BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

175 related articles for article (PubMed ID: 35923227)

  • 21. Antisense oligonucleotide-based therapy in human erythropoietic protoporphyria.
    Oustric V; Manceau H; Ducamp S; Soaid R; Karim Z; Schmitt C; Mirmiran A; Peoc'h K; Grandchamp B; Beaumont C; Lyoumi S; Moreau-Gaudry F; Guyonnet-Dupérat V; de Verneuil H; Marie J; Puy H; Deybach JC; Gouya L
    Am J Hum Genet; 2014 Apr; 94(4):611-7. PubMed ID: 24680888
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria.
    Wiman A; Floderus Y; Harper P
    J Hum Genet; 2003; 48(2):70-6. PubMed ID: 12601550
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Erythropoietic Protoporphyria and X-Linked Protoporphyria: pathophysiology, genetics, clinical manifestations, and management.
    Balwani M
    Mol Genet Metab; 2019 Nov; 128(3):298-303. PubMed ID: 30704898
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Erythropoietic protoporphyria a clinical and molecular study from Lebanon: Ferrochelatase a potential tumor suppressor gene in colon cancer.
    Kadara H; Nemer G; Safi R; Rebeiz N; Daou L; Delbani D; Btadini W; Abbas O; Tofaili M; Bitar F; Kibbi AG; Shimomura Y; Kurban M
    Clin Genet; 2017 Nov; 92(5):495-502. PubMed ID: 28075030
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. 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]  

  • 27. Mutations in the iron-sulfur cluster ligands of the human ferrochelatase lead to erythropoietic protoporphyria.
    Schneider-Yin X; Gouya L; Dorsey M; Rüfenacht U; Deybach JC; Ferreira GC
    Blood; 2000 Aug; 96(4):1545-9. PubMed ID: 10942404
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation.
    Gouya L; Puy H; Lamoril J; Da Silva V; Grandchamp B; Nordmann Y; Deybach JC
    Blood; 1999 Mar; 93(6):2105-10. PubMed ID: 10068685
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A pilot study of oral iron therapy in erythropoietic protoporphyria and X-linked protoporphyria.
    Balwani M; Naik H; Overbey JR; Bonkovsky HL; Bissell DM; Wang B; Phillips JD; Desnick RJ; Anderson KE
    Mol Genet Metab Rep; 2022 Dec; 33():100939. PubMed ID: 36406817
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Mild iron deficiency does not ameliorate the phenotype of a murine erythropoietic protoporphyria model.
    Schmidt PJ; Hollowell ML; Fitzgerald K; Butler JS; Fleming MD
    Am J Hematol; 2020 May; 95(5):492-496. PubMed ID: 31990410
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. A Novel Mutation in the FECH Gene in a Czech Family with Erythropoietic Protoporphyria and a Population Study of IVS3-48C Variant Contributing to the Disease.
    Farrag MS; Kučerová J; Šlachtová L; Šeda O; Šperl J; Martásek P
    Folia Biol (Praha); 2015; 61(6):227-32. PubMed ID: 26789144
    [TBL] [Abstract][Full Text] [Related]  

  • 33. The role of ClpX in erythropoietic protoporphyria.
    Whitman JC; Paw BH; Chung J
    Hematol Transfus Cell Ther; 2018; 40(2):182-188. PubMed ID: 30057992
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. Genotypic determinants of phenotype in North American patients with erythropoietic protoporphyria.
    Risheg H; Chen FP; Bloomer JR
    Mol Genet Metab; 2003; 80(1-2):196-206. PubMed ID: 14567969
    [TBL] [Abstract][Full Text] [Related]  

  • 36. The essential role of the transporter ABCG2 in the pathophysiology of erythropoietic protoporphyria.
    Wang P; Sachar M; Lu J; Shehu AI; Zhu J; Chen J; Liu K; Anderson KE; Xie W; Gonzalez FJ; Klaassen CD; Ma X
    Sci Adv; 2019 Sep; 5(9):eaaw6127. PubMed ID: 31555729
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Biochemical abnormality in erythropoietic protoporphyria: cause and consequences.
    Bloomer JR; Wang Y; Singhal A; Risheg H
    J Pediatr Gastroenterol Nutr; 2006 Jul; 43 Suppl 1():S36-40. PubMed ID: 16819399
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Disturbed iron metabolism in erythropoietic protoporphyria and association of GDF15 and gender with disease severity.
    Barman-Aksoezen J; Girelli D; Aurizi C; Schneider-Yin X; Campostrini N; Barbieri L; Minder EI; Biolcati G
    J Inherit Metab Dis; 2017 May; 40(3):433-441. PubMed ID: 28185024
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. Cimetidine for erythropoietic protoporphyria.
    Heerfordt IM; Lerche CM; Wulf HC
    Photodiagnosis Photodyn Ther; 2022 Jun; 38():102793. PubMed ID: 35245673
    [TBL] [Abstract][Full Text] [Related]  

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