ID: 26280465
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Novel mutation of the ferrochelatase gene in a Japanese family with erythropoietic protoporphyria.
    Saito A; Okiyama N; Inoue S; Kubota N; Nakamura Y; Ishitsuka Y; Watanabe R; Nakano H; Fujisawa Y
    J Dermatol; 2020 Apr; 47(4):e114-e116. PubMed ID: 32056258
    [No Abstract]   [Full Text] [Related]  

  • 12. Case of late-onset erythropoietic protoporphyria with myelodysplastic syndrome who has homozygous IVS3-48C polymorphism in the ferrochelatase gene.
    Suzuki H; Kikuchi K; Fukuhara N; Nakano H; Aiba S
    J Dermatol; 2017 Jun; 44(6):651-655. PubMed ID: 28026050
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. A point mutation affecting an SP1 binding site in the promoter of the ferrochelatase gene impairs gene transcription and causes erythropoietic protoporphyria.
    Di Pierro E; Cappellini MD; Mazzucchelli R; Moriondo V; Mologni D; Zanone Poma B; Riva A
    Exp Hematol; 2005 May; 33(5):584-91. PubMed ID: 15850836
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical implications of advances in understanding the inheritance of erythropoietic protoporphyria.
    Sarkany R
    Br J Dermatol; 2010 May; 162(5):1156-7. PubMed ID: 20222927
    [No Abstract]   [Full Text] [Related]  

  • 16. Heterogeneity of mutations in the ferrochelatase gene in Italian patients with erythropoietic protoporphyria.
    Aurizi C; Schneider-Yin X; Sorge F; Macrì A; Minder EI; Biolcati G
    Mol Genet Metab; 2007 Apr; 90(4):402-7. PubMed ID: 17196862
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Erythropoietic protoporphyria in Sweden: demographic, clinical, biochemical and genetic characteristics.
    Wahlin S; Floderus Y; Stål P; Harper P
    J Intern Med; 2011 Mar; 269(3):278-88. PubMed ID: 20412370
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel splicing mutation and haplotype analysis of the FECH gene in a Chinese family with erythropoietic protoporphyria.
    Ma J; Xiao S; An J; Wang X; Xu Q; Dong Y; Feng Y; Wang J
    J Eur Acad Dermatol Venereol; 2010 Jun; 24(6):726-9. PubMed ID: 19888946
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Erythropoietic protoporphyria: spectrum of three cases.
    Bertrand J; Clarke JT; Hanna D
    J Cutan Med Surg; 2012; 16(5):311-6. PubMed ID: 22971305
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A 10376 bp deletion of FECH gene responsible for erythropoietic protoporphyria.
    Di Pierro E; Brancaleoni V; Besana V; Ausenda S; Drury S; Cappellini MD
    Blood Cells Mol Dis; 2008; 40(2):233-6. PubMed ID: 17888693
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.