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 *

148 related articles for article (PubMed ID: 32762549)

  • 1. Validation of the Hemochromatosis (2SNP+) Direct EUROArray Assay for the Molecular Diagnosis of
    Poon KS; Lee CD; Kok NT; Tan KM
    Genet Test Mol Biomarkers; 2020 Sep; 24(9):608-611. PubMed ID: 32762549
    [No Abstract]   [Full Text] [Related]  

  • 2. An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1.
    Dupradeau FY; Pissard S; Coulhon MP; Cadet E; Foulon K; Fourcade C; Goossens M; Case DA; Rochette J
    Hum Mutat; 2008 Jan; 29(1):206. PubMed ID: 18157833
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutation analysis of the HFE gene in German hemochromatosis patients and controls using automated SSCP-based capillary electrophoresis and a new PCR-ELISA technique.
    Hellerbrand C; Bosserhoff AK; Seegers S; Lingner G; Wrede C; Lock G; Schölmerich J; Büttner R
    Scand J Gastroenterol; 2001 Nov; 36(11):1211-6. PubMed ID: 11686223
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Sample-to-SNP kit: a reliable, easy and fast tool for the detection of HFE p.H63D and p.C282Y variations associated to hereditary hemochromatosis.
    Nielsen PB; Petersen MS; Ystaas V; Andersen RV; Hansen KM; Blaabjerg V; Refstrup M
    Gene; 2012 Oct; 507(1):79-84. PubMed ID: 22735619
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Hereditary hemochromatosis in a Brazilian university hospital in São Paulo State (1990-2000).
    Martinelli AL; Filho R; Cruz S; Franco R; Tavella M; Secaf M; Ramalho L; Zucoloto S; Rodrigues S; Zago M
    Genet Mol Res; 2005 Mar; 4(1):31-8. PubMed ID: 15841433
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Simultaneous detection of HFE C282Y, H63D and S65C mutations associated with type 1 haemochromatosis using a multiplex luminex bead assay.
    Cardoso SP; Patel R; Brown C; Navarrete C
    Tissue Antigens; 2011 Sep; 78(3):171-7. PubMed ID: 21736562
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Validation of an unlabeled probe melting analysis assay combined with high-throughput extractions for genotyping of the most common variants in HFE-associated hereditary hemochromatosis, C282Y, H63D, and S65C.
    Sumner K; Hubley L; Pont-Kingdon G; Mitchell S; Wayman T; Wilson A; Meadows C; Elenitoba-Johnson K; Pattison D; Dobrowolski S; Best H; Lyon E
    Genet Test Mol Biomarkers; 2012 Jul; 16(7):656-60. PubMed ID: 22364140
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Simultaneous detection of the C282Y, H63D and S65C mutations in the hemochromatosis gene using quenched-FRET real-time PCR.
    Moysés CB; Moreira ES; Asprino PF; Guimarães GS; Alberto FL
    Braz J Med Biol Res; 2008 Oct; 41(10):833-8. PubMed ID: 19030706
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Molecular diagnosis of hereditary hemochromatosis: application of a newly-developed reverse-hybridization assay in the South African population.
    Kotze MJ; de Villiers JN; Bouwens CS; Warnich L; Zaahl MG; van der Merwe S; Oberkanins C
    Clin Genet; 2004 Apr; 65(4):317-21. PubMed ID: 15025725
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genotyping of the hemochromatosis HFE p.H63D and p.C282Y mutations by high-resolution melting with the Rotor-Gene 6000® instrument.
    Santos PC; Soares RA; Krieger JE; Guerra-Shinohara EM; Pereira AC
    Clin Chem Lab Med; 2011 Oct; 49(10):1633-6. PubMed ID: 21679129
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network.
    Gallego CJ; Burt A; Sundaresan AS; Ye Z; Shaw C; Crosslin DR; Crane PK; Fullerton SM; Hansen K; Carrell D; Kuivaniemi H; Derr K; de Andrade M; McCarty CA; Kitchner TE; Ragon BK; Stallings SC; Papa G; Bochenek J; Smith ME; Aufox SA; Pacheco JA; Patel V; Friesema EM; Erwin AL; Gottesman O; Gerhard GS; Ritchie M; Motulsky AG; Kullo IJ; Larson EB; Tromp G; Brilliant MH; Bottinger E; Denny JC; Roden DM; Williams MS; Jarvik GP
    Am J Hum Genet; 2015 Oct; 97(4):512-20. PubMed ID: 26365338
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Carriers of the Complex Allele HFE c.[187C>G;340+4T>C] Have Increased Risk of Iron Overload in São Miguel Island Population (Azores, Portugal).
    Branco CC; Gomes CT; De Fez L; Bulhões S; Brilhante MJ; Pereirinha T; Cabral R; Rego AC; Fraga C; Miguel AG; Brasil G; Macedo P; Mota-Vieira L
    PLoS One; 2015; 10(10):e0140228. PubMed ID: 26501199
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Prevalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controls.
    Sánchez M; Bruguera M; Bosch J; Rodés J; Ballesta F; Oliva R
    J Hepatol; 1998 Nov; 29(5):725-8. PubMed ID: 9833909
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Highly accurate molecular genetic testing for HFE hereditary hemochromatosis: results from 10 years of blinded proficiency surveys by the College of American Pathologists.
    Press RD; Eickelberg G; McDonald TJ; Halley J; Long T; Tafe LJ; Weck KE
    Genet Med; 2016 Dec; 18(12):1206-1213. PubMed ID: 27124787
    [TBL] [Abstract][Full Text] [Related]  

  • 15. HFE mutations and hemochromatosis in Danish patients admitted for HFE genotyping.
    Koefoed P; Dalhoff K; Dissing J; Kramer I; Milman N; Pedersen P; Simonsen K; Tygstrup N; Nielsen FC
    Scand J Clin Lab Invest; 2002; 62(7):527-35. PubMed ID: 12512743
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Hereditary hemochromatosis: mutations in genes involved in iron homeostasis in Brazilian patients.
    Santos PC; Cançado RD; Pereira AC; Schettert IT; Soares RA; Pagliusi RA; Hirata RD; Hirata MH; Teixeira AC; Figueiredo MS; Chiattone CS; Krieger JE; Guerra-Shinohara EM
    Blood Cells Mol Dis; 2011 Apr; 46(4):302-7. PubMed ID: 21411349
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Comprehensive hereditary hemochromatosis genotyping.
    Jones DC; Young NT; Pigott C; Fuggle SV; Barnardo MC; Marshall SE; Bunce M
    Tissue Antigens; 2002 Dec; 60(6):481-8. PubMed ID: 12542741
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Differential HFE allele expression in hemochromatosis heterozygotes.
    Rosmorduc O; Poupon R; Nion I; Wendum D; Feder J; Béréziat G; Hermelin B
    Gastroenterology; 2000 Oct; 119(4):1075-86. PubMed ID: 11040194
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Prevalence of C282Y, H63D, and S65C mutations in hereditary HFE-hemochromatosis gene in Lithuanian population.
    Kucinskas L; Juzenas S; Sventoraityte J; Cedaviciute R; Vitkauskiene A; Kalibatas V; Kondrackiene J; Kupcinskas L
    Ann Hematol; 2012 Apr; 91(4):491-5. PubMed ID: 21947086
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Frequency of common HFE variants in the Saudi population: a high throughput molecular beacon-based study.
    Alsmadi OA; Al-Kayal F; Al-Hamed M; Meyer BF
    BMC Med Genet; 2006 May; 7():43. PubMed ID: 16672055
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.