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584 related items for PubMed ID: 16126871

  • 21. [New single point mutation at the initiation codon (ATG-AGG) identified in amplified genomic DNA of a Chinese with beta-thalassaemia].
    Xie S.
    Zhonghua Yi Xue Za Zhi; 1990 May; 70(5):258-61, 20. PubMed ID: 1975769
    [Abstract] [Full Text] [Related]

  • 22. Molecular analysis of unknown beta-globin gene mutations using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) technique and its application in Thai families with beta-thalassemias and beta-globin variants.
    Chinchang W, Viprakasit V, Pung-Amritt P, Tanphaichitr VS, Yenchitsomanus PT.
    Clin Biochem; 2005 Nov; 38(11):987-96. PubMed ID: 16139831
    [Abstract] [Full Text] [Related]

  • 23. Somatic deletion of the normal beta-globin gene leading to thalassaemia intermedia in heterozygous beta-thalassaemic patients.
    Galanello R, Perseu L, Perra C, Maccioni L, Barella S, Longinotti M, Cao A, Cazzola M.
    Br J Haematol; 2004 Dec; 127(5):604-6. PubMed ID: 15566365
    [Abstract] [Full Text] [Related]

  • 24. alpha/beta-Globin mRNA ratio determination by multiplex quantitative real-time reverse transcription-polymerase chain reaction as an indicator of globin gene function.
    Chaisue C, Kitcharoen S, Wilairat P, Jetsrisuparb A, Fucharoen G, Fucharoen S.
    Clin Biochem; 2007 Dec; 40(18):1373-7. PubMed ID: 17920577
    [Abstract] [Full Text] [Related]

  • 25. Novel beta-thalassemia trait (IVS I-1 G-->C) in a Japanese family.
    Fujihara N, Tozuka M, Ueno I, Yamauchi K, Nakagoshi R, Ishikawa S, Hirota M, Okumura N, Ishii E, Katsuyama T.
    Am J Hematol; 2003 Jan; 72(1):64-6. PubMed ID: 12508270
    [Abstract] [Full Text] [Related]

  • 26. Beta-globin cluster haplotypes in normal individuals and beta(0)39-thalassemia carriers from Sardinia, Italy.
    Piras I, Vona G, Falchi A, Latini V, Ristaldi S, Vacca L, Varesi L, Calò CM.
    Am J Hum Biol; 2005 Jan; 17(6):765-72. PubMed ID: 16254903
    [Abstract] [Full Text] [Related]

  • 27. Prenatal diagnosis of beta-thalassaemia mutations using the reverse dot blot technique.
    Muralitharan S, Srivastava A, Shaji RV, Mathai M, Srivastava VM, Dennison D, Lu CY, Krishnamoorthy R.
    Natl Med J India; 1996 Jan; 9(2):70-1. PubMed ID: 8857041
    [Abstract] [Full Text] [Related]

  • 28. Detection of beta-globin gene mutations among Kelantan Malay thalassaemia patients by polymerase chain reaction restriction fragment length polymorphism.
    Rozitah R, Nizam MZ, Nur Shafawati AR, Nor Atifah MA, Dewi M, Kannan TP, Ariffin N, Norsarwany M, Setianingsih I, Harahap A, Zilfalil BA.
    Singapore Med J; 2008 Dec; 49(12):1046-9. PubMed ID: 19122960
    [Abstract] [Full Text] [Related]

  • 29. Impact of beta globin gene mutations on the clinical phenotype of beta thalassemia in India.
    Colah R, Nadkarni A, Gorakshakar A, Phanasgaonkar S, Surve R, Subramaniam PG, Bondge N, Pujari K, Ghosh K, Mohanty D.
    Blood Cells Mol Dis; 2004 Dec; 33(2):153-7. PubMed ID: 15315795
    [Abstract] [Full Text] [Related]

  • 30. The spectrum of beta-thalassemia mutations in southern Thailand.
    Nopparatana C, Panich V, Saechan V, Sriroongrueng V, Nopparatana C, Rungjeadpha J, Pornpatkul M, Laosombat V, Fukumaki Y.
    Southeast Asian J Trop Med Public Health; 1995 Dec; 26 Suppl 1():229-34. PubMed ID: 8629112
    [Abstract] [Full Text] [Related]

  • 31. A double heterozygote for (deltabeta)0-thalassemia and codons 41/42 (-TTCT) behaves as a homozygote for the frameshift mutation in a Chinese family.
    Liao C, Feng Q, Li J, Huang Y, Li D.
    Hemoglobin; 2007 Dec; 31(3):397-400. PubMed ID: 17654080
    [Abstract] [Full Text] [Related]

  • 32. Molecular basis of beta-thalassemia minor in Taiwan.
    Chang JG, Lin CP, Liu TC, Chiou SS, Chen PH, Lee LS, Chen TP.
    Int J Hematol; 1994 Jun; 59(4):267-72. PubMed ID: 8086620
    [Abstract] [Full Text] [Related]

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

  • 34. A new frameshift mutation, insertion of ATCT, at codon 48 in the beta-globin gene causes beta-thalassemia in an Indian proband.
    Jain PK, Dozy AM, Verma IC, Chehab FF.
    Hum Mutat; 1994 Jun; 3(4):397-8. PubMed ID: 8081396
    [No Abstract] [Full Text] [Related]

  • 35. A new β(0)-thalassemia mutation (codon 102, AAC>ATCAC) in coexistence with a heterozygous P4.2 Nippon gene.
    Adhiyanto C, Yamashiro Y, Hattori Y, Nitta T, Hino M, Matar M, Takagi F, Kimoto M.
    Hemoglobin; 2013 Jun; 37(3):227-40. PubMed ID: 23600595
    [Abstract] [Full Text] [Related]

  • 36. New amber mutation in a beta-thalassemic gene with nonmeasurable levels of mutant messenger RNA in vivo.
    Atweh GF, Brickner HE, Zhu XX, Kazazian HH, Forget BG.
    J Clin Invest; 1988 Aug; 82(2):557-61. PubMed ID: 3403716
    [Abstract] [Full Text] [Related]

  • 37. Molecular analysis of globin gene expression in different thalassaemia disorders: individual variation of β(E) pre-mRNA splicing determine disease severity.
    Tubsuwan A, Munkongdee T, Jearawiriyapaisarn N, Boonchoy C, Winichagoon P, Fucharoen S, Svasti S.
    Br J Haematol; 2011 Sep; 154(5):635-43. PubMed ID: 21732929
    [Abstract] [Full Text] [Related]

  • 38. [Molecular diagnosis in a Korean family with thalassemia intermedia due to co-inheritance of triplicated alpha-globin genes (alphaalpha/alphaalphaalpha(anti 3.7)) and beta-thalassemia trait (IVS-II-1 G-->A)].
    Chen M, Han JY, Sun Q, Kim IH, Ren Z, Huang S, Zeng Y.
    Zhonghua Xue Ye Xue Za Zhi; 2000 Apr; 21(4):195-7. PubMed ID: 11876981
    [Abstract] [Full Text] [Related]

  • 39. [Frequency of molecular alterations in heterozygous beta-thalassemia in southern Spain and their relation to the hematologic phenotype].
    Molina MA, Romero MJ, Abril E, Delgado I, Cano RM, Garrido F, de Pablos JM, Garrido ML.
    Sangre (Barc); 1994 Aug; 39(4):253-6. PubMed ID: 7985053
    [Abstract] [Full Text] [Related]

  • 40. Quantitative analysis of CAPN3 transcripts in LGMD2A patients: involvement of nonsense-mediated mRNA decay.
    Stehlíková K, Zapletalová E, Sedlácková J, Hermanová M, Vondrácek P, Maríková T, Mazanec R, Zámecník J, Vohánka S, Fajkus J, Fajkusová L.
    Neuromuscul Disord; 2007 Feb; 17(2):143-7. PubMed ID: 17157502
    [Abstract] [Full Text] [Related]

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