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 *

323 related articles for article (PubMed ID: 1301199)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

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

  • 5. 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]  

  • 6. Hemoglobin Sabine [beta 91 (F7) Leu-->Pro]: occurrence in a Sardinian individual with hemolytic anemia and inclusion bodies.
    Gasperini D; Galanello R; Melis MA; Iannelli S; Giordano P; Bernini LF; Cao A
    Haematologica; 1992; 77(5):381-3. PubMed ID: 1336469
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Hemoglobin Hakkari: an autosomal dominant form of beta thalassemia with inclusion bodies arising from de novo mutation in exon 2 of beta globin gene.
    Kanathezhath B; Hazard FK; Guo H; Kidd J; Azimi M; Kuypers FA; Vichinsky EP; Lal A
    Pediatr Blood Cancer; 2010 Feb; 54(2):332-5. PubMed ID: 19852066
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. Co-inheritance of Hb Pak Num Po, a novel alpha1 gene mutation, and alpha0 thalassemia associated with transfusion-dependent Hb H disease.
    Viprakasit V; Tanphaichitr VS; Veerakul G; Chinchang W; Petrarat S; Pung-Amritt P; Higgs DR
    Am J Hematol; 2004 Mar; 75(3):157-63. PubMed ID: 14978697
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. [Molecular diagnosis of beta-thalassemia intermedia].
    Chen J; Liu W; Chen M
    Zhonghua Yi Xue Za Zhi; 1997 Aug; 77(8):575-8. PubMed ID: 9772460
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Two independent origins of Hb Dhonburi (Neapolis) [beta 126 (H4) Val-->Gly]: an electrophoretically silent hemoglobin variant.
    Viprakasit V; Chinchang W
    Clin Chim Acta; 2007 Feb; 376(1-2):179-83. PubMed ID: 17007829
    [TBL] [Abstract][Full Text] [Related]  

  • 16. C to T transition at the first nucleotide of codon 63 of the beta-globin gene corresponding to hemoglobin M-Saskatoon in an Indonesian boy.
    Suryantoro P; Takeshima Y; Haryanto A; Matsuo M
    Jpn J Hum Genet; 1995 Jun; 40(2):195-201. PubMed ID: 7663000
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Delta-thalassemia in Cyprus.
    Pavlou E; Phylactides M; Kyrri A; Kalogerou E; Makariou C; Georgiou I; Kleanthous M
    Hemoglobin; 2006; 30(4):455-62. PubMed ID: 16987800
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Segmental duplications involving the alpha-globin gene cluster are causing beta-thalassemia intermedia phenotypes in beta-thalassemia heterozygous patients.
    Harteveld CL; Refaldi C; Cassinerio E; Cappellini MD; Giordano PC
    Blood Cells Mol Dis; 2008; 40(3):312-6. PubMed ID: 18249014
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Association of mild and severely unstable alpha chain variants: the first observation of a compound heterozygote with Hb Setif [alpha94(G1)Asp-->Tyr (alpha2)] and Hb Agrinio [alpha29(B10)Leu-->Pro (alpha2)] in a Greek family.
    Douna V; Papassotiriou I; Stamoulakatou A; Metaxotou-Mavrommati A; Kanavakis E; Traeger-Synodinos J
    Hemoglobin; 2008; 32(6):592-5. PubMed ID: 19065338
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Spontaneous mutation of the hemoglobin Leiden (beta 6 or 7 Glu-->0) in a Thai girl.
    Sanguansermsri P; Shimbhu D; Wongvilairat R; Pimsorn C; Sanguansermsri T
    Haematologica; 2003 Dec; 88(12):ECR35. PubMed ID: 14688008
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.