BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

504 related articles for article (PubMed ID: 17654075)

  • 1. Hb L'Aquila [beta106(G8)Leu-->Val, CTG-->GTG]: a novel thalassemic hemoglobin variant.
    Amato A; Cappabianca MP; Ponzini D; Rinaldi S; Biagio PD; Foglietta E; Grisanti P; Mastropietro F
    Hemoglobin; 2007; 31(3):375-8. PubMed ID: 17654075
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel mutation of the alpha2-globin causing alpha(+)-thalassemia: Hb Plasencia [alpha125(H8)Leu--Arg (alpha2).
    Martin G; Villegas A; González FA; Ropero P; Hojas R; Polo M; Mateo M; Salvador M; Benavente C
    Hemoglobin; 2005; 29(2):113-7. PubMed ID: 15921163
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Distinct phenotypic expression associated with a new hyperunstable alpha globin variant (Hb heraklion, alpha1cd37(C2)Pro>0): comparison to other alpha-thalassemic hemoglobinopathies.
    Traeger-Synodinos J; Papassotiriou I; Metaxotou-Mavrommati A; Vrettou C; Stamoulakatou A; Kanavakis E
    Blood Cells Mol Dis; 2000 Aug; 26(4):276-84. PubMed ID: 11042028
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Hb Niigata [beta1(NA1)Val-->Leu] in a Romanian individual resulting from another nucleotide substitution than that found in the Japanese.
    Moradkhani K; Henthorn J; Riou J; Phelan L; Préhu C; Wajcman H
    Hemoglobin; 2007; 31(4):477-82. PubMed ID: 17994382
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Hb St. Jozef, A Val-->Leu N-terminal mutation leading to retention of the methionine, and partial acetylation found in the globin gene in Cis with a -alpha3.7 thalassemia deletion.
    Harteveld CL; Versteegh FG; van Leer EH; Starreveld JS; Kok PJ; van Rooijen-Nijdam I; van Delft P; Zanella-Cleon I; Becchi M; Wajcman H; Giordano PC
    Hemoglobin; 2007; 31(3):313-23. PubMed ID: 17654068
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Dominantly Inherited beta-Thalassemia.
    Efremov GD
    Hemoglobin; 2007; 31(2):193-207. PubMed ID: 17486503
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Hb Bleuland [alpha108(G15)Thr-->Asn, ACC-->AAC (alpha2)]: a new abnormal hemoglobin associated with a mild alpha-thalassemia phenotype.
    Harteveld CL; Versteegh FG; Kok PJ; van Rooijen-Nijdam IH; van Delft P; Giordano PC
    Hemoglobin; 2006; 30(3):349-54. PubMed ID: 16840225
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Defective mRNA levels are responsible for a beta-thalassemia phenotype associated with Hb Federico II, a novel hemoglobin variant [beta-106 (G8) Leu->Val].
    Grosso M; Palumbo I; Morelli E; Puzone S; Sessa R; Izzo P
    Haematologica; 2008 Jul; 93(7):1096-8. PubMed ID: 18591626
    [No Abstract]   [Full Text] [Related]  

  • 9. Hb Marineo [beta70(E14)Ala-->Val]: a silent hemoglobin variant with a mutation within the heme pocket.
    Giambona A; Vinciguerra M; Cassarà F; Li Muli R; Leto F; Passarello C; Wajcman H; Maggio A
    Hemoglobin; 2006; 30(2):139-48. PubMed ID: 16798637
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Hb KOCHI [beta141(H19)Leu-->Val (g.1404 C-->G); 144-->146(HC1-3)Lys-Tyr-His-->0 (g.1413 A-->T)]: a new variant with increased oxygen affinity.
    Miyazaki A; Nakanishi T; Shimizu A; Mizobuchi M; Yamada Y; Imai K
    Hemoglobin; 2005; 29(1):1-10. PubMed ID: 15768550
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Two new delta-globin mutations: Hb A2-Ninive [delta133(H11)Val-Ala] and a delta(+)-thalassemia mutation [-31 (A --> G)] in the TATA box of the delta-globin gene.
    Frischknecht H; Dutly F
    Hemoglobin; 2005; 29(2):151-4. PubMed ID: 15921167
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutational spectrum of delta-globin gene in the Portuguese population.
    Morgado A; Picanço I; Gomes S; Miranda A; Coucelo M; Seuanes F; Seixas MT; Romão L; Faustino P
    Eur J Haematol; 2007 Nov; 79(5):422-8. PubMed ID: 17916081
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Erythrocytosis due to a combination of the high oxygen affinity hemoglobin variant, Hb Olympia [beta20(B2)Val-->Met] with beta- and alpha-thalassemia mutations: first case in the literature.
    Kalotychou V; Tzanetea R; Konstantopoulos K; Papassotiriou I; Rombos I
    Hemoglobin; 2010; 34(4):383-8. PubMed ID: 20642336
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Hb Florida: a novel elongated C-terminal beta-globin variant causing dominant beta-thalassemia phenotype.
    Weinstein BI; Erramouspe B; Albuquerque DM; Oliveira DM; Kimura EM; Costa FF; Sonati MF
    Am J Hematol; 2006 May; 81(5):358-60. PubMed ID: 16628732
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A novel beta-globin structural mutant, Hb Brescia (beta 114 Leu-Pro), causing a severe beta-thalassemia intermedia phenotype.
    Murru S; Poddie D; Sciarratta GV; Agosti S; Baffico M; Melevendi C; Pirastu M; Cao A
    Hum Mutat; 1992; 1(2):124-8. PubMed ID: 1301199
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Hb Southampton [beta106(G8)Leu-->Pro, CTG-->CCG] in an Argentinean boy.
    Eandi Eberle S; Noguera NI; Sciuccati G; Bonduel M; Díaz L; Staciuk R; Feliu-Torres A
    Hemoglobin; 2006; 30(3):401-3. PubMed ID: 16840233
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Two missense mutations in the beta-globin gene can cause severe beta thalassemia. Hemoglobin Medicine Lake (beta 32[B14]leucine-->glutamine; 98 [FG5] valine-->methionine).
    Coleman MB; Lu ZH; Smith CM; Adams JG; Harrell A; Plonczynski M; Steinberg MH
    J Clin Invest; 1995 Feb; 95(2):503-9. PubMed ID: 7860732
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Severe Thalassemia Caused by Hb Zunyi [β147(HC3)Stop→Gln;
    Su Q; Chen S; Wu L; Tian R; Yang X; Huang X; Chen Y; Peng Z; Chen J
    Hemoglobin; 2019 Jan; 43(1):7-11. PubMed ID: 31084366
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Hb A2-Pasteur-Tunis [delta59(E3)Lys-->Asn, AAG-->AAC]: a new delta chain variant detected by DNA sequencing in a Tunisian carrier of the codon 39 (C-->T) beta0-Thalassemia mutation.
    Moumni I; Zorai A; Daoued BB; Mosbahi I; Omar S; Kaabachi N; Dellagi K; Abbes S
    Hemoglobin; 2007; 31(1):23-9. PubMed ID: 17365002
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Characterization of a new hemoglobin variant: Hb Badalona (beta31[B13]Leu-->Val).
    Junca J; Villegas A; Ropero P; González FA; Motos A; Valverde F
    Ann Hematol; 2002 Apr; 81(4):179-81. PubMed ID: 11976817
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 26.