246 related articles for article (PubMed ID: 17486500)
1. 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]
2. Description of the phenotypes of 63 heterozygous, homozygous and compound heterozygous patients carrying the Hb Groene Hart [α119(H2)Pro→Ser; HBA1: c.358C>T] variant.
Joly P; Lacan P; Garcia C; Francina A
Hemoglobin; 2014; 38(1):64-6. PubMed ID: 24111644
[TBL] [Abstract][Full Text] [Related]
3. [Association between hemoglobin Groene Hart and hemoglobin J-Paris-I: first case in Spain].
de la Fuente-Gonzalo F; Ropero P; Martínez-Nieto J; Villegas A; González FA; Díaz-Mediavilla J
Med Clin (Barc); 2015 Mar; 144(5):212-5. PubMed ID: 24530052
[TBL] [Abstract][Full Text] [Related]
4. First description in Tunisia of a point mutation at codon 119 (CCT-->TCT) in the alpha1-globin gene: Hb Groene Hart in association with the -alpha3.7 deletion.
Siala H; Ouali F; Messaoud T; Sfar R; Fattoum S
Hemoglobin; 2005; 29(4):263-8. PubMed ID: 16370486
[TBL] [Abstract][Full Text] [Related]
5. Detection of a thalassemic alpha-chain variant (Hemoglobin Groene Hart) by reversed-phase liquid chromatography.
Zanella-Cleon I; Becchi M; Lacan P; Giordano PC; Wajcman H; Francina A
Clin Chem; 2008 Jun; 54(6):1053-9. PubMed ID: 18420733
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Impaired binding of AHSP to alpha chain variants: Hb Groene Hart illustrates a mechanism leading to unstable hemoglobins with alpha thalassemic like syndrome.
Vasseur-Godbillon C; Marden MC; Giordano P; Wajcman H; Baudin-Creuza V
Blood Cells Mol Dis; 2006; 37(3):173-9. PubMed ID: 17052927
[TBL] [Abstract][Full Text] [Related]
8. Hb Groene Hart: a new Pro-->Ser amino acid substitution at position 119 of the alpha1-globin chain is associated with a mild alpha-thalassemia phenotype.
Harteveld CL; van Delft P; Plug R; Versteegh FG; Hagen B; van Rooijen I; Kok PJ; Wajcman H; Kister J; Giordano PC
Hemoglobin; 2002 Aug; 26(3):255-60. PubMed ID: 12403490
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Effect of Mutations on mRNA and Globin Stability: The Cases of Hb Bernalda/Groene Hart and Hb Southern Italy.
Cardiero G; Musollino G; Friscia MG; Testa R; Virruso L; Di Girgenti C; Caldora M; Colella Bisogno R; Gaudiano C; Manco G; Lacerra G
Genes (Basel); 2020 Jul; 11(8):. PubMed ID: 32751969
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. α-Hemoglobin stabilizing protein: a modulating factor in thalassemias?
Wajcman H; Vasseur C; Pissard S; Baudin-Creuza V
Hemoglobin; 2011; 35(5-6):463-8. PubMed ID: 21950764
[TBL] [Abstract][Full Text] [Related]
14. The alpha-hemoglobin stabilizing protein and expression of unstable alpha-Hb variants.
Vasseur C; Domingues-Hamdi E; Brillet T; Marden MC; Baudin-Creuza V
Clin Biochem; 2009 Dec; 42(18):1818-23. PubMed ID: 19482015
[TBL] [Abstract][Full Text] [Related]
15. Further identification of the hyperunstable alpha-globin chain variant Hb Heraklion [codons 36/37 (-CCC); Pro-->0 (alpha1)] in Greek cases with co-inherited alpha+-thalassemia mutations.
Douna V; Papassotiriou I; Metaxotou-Mavrommati A; Stamoulakatou A; Liapi D; Kampourakis D; Tsilimigaki A; Kanavakis E; Traeger-Synodinos J
Hemoglobin; 2008; 32(4):379-85. PubMed ID: 18654888
[TBL] [Abstract][Full Text] [Related]
16. Low output hemoglobins which produce the phenotype of thalassemia.
Adams JG; Steinberg MH
Prog Clin Biol Res; 1981; 55():81-98. PubMed ID: 6895257
[TBL] [Abstract][Full Text] [Related]
17. Two complex associations of an HBD mutation and a rare α hemoglobinopathy.
Joly P; Lacan P; Garcia C; Francina A
Hemoglobin; 2013; 37(5):486-91. PubMed ID: 23806011
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Different hematologic phenotypes are associated with the leftward (-alpha 4.2) and rightward (-alpha 3.7) alpha+-thalassemia deletions.
Bowden DK; Hill AV; Higgs DR; Oppenheimer SJ; Weatherall DJ; Clegg JB
J Clin Invest; 1987 Jan; 79(1):39-43. PubMed ID: 3793931
[TBL] [Abstract][Full Text] [Related]
20. First report on the co-inheritance of (beta) IVS I-1 (G-->T) Thalassemia with the (gamma) CD85 [Phe-->Ser (F1) (TTT-->TCT)] HbA2 Etolia in Iran.
Zeinali S; Mohammad Eram S; Azimifar SB; Lotfi V; Foulady P; Masrouri M
Haematologica; 2006 Jun; 91(6 Suppl):ECR15. PubMed ID: 16785121
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
