BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

172 related articles for article (PubMed ID: 31304091)

  • 1. Characterization of a novel pathogenic variant in the
    Kieke MC; Klemm J; Tondin AR; Alencar V; Johnson N; Driver AM; Lentz T; Fischer GJ; Caporale DA; Drury LJ
    Mol Genet Metab Rep; 2019 Sep; 20():100481. PubMed ID: 31304091
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Erythropoietic protoporphyria.
    Lecha M; Puy H; Deybach JC
    Orphanet J Rare Dis; 2009 Sep; 4():19. PubMed ID: 19744342
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria.
    Balwani M; Doheny D; Bishop DF; Nazarenko I; Yasuda M; Dailey HA; Anderson KE; Bissell DM; Bloomer J; Bonkovsky HL; Phillips JD; Liu L; Desnick RJ;
    Mol Med; 2013 Apr; 19(1):26-35. PubMed ID: 23364466
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria.
    Balwani M; Naik H; Anderson KE; Bissell DM; Bloomer J; Bonkovsky HL; Phillips JD; Overbey JR; Wang B; Singal AK; Liu LU; Desnick RJ
    JAMA Dermatol; 2017 Aug; 153(8):789-796. PubMed ID: 28614581
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Inheritance in erythropoietic protoporphyria].
    Schmitt C; Ducamp S; Gouya L; Deybach JC; Puy H
    Pathol Biol (Paris); 2010 Oct; 58(5):372-80. PubMed ID: 20850938
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Erythropoietic protoporphyria: a family study and report of a novel mutation in the FECH gene.
    Morais P; Mota A; Baudrier T; Trigo F; Oliveira JP; Cerqueira R; Palmeiro A; Tavares P; Azevedo F
    Eur J Dermatol; 2011; 21(4):479-83. PubMed ID: 21659066
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy.
    Ventura P; Brancaleoni V; Di Pierro E; Graziadei G; Macrì A; Carmine Guida C; Nicolli A; Rossi MT; Granata F; Fiorentino V; Fustinoni S; Sala R; Pinton PC; Trevisan A; Marchini S; Cuoghi C; Marcacci M; Corradini E; Sorge F; Aurizi C; Savino MG; Cappellini MD; Pietrangelo A
    Eur J Dermatol; 2020 Oct; 30(5):532-540. PubMed ID: 33021473
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Digital PCR (dPCR) analysis reveals that the homozygous c.315-48T>C variant in the FECH gene might cause erythropoietic protoporphyria (EPP).
    Brancaleoni V; Granata F; Missineo P; Fustinoni S; Graziadei G; Di Pierro E
    Mol Genet Metab; 2018 Aug; 124(4):287-296. PubMed ID: 29941360
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Identification of FECH gene multiple variations in two Chinese patients with erythropoietic protoporphyria and a review.
    Long ZB; Wang YW; Yang C; Liu G; Du YL; Nie GJ; Chang YZ; Han B
    J Zhejiang Univ Sci B; 2016 Oct.; 17(10):813-820. PubMed ID: 27704751
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria.
    Rüfenacht UB; Gouya L; Schneider-Yin X; Puy H; Schäfer BW; Aquaron R; Nordmann Y; Minder EI; Deybach JC
    Am J Hum Genet; 1998 Jun; 62(6):1341-52. PubMed ID: 9585598
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. Modeling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice.
    Barman-Aksözen J; C Wiek P; Bansode VB; Koentgen F; Trüb J; Pelczar P; Cinelli P; Schneider-Yin X; Schümperli D; Minder EI
    Dis Model Mech; 2017 Mar; 10(3):225-233. PubMed ID: 28093505
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 9.