BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

37 related articles for article (PubMed ID: 1301930)

  • 1. A comprehensive scanning method for rapid detection of beta-globin gene mutations and polymorphisms.
    Ghanem N; Girodon E; Vidaud M; Martin J; Fanen P; Plassa F; Goossens M
    Hum Mutat; 1992; 1(3):229-39. PubMed ID: 1301930
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Detection of 100% of mutations in 124 individuals using a standard UV/Vis microplate reader: a novel concept for mutation scanning.
    Tabone T; Sallmann G; Webb E; Cotton RG
    Nucleic Acids Res; 2006 Mar; 34(6):e45. PubMed ID: 16554551
    [TBL] [Abstract][Full Text] [Related]  

  • 3. β-Thalassemia pathogenic variants in a cohort of children from the East African coast.
    Macharia AW; Mochamah G; Uyoga S; Ndila CM; Nyutu G; Tendwa M; Nyatichi E; Makale J; Ware RE; Williams TN
    Mol Genet Genomic Med; 2020 Jul; 8(7):e1294. PubMed ID: 32394645
    [TBL] [Abstract][Full Text] [Related]  

  • 4. An overview of mutation detection methods in genetic disorders.
    Mahdieh N; Rabbani B
    Iran J Pediatr; 2013 Aug; 23(4):375-88. PubMed ID: 24427490
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Molecular Genetic Characterization of β-Thalassemia and Sickle Cell Syndrome in the Albanian Population.
    Babameto-Laku A; Mitre A; Berisha S; Mokini V; Roko D
    Balkan J Med Genet; 2011 Jun; 14(1):45-50. PubMed ID: 24052702
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Beta globin frameworks in thalassemia major patients from north iran.
    Akhavan-Niaki H; Banihashemi A; Azizi M
    Iran J Pediatr; 2012 Sep; 22(3):297-302. PubMed ID: 23399541
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Efficient detection of Mediterranean β-thalassemia mutations by multiplex single-nucleotide primer extension.
    Atanasovska B; Bozhinovski G; Plaseska-Karanfilska D; Chakalova L
    PLoS One; 2012; 7(10):e48167. PubMed ID: 23110203
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A melting curve analysis--based PCR assay for one-step genotyping of β-thalassemia mutations a multicenter validation.
    Xiong F; Huang Q; Chen X; Zhou Y; Zhang X; Cai R; Chen Y; Xie J; Feng S; Wei X; Xiao Q; Zhang T; Luo S; Yang X; Hao Y; Qu Y; Li Q; Xu X
    J Mol Diagn; 2011 Jul; 13(4):427-35. PubMed ID: 21704277
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Control of human beta-globin mRNA stability and its impact on beta-thalassemia phenotype.
    Peixeiro I; Silva AL; Romão L
    Haematologica; 2011 Jun; 96(6):905-13. PubMed ID: 21357703
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The epidemiology of abnormal hemoglobins in Mediterranean high-level athletes.
    Touhami I; Fattoum S; Bibi A; Siala H; Messaoud T; Koubaa D; Mankai R; Bartagi Z; Le Gallais D
    Eur J Appl Physiol; 2010 Apr; 108(6):1075-81. PubMed ID: 20013288
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Simple, efficient, and cost-effective multiplex genotyping with matrix assisted laser desorption/ionization time-of-flight mass spectrometry of hemoglobin beta gene mutations.
    Thongnoppakhun W; Jiemsup S; Yongkiettrakul S; Kanjanakorn C; Limwongse C; Wilairat P; Vanasant A; Rungroj N; Yenchitsomanus PT
    J Mol Diagn; 2009 Jul; 11(4):334-46. PubMed ID: 19460936
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The Xmn1 polymorphic site 5' to the (G)gamma gene and its correlation to the (G)gamma:(A)gamma ratio, age at first blood transfusion and clinical features in beta-thalassemia patients from Western Iran.
    Nemati H; Rahimi Z; Bahrami G
    Mol Biol Rep; 2010 Jan; 37(1):159-64. PubMed ID: 19444645
    [TBL] [Abstract][Full Text] [Related]  

  • 13. PCR-SSCP: a method for the molecular analysis of genetic diseases.
    Kakavas VK; Plageras P; Vlachos TA; Papaioannou A; Noulas VA
    Mol Biotechnol; 2008 Feb; 38(2):155-63. PubMed ID: 18219595
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Identification of the four most common beta-globin gene mutations in Greek beta-thalassemic patients and carriers by PCR-SSCP: advantages and limitations of the method.
    Kakavas KV; Noulas A; Chalkias C; Hadjichristodoulou C; Georgiou I; Georgatsou E; Bonanou S
    J Clin Lab Anal; 2006; 20(1):1-7. PubMed ID: 16470532
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A one-step real-time PCR assay for rapid prenatal diagnosis of sickle cell disease and detection of maternal contamination.
    Costa C; Pissard S; Girodon E; Huot D; Goossens M
    Mol Diagn; 2003; 7(1):45-8. PubMed ID: 14529320
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Germline mosaicism for an alanine to valine substitution at residue beta 140 in hemoglobin Puttelange, a new variant with high oxygen affinity.
    Wajcman H; Girodon E; Promé D; North ML; Plassa F; Duwig I; Kister J; Bergerat JP; Oberling F; Lampert E
    Hum Genet; 1995 Dec; 96(6):711-6. PubMed ID: 8522332
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Comparison of the protein and DNA approaches for the characterization of a beta-globin chain variant, hemoglobin Cocody [beta 21 (B3) Asp--->Asn], in a Caucasian patient.
    Aguilar-Martinez P; Galacteros F; Schved JF; Blouquit Y; Gris JC; Demaille J; Claustres M
    Ann Hematol; 1993 May; 66(5):269-72. PubMed ID: 8507722
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Rapid detection of single nucleotide deletions: application to the beta 6 (-A) mutation of the beta-globin gene and to cystic fibrosis.
    Romey MC; Aguilar-Martinez P; Demaille J; Claustres M
    Hum Genet; 1993 Dec; 92(6):627-8. PubMed ID: 8262525
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Population study of a sequence polymorphism in intron 2 of the human beta-globin gene.
    Braun A; Ambach H; Bichlmaier R; Kammerer S; Roscher AA
    Hum Genet; 1995 Mar; 95(3):352. PubMed ID: 7868132
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Rapid molecular characterization of mutations leading to unstable hemoglobin beta-chain variants.
    Girodon E; Ghanem N; Vidaud M; Riou J; Martin J; Galactéros F; Goossens M
    Ann Hematol; 1992 Oct; 65(4):188-92. PubMed ID: 1420507
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 2.