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426 related items for PubMed ID: 14974089

  • 1. BTK: 22 novel and 25 recurrent mutations in European patients with X-linked agammaglobulinemia.
    Fiorini M, Franceschini R, Soresina A, Schumacher RF, Ugazio AG, Rossi P, Plebani A, Notarangelo LD.
    Hum Mutat; 2004 Mar; 23(3):286. PubMed ID: 14974089
    [Abstract] [Full Text] [Related]

  • 2. Detection of a novel mutation in the SRC homology domain 2 (SH2) of Bruton's tyrosine kinase and direct female carrier evaluation in a family with X-linked agammaglobulinemia.
    Schuster V, Seidenspinner S, Kreth HW.
    Am J Med Genet; 1996 May 03; 63(1):318-22. PubMed ID: 8723128
    [Abstract] [Full Text] [Related]

  • 3. X-linked agammaglobulinemia in a 10-year-old boy with a novel non-invariant splice-site mutation in Btk gene.
    Maekawa K, Yamada M, Okura Y, Sato Y, Yamada Y, Kawamura N, Ariga T.
    Blood Cells Mol Dis; 2010 Apr 15; 44(4):300-4. PubMed ID: 20122858
    [Abstract] [Full Text] [Related]

  • 4. Characterization of novel Bruton's tyrosine kinase gene mutations in Central European patients with agammaglobulinemia.
    Kristufek D, Aspalter RM, Eibl MM, Wolf HM.
    Mol Immunol; 2007 Mar 15; 44(7):1639-43. PubMed ID: 17045652
    [Abstract] [Full Text] [Related]

  • 5. Characterization of Bruton's tyrosine kinase mutations in Mexican patients with X-linked agammaglobulinemia.
    Lopez-Herrera G, Berron-Ruiz L, Mogica-Martinez D, Espinosa-Rosales F, Santos-Argumedo L.
    Mol Immunol; 2008 Feb 15; 45(4):1094-8. PubMed ID: 17765309
    [Abstract] [Full Text] [Related]

  • 6. Mutations of the Btk gene in 12 unrelated families with X-linked agammaglobulinemia in Japan.
    Kobayashi S, Iwata T, Saito M, Iwasaki R, Matsumoto H, Naritaka S, Kono Y, Hayashi Y.
    Hum Genet; 1996 Apr 15; 97(4):424-30. PubMed ID: 8834236
    [Abstract] [Full Text] [Related]

  • 7. Bruton's tyrosine kinase mutations in 8 Chinese families with X-linked agammaglobulinemia.
    Yip KL, Chan SY, Ip WK, Lau YL.
    Hum Mutat; 2000 Apr 15; 15(4):385. PubMed ID: 10737994
    [Abstract] [Full Text] [Related]

  • 8. Identification of mutations of Bruton's tyrosine kinase gene (BTK) in Brazilian patients with X-linked agammaglobulinemia.
    Tani SM, Wang Y, Kanegane H, Futatani T, Pinto J, Vilela MM, Miyawaki T.
    Hum Mutat; 2002 Sep 15; 20(3):235-6. PubMed ID: 12204007
    [Abstract] [Full Text] [Related]

  • 9. Molecular analysis of Bruton's tyrosine kinase gene in Spain.
    Rodríguez MC, Granados EL, Cerdán AF, Casariego GF.
    Hum Mutat; 2001 Sep 15; 18(1):84. PubMed ID: 11438999
    [Abstract] [Full Text] [Related]

  • 10. Characterization of germline mutations of the gene encoding Bruton's tyrosine kinase in families with X-linked agammaglobulinemia.
    Hagemann TL, Rosen FS, Kwan SP.
    Hum Mutat; 1995 Sep 15; 5(4):296-302. PubMed ID: 7627183
    [Abstract] [Full Text] [Related]

  • 11. Identification of nine novel mutations in the Bruton's tyrosine kinase gene in X-linked agammaglobulinaemia patients.
    Orlandi P, Ritis K, Moschese V, Angelini F, Arvanitidis K, Speletas M, Sideras P, Plebani A, Rossi P.
    Hum Mutat; 2000 Jan 15; 15(1):117. PubMed ID: 10612838
    [Abstract] [Full Text] [Related]

  • 12. Bruton tyrosine kinase gene mutations in Turkish patients with presumed X-linked agammaglobulinemia.
    Wang Y, Kanegane H, Sanal O, Ersoy F, Tezcan I, Futatani T, Tsukada S, Miyawaki T.
    Hum Mutat; 2001 Oct 15; 18(4):356. PubMed ID: 11668622
    [Abstract] [Full Text] [Related]

  • 13. De novo mutation in the BTK gene of atypical X-linked agammaglobulinemia in a patient with recurrent pyoderma.
    Lin MT, Chien YH, Shyur SD, Huang LH, Chiang YC, Wen DC, Liang PH, Yang HC.
    Ann Allergy Asthma Immunol; 2006 May 15; 96(5):744-8. PubMed ID: 16729790
    [Abstract] [Full Text] [Related]

  • 14. [Gene diagnosis of X-linked agammaglobulinemia].
    Wang XC, Wang Y, Kanegane H, Toshio M, Yu YH.
    Zhonghua Er Ke Za Zhi; 2005 Jun 15; 43(6):449-52. PubMed ID: 16053733
    [Abstract] [Full Text] [Related]

  • 15. Clinical, immunological and molecular characteristics of 37 Iranian patients with X-linked agammaglobulinemia.
    Aghamohammadi A, Fiorini M, Moin M, Parvaneh N, Teimourian S, Yeganeh M, Goffi F, Kanegane H, Amirzargar AA, Pourpak Z, Rezaei N, Salavati A, Pouladi N, Abdollahzade S, Notarangelo LD, Miyawaki T, Plebani A.
    Int Arch Allergy Immunol; 2006 Jun 15; 141(4):408-14. PubMed ID: 16943681
    [Abstract] [Full Text] [Related]

  • 16. Clinical findings leading to the diagnosis of X-linked agammaglobulinemia.
    Conley ME, Howard V.
    J Pediatr; 2002 Oct 15; 141(4):566-71. PubMed ID: 12378199
    [Abstract] [Full Text] [Related]

  • 17. A genotype-phenotype correlation study in a group of 54 patients with X-linked agammaglobulinemia.
    López-Granados E, Pérez de Diego R, Ferreira Cerdán A, Fontán Casariego G, García Rodríguez MC.
    J Allergy Clin Immunol; 2005 Sep 15; 116(3):690-7. PubMed ID: 16159644
    [Abstract] [Full Text] [Related]

  • 18. Clinical characteristics and prenatal diagnosis for 22 families in Henan Province of China with X-linked agammaglobulinemia (XLA) related to Bruton's tyrosine kinase (BTK) gene mutations.
    Gao S, Hu S, Duan H, Wang L, Kong X.
    BMC Med Genet; 2020 Jun 17; 21(1):131. PubMed ID: 32552675
    [Abstract] [Full Text] [Related]

  • 19. X-Linked Agammagobulinemia in a Large Series of North African Patients: Frequency, Clinical Features and Novel BTK Mutations.
    Aadam Z, Kechout N, Barakat A, Chan KW, Ben-Ali M, Ben-Mustapha I, Zidi F, Ailal F, Attal N, Doudou F, Abbadi MC, Kaddache C, Smati L, Touri N, Chemli J, Gargah T, Brini I, Bakhchane A, Charoute H, Jeddane L, El Atiqi S, El Hafidi N, Hida M, Saile R, Alj HS, Boukari R, Bejaoui M, Najib J, Barbouche MR, Lau YL, Mellouli F, Bousfiha AA.
    J Clin Immunol; 2016 Apr 17; 36(3):187-94. PubMed ID: 26931785
    [Abstract] [Full Text] [Related]

  • 20. Bruton's tyrosine kinase expression and activity in X-linked agammaglobulinaemia (XLA): the use of protein analysis as a diagnostic indicator of XLA.
    Gaspar HB, Lester T, Levinsky RJ, Kinnon C.
    Clin Exp Immunol; 1998 Feb 17; 111(2):334-8. PubMed ID: 9486400
    [Abstract] [Full Text] [Related]

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