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 *

170 related articles for article (PubMed ID: 9211197)

  • 21. 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]  

  • 22. Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation.
    Tezcan I; Xu W; Gurgey A; Tuncer M; Cetin M; Oner C; Yetgin S; Ersoy F; Aizencang G; Astrin KH; Desnick RJ
    Blood; 1998 Dec; 92(11):4053-8. PubMed ID: 9834209
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Advances in understanding the pathogenesis of congenital erythropoietic porphyria.
    Di Pierro E; Brancaleoni V; Granata F
    Br J Haematol; 2016 May; 173(3):365-79. PubMed ID: 26969896
    [TBL] [Abstract][Full Text] [Related]  

  • 24. [Allogeneic bone marrow transplantation in congenital erythropoietic porphyria. Gunther's disease].
    Lagarde C; Hamel-Teillac D; De Prost Y; Blanche S; Thomas C; Fischer A; Nordmann Y; Ged C; De Verneuil H
    Ann Dermatol Venereol; 1998 Feb; 125(2):114-7. PubMed ID: 9747227
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Correction of the enzyme deficit of bone marrow cells in congenital erythropoietic porphyria by retroviral gene transfer.
    Moreau-Gaudry F; Barbot C; Mazurier F; Mahon FX; Reiffers J; Ged C; de Verneuil H
    Hematol Cell Ther; 1996 Apr; 38(2):217-20. PubMed ID: 8932010
    [No Abstract]   [Full Text] [Related]  

  • 26. Identification of two new mutations in congenital erythropoietic porphyria.
    Bensidhoum M; Ged C; Hombrados I; Moreau-Gaudry F; Hift RS; Meissner P; Sturrock ED; de Verneuil H
    Eur J Hum Genet; 1995; 3(2):102-7. PubMed ID: 7552139
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Erythropoietic porphyrias: animal models and update in gene-based therapies.
    Richard E; Robert-Richard E; Ged C; Moreau-Gaudry F; de Verneuil H
    Curr Gene Ther; 2008 Jun; 8(3):176-86. PubMed ID: 18537592
    [TBL] [Abstract][Full Text] [Related]  

  • 28. [Congenital erythropoeietic porphyria treated by haematopoietic stem cell allograft].
    Lebreuilly-Sohyer I; Morice A; Acher A; Dompmartin A; Clement C; de Verneuil H; Ged C; Leroy D; Verneuil L
    Ann Dermatol Venereol; 2010 Oct; 137(10):635-9. PubMed ID: 20932444
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions.
    Bishop DF; Johansson A; Phelps R; Shady AA; Ramirez MC; Yasuda M; Caro A; Desnick RJ
    Am J Hum Genet; 2006 Apr; 78(4):645-58. PubMed ID: 16532394
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Novel point mutation in the uroporphyrinogen III synthase gene causes congenital erythropoietic porphyria of a Japanese family.
    Takamura N; Hombrados I; Tanigawa K; Namba H; Nagayama Y; de Verneuil H; Yamashita S
    Am J Med Genet; 1997 Jun; 70(3):299-302. PubMed ID: 9188670
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Congenital erythropoietic porphyria: Recent advances.
    Erwin AL; Desnick RJ
    Mol Genet Metab; 2019 Nov; 128(3):288-297. PubMed ID: 30685241
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. Uroporphyrinogen III synthase mutations related to congenital erythropoietic porphyria identify a key helix for protein stability.
    Fortian A; Castaño D; Ortega G; Laín A; Pons M; Millet O
    Biochemistry; 2009 Jan; 48(2):454-61. PubMed ID: 19099412
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. Uroporphyrinogen-III synthase: molecular cloning, nucleotide sequence, expression of a mouse full-length cDNA, and its localization on mouse chromosome 7.
    Xu W; Kozak CA; Desnick RJ
    Genomics; 1995 Apr; 26(3):556-62. PubMed ID: 7607680
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Heterogeneity of mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.
    Boulechfar S; Da Silva V; Deybach JC; Nordmann Y; Grandchamp B; de Verneuil H
    Hum Genet; 1992 Jan; 88(3):320-4. PubMed ID: 1733834
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. Treatment of severe congenital erythropoietic porphyria by bone marrow transplantation.
    Harada FA; Shwayder TA; Desnick RJ; Lim HW
    J Am Acad Dermatol; 2001 Aug; 45(2):279-82. PubMed ID: 11464191
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Correction of congenital erythropoietic porphyria by bone marrow transplantation.
    Thomas C; Ged C; Nordmann Y; de Verneuil H; Pellier I; Fischer A; Blanche S
    J Pediatr; 1996 Sep; 129(3):453-6. PubMed ID: 8804339
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene.
    Xu W; Astrin KH; Desnick RJ
    Hum Mutat; 1996; 7(3):187-92. PubMed ID: 8829650
    [TBL] [Abstract][Full Text] [Related]  

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