124 related articles for article (PubMed ID: 10651741)
1. Dominant beta-thalassaemia: a highly unstable haemoglobin is caused by a novel 6 bp deletion of the beta-globin gene.
Vetter B; Neu-Yilik G; Kohne E; Arnold R; Sinha P; Gaedicke G; Ivancevic V; Kulozik AE
Br J Haematol; 2000 Jan; 108(1):176-81. PubMed ID: 10651741
[TBL] [Abstract][Full Text] [Related]
2. Haemoglobin Lleida: a new alpha 2-globin variant (12 bp deletion) with mild thalassaemic phenotype.
Ayala S; Colomer D; Pujades A; Aymerich M; Vives Corrons JL
Br J Haematol; 1996 Sep; 94(4):639-44. PubMed ID: 8826886
[TBL] [Abstract][Full Text] [Related]
3. Dominantly Inherited beta-Thalassemia.
Efremov GD
Hemoglobin; 2007; 31(2):193-207. PubMed ID: 17486503
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Hemoglobin Cagliari (beta 60 [E4] Val----Glu): a novel unstable thalassemic hemoglobinopathy.
Podda A; Galanello R; Maccioni L; Melis MA; Rosatelli C; Perseu L; Cao A
Blood; 1991 Jan; 77(2):371-5. PubMed ID: 1985702
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. The beta-globin genotype E121Q/W15X (cd121GAA-->CAA/cd15TGG-->TGA) underlines Hb d/beta-(0) thalassaemia marked by domination of haemoglobin D.
Ahmed M; Stuhrmann M; Bashawri L; Kühnau W; El-Harith EH
Ann Hematol; 2001 Nov; 80(11):629-33. PubMed ID: 11757720
[TBL] [Abstract][Full Text] [Related]
9. A novel beta-delta globin gene fusion, anti-Lepore Hong Kong, leads to overexpression of delta globin chain and a mild thalassaemia intermedia phenotype when co-inherited with beta(0)-thalassaemia.
So CC; Chan AY; Tsang ST; Lee AC; Au WY; Ma ES; Chan LC
Br J Haematol; 2007 Jan; 136(1):158-62. PubMed ID: 17222202
[TBL] [Abstract][Full Text] [Related]
10. Molecular analysis of a thai beta-thalassaemia heterozygote with normal haemoglobin A2 level: implication for population screening.
Fucharoen S; Fucharoen G; Sanchaisuriya K; Pengjam Y
Ann Clin Biochem; 2002 Jan; 39(Pt 1):44-9. PubMed ID: 11853188
[TBL] [Abstract][Full Text] [Related]
11. Hb A
Lederer CW; Pavlou E; Tanteles GA; Evangelidou P; Sismani C; Kolnagou A; Sitarou M; Christou S; Hadjigavriel M; Kleanthous M
Hematology; 2017 Jun; 22(5):304-309. PubMed ID: 28007020
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Haemoglobin Dhofar is linked to the codon 29 C-->T (IVS-1 nt-3) splice mutation which causes beta+ thalassaemia.
Williamson D; Brown KP; Langdown JV; Baglin TP
Br J Haematol; 1995 May; 90(1):229-31. PubMed ID: 7786794
[TBL] [Abstract][Full Text] [Related]
14. Co-inheritance of compound heterozygous Hb Constant Spring and a single -alpha(3.7) gene deletion with heterozygous deltabeta thalassaemia: a diagnostic challenge.
Azma RZ; Othman A; Azman N; Alauddin H; Ithnin A; Yusof N; Razak NF; Sardi NH; Hussin NH
Malays J Pathol; 2012 Jun; 34(1):57-62. PubMed ID: 22870600
[TBL] [Abstract][Full Text] [Related]
15. Molecular, haematological and clinical studies of the -101 C --> T substitution of the beta-globin gene promoter in 25 beta-thalassaemia intermedia patients and 45 heterozygotes.
Maragoudaki E; Kanavakis E; Traeger-Synodinos J; Vrettou C; Tzetis M; Metaxotou-Mavrommati A; Kattamis C
Br J Haematol; 1999 Dec; 107(4):699-706. PubMed ID: 10606872
[TBL] [Abstract][Full Text] [Related]
16. Hb Filottrano [codon 120 (-A)]: a novel frameshift mutation in exon 3 of the β-globin gene causing dominantly inherited β-thalassemia intermedia.
Amato A; Cappabianca MP; Perri M; Zaghis I; Mastropietro F; Ponzini D; Di Biagio P; Piscitelli R
Hemoglobin; 2012; 36(5):480-4. PubMed ID: 22992010
[TBL] [Abstract][Full Text] [Related]
17. A deletion of 11 bp (CD 131-134) in exon 3 of the beta-globin gene produces the phenotype of inclusion body beta-thalassemia.
Ropero P; Villegas A; Martínez M; Ataulfo González Fernández F; Benavente C; Mateo M
Ann Hematol; 2005 Sep; 84(9):584-7. PubMed ID: 15977037
[TBL] [Abstract][Full Text] [Related]
18. Haemoglobin Hope in a northern Thai family: first identification of homozygous haemoglobin Hope associated with haemoglobin H disease.
Sura T; Busabaratana M; Youngcharoen S; Wisedpanichkij R; Viprakasit V; Trachoo O
Eur J Haematol; 2007 Sep; 79(3):251-4. PubMed ID: 17655700
[TBL] [Abstract][Full Text] [Related]
19. Molecular, haematological and clinical studies of a silent beta-gene C-->G mutation at 6 bp 3' to the termination codon (+1480 C-->G) in twelve Greek families.
Maragoudaki E; Vrettou C; Kanavakis E; Traeger-Synodinos J; Metaxotou-Mavrommati A; Kattamis C
Br J Haematol; 1998 Oct; 103(1):45-51. PubMed ID: 9792288
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
