These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

137 related articles for article (PubMed ID: 9365077)

  • 1. Congenital erythropoietic porphyria, description of a new mutation in two brothers.
    Moruno Tirado A; Herrera Saval A; Martinez Montero E; Hernandez Hazanas F; Ceballos Aragon J; Ged C; de Verneuil H
    Eur J Pediatr; 1997 Oct; 156(10):817-8. PubMed ID: 9365077
    [No Abstract]   [Full Text] [Related]  

  • 2. Identification of mutations in the uroporphyrinogen III synthase gene in a Thai girl patient with congenital erythropoietic porphyria.
    Glomglao W; Treesucon A; Roothumnong E; Thongnoppakhun W; Siraprapapat P; Suwanthol L; Sanpakit K; Tanphaichitr VS
    Int J Lab Hematol; 2015 Apr; 37(2):e44-7. PubMed ID: 25092523
    [No Abstract]   [Full Text] [Related]  

  • 3. Compound heterozygosity for a premature termination codon and missense mutation in the exon 10 of the uroporphyrinogen III cosynthase gene causes a severe phenotype of congenital erythropoietic porphyria.
    Kang TW; Oh SW; Kim MR; Lee JS; Kim SC
    J Eur Acad Dermatol Venereol; 2009 Apr; 23(4):470-1. PubMed ID: 18647208
    [No Abstract]   [Full Text] [Related]  

  • 4. Prenatal diagnosis in congenital erythropoietic porphyria by metabolic measurement and DNA mutation analysis.
    Ged C; Moreau-Gaudry F; Taine L; Hombrados I; Calvas P; Colombies P; De Verneuil H
    Prenat Diagn; 1996 Jan; 16(1):83-6. PubMed ID: 8821859
    [TBL] [Abstract][Full Text] [Related]  

  • 5. C73R is a hotspot mutation in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.
    Frank J; Wang X; Lam HM; Aita VM; Jugert FK; Goerz G; Merk HF; Poh-Fitzpatrick MB; Christiano AM
    Ann Hum Genet; 1998 May; 62(Pt 3):225-30. PubMed ID: 9803266
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Congenital erythropoietic porphyria: mild presentation with late onset associated with a mutation in the UROS gene promoter sequence.
    Fityan A; Fassihi H; Sarkany R
    Clin Exp Dermatol; 2016 Dec; 41(8):953-954. PubMed ID: 27859603
    [No Abstract]   [Full Text] [Related]  

  • 7. Congenital erythropoietic porphyria affecting two brothers.
    Herrera Saval A; Moruno Tirado A
    Br J Dermatol; 1999 Sep; 141(3):547-50. PubMed ID: 10583066
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Congenital erythropoietic porphyria: mutation update and correlations between genotype and phenotype.
    Ged C; Moreau-Gaudry F; Richard E; Robert-Richard E; de Verneuil H
    Cell Mol Biol (Noisy-le-grand); 2009 Feb; 55(1):53-60. PubMed ID: 19268002
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Two brothers with mild congenital erythropoietic porphyria due to a novel genotype.
    Berry AA; Desnick RJ; Astrin KH; Shabbeer J; Lucky AW; Lim HW
    Arch Dermatol; 2005 Dec; 141(12):1575-9. PubMed ID: 16365260
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Identification of mutations in the uroporphyrinogen III cosynthase gene in German patients with congenital erythropoietic porphyria.
    Wiederholt T; Poblete-Gutiérrez P; Gardlo K; Goerz G; Bolsen K; Merk HF; Frank J
    Physiol Res; 2006; 55 Suppl 2():S85-92. PubMed ID: 17298225
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Congenital erythropoietic porphyria: bringing evidence-based practice to a rare disease.
    Sarkany R
    Br J Dermatol; 2012 Oct; 167(4):709. PubMed ID: 23013311
    [No Abstract]   [Full Text] [Related]  

  • 12. Congenital erythropoietic porphyria: advances in pathogenesis and treatment.
    Desnick RJ; Astrin KH
    Br J Haematol; 2002 Jun; 117(4):779-95. PubMed ID: 12060112
    [No Abstract]   [Full Text] [Related]  

  • 13. Congenital erythropoietic porphyria: a novel homozygous mutation in a Japanese patient.
    Rogounovitch T; Takamura N; Hombrados I; Morel C; Tanaka T; Kameyoshi Y; Shimizu-Yoshida Y; de Verneuil H; Yamashita S
    J Invest Dermatol; 2000 Dec; 115(6):1156. PubMed ID: 11121156
    [No Abstract]   [Full Text] [Related]  

  • 14. [Congenital erythropoietic porphyria].
    Tanigawa K; Takamura N; Yamashita S
    Nihon Rinsho; 1995 Jun; 53(6):1422-6. PubMed ID: 7616657
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene.
    Xu W; Warner CA; Desnick RJ
    J Clin Invest; 1995 Feb; 95(2):905-12. PubMed ID: 7860775
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene.
    Shady AA; Colby BR; Cunha LF; Astrin KH; Bishop DF; Desnick RJ
    Br J Haematol; 2002 Jun; 117(4):980-7. PubMed ID: 12060141
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A systematic analysis of the mutations of the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.
    Fontanellas A; Bensidhoum M; Enriquez de Salamanca R; Moruno Tirado A; de Verneuil H; Ged C
    Eur J Hum Genet; 1996; 4(5):274-82. PubMed ID: 8946173
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A molecular study of congenital erythropoietic porphyria in cattle.
    Agerholm JS; Thulstrup PW; Bjerrum MJ; Bendixen C; Jørgensen CB; Fredholm M
    Anim Genet; 2012 Apr; 43(2):210-5. PubMed ID: 22404357
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Congenital erythropoietic porphyria: report of a novel mutation with absence of clinical manifestations in a homozygous mutant sibling.
    Ged C; Mégarbané H; Chouery E; Lalanne M; Mégarbané A; de Verneuil H
    J Invest Dermatol; 2004 Sep; 123(3):589-91. PubMed ID: 15304101
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Severe neonatal congenital erythropoietic porphyria.
    Hogeling M; Nakano T; Dvorak CC; Maguiness S; Frieden IJ
    Pediatr Dermatol; 2011; 28(4):416-20. PubMed ID: 21362030
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.