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 *

260 related articles for article (PubMed ID: 17654069)

  • 1. Hb Zoetermeer: a new mutation on the alpha2 gene inducing an Ala-->Ser substitution at codon 21 is possibly associated with a mild thalassemic phenotype.
    Harteveld CL; van Helden WC; Boxma GL; van Delft P; Bakker-Verweij M; Wajcman H; Zanella-Cleon I; Becchi M; Giordano PC
    Hemoglobin; 2007; 31(3):325-32. PubMed ID: 17654069
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. Two new hemoglobin variants: Hb Brem-sur-Mer [beta9(A6)Ser-->Tyr] and Hb Passy [alpha81(F2)Ser-->Pro (alpha2)].
    Lacan P; Moreau M; Becchi M; Zanella-Cleon I; Aubry M; Louis JJ; Couprie N; Francina A
    Hemoglobin; 2005; 29(1):69-75. PubMed ID: 15768558
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Alpha-thalassemia phenotype induced by the new IVS-II-2 (T --> A) splice donor site mutation on the alpha2-globin gene.
    Harteveld CL; Jebbink MC; van der Lely N; van Delft P; Akkermans N; Arkesteyn S; Giordano PC
    Hemoglobin; 2006; 30(1):3-7. PubMed ID: 16540408
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Hb Iberia [α104(G11)Cys → Arg,TGC>CGC (α2) (HBA2:c.313T>C)], a new α-thalassemic hemoglobin variant found in the Iberian Peninsula: report of six cases.
    Bento C; Oliveira AC; Neves J; Gameiro M; Cunha E; Coucelo M; Costa RM; Barbot J; Costa E; Fernández-Lago C; Ribeiro ML
    Hemoglobin; 2012; 36(6):517-25. PubMed ID: 23181747
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The rare Hb Showa-Yakushiji [beta110(G12)Leu-->Pro, CTG-->CCG] in combination with an alpha gene triplication found in a Dutch patient during her first pregnancy examination.
    Giordano PC; Addo-Daaku A; Sander MJ; van Rooijen-Nijdam I; van Delft P; Harteveld CL; Kok PJ
    Hemoglobin; 2007; 31(2):167-71. PubMed ID: 17486498
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. The first case of Hb Groene Hart [alpha119(H2)Pro-->Ser, CCT-->TCT (alpha1)] homozygosity confirms that a thalassemia phenotype is associated with this abnormal hemoglobin variant.
    Giordano PC; Zweegman S; Akkermans N; Arkesteijn SG; van Delft P; Versteegh FG; Wajcman H; Harteveld CL
    Hemoglobin; 2007; 31(2):179-82. PubMed ID: 17486500
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A new alpha chain hemoglobin variant: Hb Al-Hammadi Riyadh [alpha75(EF4)Asp-->Val (alpha2)].
    Burnichon N; Lacan P; Becchi M; Zanella-Cleon I; Aubry M; Mowafy M; Couprie N; Francina A
    Hemoglobin; 2006; 30(2):155-64. PubMed ID: 16798639
    [TBL] [Abstract][Full Text] [Related]  

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

  • 13. 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]  

  • 14. Two new alpha1-globin gene point mutations: Hb Nedlands (HBA1:c.86C>T) [alpha28(B9)Ala-->Val] and Hb Queens Park (HBA1:c.98T>A) [alpha32(B13)Met-->Lys].
    Phylipsen M; Prior JF; Lim E; Lingam N; Finlayson J; Arkesteijn SG; Harteveld CL; Giordano PC
    Hemoglobin; 2010 Jan; 34(2):123-6. PubMed ID: 20353346
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Unstable and thalassemic alpha chain hemoglobin variants: a cause of Hb H disease and thalassemia intermedia.
    Wajcman H; Traeger-Synodinos J; Papassotiriou I; Giordano PC; Harteveld CL; Baudin-Creuza V; Old J
    Hemoglobin; 2008; 32(4):327-49. PubMed ID: 18654884
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Hb Bronovo, a new globin gene mutation at alpha2 103 (His->Leu) associated with an alpha thalassemia phenotype.
    Harteveld CL; Steen G; Vlasveld LT; van Delft P; Giordano PC
    Haematologica; 2006 Apr; 91(4):570-1. PubMed ID: 16533721
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Codon 24 (TAT>TAG) and codon 32 (ATG>AGG) (Hb Rotterdam): two novel alpha2 gene mutations associated with mild alpha-thalassemia found in the same family after newborn screening.
    Giordano PC; Cnossen MH; Joosten AM; Jansen CA; Hakvoort TE; Bakker-Verweij M; Arkesteijn SG; van Delft P; Waye JS; Bouva MJ; Harteveld CL
    Hemoglobin; 2010; 34(4):354-65. PubMed ID: 20642333
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Thalassemic hemoglobinopathies.
    Steinberg MH; Adams JG
    Am J Pathol; 1983 Dec; 113(3):396-409. PubMed ID: 6359893
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Screening of Iranian thalassemic families for the most common deletions of the beta-globin gene cluster.
    Esteghamat F; Imanian H; Azarkeivan A; Pourfarzad F; Almadani N; Najmabadi H
    Hemoglobin; 2007; 31(4):463-9. PubMed ID: 17994380
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.