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Journal Abstract Search

168 related items for PubMed ID: 8299233

  • 1. Homozygosity for a missense mutation (G20R) associated with neonatal onset adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID).
    Yang DR, Huie ML, Hirschhorn R.
    Clin Immunol Immunopathol; 1994 Feb; 70(2):171-5. PubMed ID: 8299233
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  • 5. Five missense mutations at the adenosine deaminase locus (ADA) detected by altered restriction fragments and their frequency in ADA--patients with severe combined immunodeficiency (ADA-SCID).
    Hirschhorn R, Ellenbogen A, Tzall S.
    Am J Med Genet; 1992 Jan 15; 42(2):201-7. PubMed ID: 1346349
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  • 6. Carrier frequency of a nonsense mutation in the adenosine deaminase (ADA) gene implies a high incidence of ADA-deficient severe combined immunodeficiency (SCID) in Somalia and a single, common haplotype indicates common ancestry.
    Sanchez JJ, Monaghan G, Børsting C, Norbury G, Morling N, Gaspar HB.
    Ann Hum Genet; 2007 May 15; 71(Pt 3):336-47. PubMed ID: 17181544
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  • 7. Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID).
    Hirschhorn R, Chakravarti V, Puck J, Douglas SD.
    Am J Hum Genet; 1991 Oct 15; 49(4):878-85. PubMed ID: 1680289
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  • 8. ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome.
    Cagdas D, Gur Cetinkaya P, Karaatmaca B, Esenboga S, Tan C, Yılmaz T, Gümüş E, Barış S, Kuşkonmaz B, Ozgur TT, Bali P, Santisteban I, Orhan D, Yüce A, Cetinkaya D, Boztug K, Hershfield M, Sanal O, Tezcan İ.
    J Clin Immunol; 2018 May 15; 38(4):484-493. PubMed ID: 29744787
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  • 10. Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA.
    Santisteban I, Arredondo-Vega FX, Kelly S, Loubser M, Meydan N, Roifman C, Howell PL, Bowen T, Weinberg KI, Schroeder ML.
    Hum Mol Genet; 1995 Nov 15; 4(11):2081-7. PubMed ID: 8589684
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  • 11. Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del. Mutations in brief no. 142. Online.
    Arrendondo-Vega FX, Santisteban I, Notarangelo LD, El Dahr J, Buckley R, Roifman C, Conley ME, Hershfield MS.
    Hum Mutat; 1998 Nov 15; 11(6):482. PubMed ID: 10200056
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  • 14. A homozygous 5 base-pair deletion in exon 10 of the adenosine deaminase (ADA) gene in a child with severe combined immunodeficiency and very low levels of ADA mRNA and protein.
    Gossage DL, Norby-Slycord CJ, Hershfield MS, Markert ML.
    Hum Mol Genet; 1993 Sep 15; 2(9):1493-4. PubMed ID: 8242080
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  • 15. Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities.
    Adams SP, Wilson M, Harb E, Fairbanks L, Xu-Bayford J, Brown L, Kearney L, Madkaikar M, Bobby Gaspar H.
    Clin Immunol; 2015 Dec 15; 161(2):174-9. PubMed ID: 26255240
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  • 17. Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype.
    Santisteban I, Arredondo-Vega FX, Kelly S, Mary A, Fischer A, Hummell DS, Lawton A, Sorensen RU, Stiehm ER, Uribe L.
    J Clin Invest; 1993 Nov 15; 92(5):2291-302. PubMed ID: 8227344
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  • 19. Hyperbilirubinemia and rapid fatal hepatic failure in severe combined immunodeficiency caused by adenosine deaminase deficiency (ADA-SCID).
    Kühl JS, Schwarz K, Münch A, Schmugge M, Pekrun A, Meisel C, Wahn V, Ebell W, von Bernuth H.
    Klin Padiatr; 2011 Mar 15; 223(2):85-9. PubMed ID: 21271505
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  • 20. Identification of two new missense mutations (R156C and S291L) in two ADA- SCID patients unusual for response to therapy with partial exchange transfusions.
    Hirschhorn R.
    Hum Mutat; 1992 Mar 15; 1(2):166-8. PubMed ID: 1284479
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