BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

160 related articles for article (PubMed ID: 25251786)

  • 1. Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis.
    Di Pierro E; Russo R; Karakas Z; Brancaleoni V; Gambale A; Kurt I; Winter SS; Granata F; Czuchlewski DR; Langella C; Iolascon A; Cappellini MD
    Eur J Haematol; 2015 Jun; 94(6):491-7. PubMed ID: 25251786
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria.
    Phillips JD; Steensma DP; Pulsipher MA; Spangrude GJ; Kushner JP
    Blood; 2007 Mar; 109(6):2618-21. PubMed ID: 17148589
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria.
    To-Figueras J; Ducamp S; Clayton J; Badenas C; Delaby C; Ged C; Lyoumi S; Gouya L; de Verneuil H; Beaumont C; Ferreira GC; Deybach JC; Herrero C; Puy H
    Blood; 2011 Aug; 118(6):1443-51. PubMed ID: 21653323
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutational analysis of uroporphyrinogen III cosynthase gene in Iranian families with congenital erythropoietic porphyria.
    Moghbeli M; Maleknejad M; Arabi A; Abbaszadegan MR
    Mol Biol Rep; 2012 Jun; 39(6):6731-5. PubMed ID: 22350154
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Very Early Diagnosis and Management of Congenital Erythropoietic Porphyria.
    Desjardins MP; Naccache L; Hébert A; Auger I; Teira P; Pelland-Marcotte MC
    Clin Pediatr (Phila); 2023 Jun; 62(5):399-403. PubMed ID: 36217751
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Therapeutic potential of proteasome inhibitors in congenital erythropoietic porphyria.
    Blouin JM; Duchartre Y; Costet P; Lalanne M; Ged C; Lain A; Millet O; de Verneuil H; Richard E
    Proc Natl Acad Sci U S A; 2013 Nov; 110(45):18238-43. PubMed ID: 24145442
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.
    Weiss Y; Balwani M; Chen B; Yasuda M; Nazarenko I; Desnick RJ
    Mol Genet Metab; 2019 Nov; 128(3):358-362. PubMed ID: 30454868
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases.
    Katugampola RP; Badminton MN; Finlay AY; Whatley S; Woolf J; Mason N; Deybach JC; Puy H; Ged C; de Verneuil H; Hanneken S; Minder E; Schneider-Yin X; Anstey AV
    Br J Dermatol; 2012 Oct; 167(4):901-13. PubMed ID: 22816431
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Successful hematopoietic stem cell transplantation in a child with congenital erythropoietic porphyria due to a mutation in GATA-1.
    Karakurt N; Tavil B; Azik F; Tunc B; Karakas Z; Uckan-Cetinkaya D
    Pediatr Transplant; 2015 Nov; 19(7):803-5. PubMed ID: 26392207
    [No Abstract]   [Full Text] [Related]  

  • 13. Molecular genetics of congenital erythropoietic porphyria.
    Desnick RJ; Glass IA; Xu W; Solis C; Astrin KH
    Semin Liver Dis; 1998; 18(1):77-84. PubMed ID: 9516681
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [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]  

  • 15. Successful match-unrelated donor bone marrow transplantation for congenital erythropoietic porphyria (Günther disease).
    Dupuis-Girod S; Akkari V; Ged C; Galambrun C; Kebaïli K; Deybach JC; Claudy A; Geburher L; Philippe N; de Verneuil H; Bertrand Y
    Eur J Pediatr; 2005 Feb; 164(2):104-7. PubMed ID: 15703981
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Congenital erythropoietic porphyria presenting with recurrent epistaxis: a case report.
    Khan J; Hashmi MU; Noor N; Khan AJ; Shrateh ON; Tahir MJ
    J Med Case Rep; 2023 Nov; 17(1):472. PubMed ID: 37957719
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Neonatal hemolytic anemia does not always indicate thalassemia: a case report.
    Al-Harazi AA; Al-Eryani BM; Al-Sharafi BA
    BMC Res Notes; 2017 Sep; 10(1):476. PubMed ID: 28899405
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation.
    Martinez Peinado C; Díaz de Heredia C; To-Figueras J; Arias-Santiago S; Nogueras P; Elorza I; Olivé T; Bádenas C; Moreno MJ; Tercedor J; Herrero C
    Pediatr Dermatol; 2013; 30(4):484-9. PubMed ID: 23557135
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.