Literature DB >> 8097835

Molecular diagnosis of X-linked agammaglobulinaemia.

I Vorechovsky, J N Zhou, D Vetrie, D Bentley, J Björkander, L Hammarström, C I Smith, I Vorechkovsky.   

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Year:  1993        PMID： 8097835     DOI： 10.1016/0140-6736(93)93172-w

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  9 in total

1.  B-cell-specific demethylation of BTK, the defective gene in X-linked agammaglobulinemia.

Authors:  O Parolini; J Rohrer; L H Shapiro; M E Conley
Journal:  Immunogenetics       Date:  1995       Impact factor: 2.846

2.  Unusual patterns of exon skipping in Bruton tyrosine kinase are associated with mutations involving the intron 17 3' splice site.

Authors:  R N Haire; Y Ohta; S J Strong; R T Litman; Y Liu; J T Prchal; M D Cooper; G W Litman
Journal:  Am J Hum Genet       Date:  1997-04       Impact factor: 11.025

3.  Assessment of male CVID patients for mutations in the Btk gene: how many have been misdiagnosed?

Authors:  S A Weston; M L Prasad; C G Mullighan; H Chapel; E M Benson
Journal:  Clin Exp Immunol       Date:  2001-06       Impact factor: 4.330

4.  Identification of novel Bruton's tyrosine kinase mutations in 10 unrelated subjects with X linked agammaglobulinaemia.

Authors:  R A Brooimans; A J van den Berg; G T Rijkers; L A Sanders; J K van Amstel; M G Tilanus; M J Grubben; B J Zegers
Journal:  J Med Genet       Date:  1997-06       Impact factor: 6.318

5.  The PAX5 gene: a linkage and mutation analysis in candidate human primary immunodeficiencies.

Authors:  I Vorechovský; S Koskinen; R Paganelli; C I Smith; M Busslinger; L Hammarström
Journal:  Immunogenetics       Date:  1995       Impact factor: 2.846

6.  Mutations in btk in patients with presumed X-linked agammaglobulinemia.

Authors:  M E Conley; D Mathias; J Treadaway; Y Minegishi; J Rohrer
Journal:  Am J Hum Genet       Date:  1998-05       Impact factor: 11.025

Review 7.  Kinase mutations in human disease: interpreting genotype-phenotype relationships.

Authors:  Piya Lahiry; Ali Torkamani; Nicholas J Schork; Robert A Hegele
Journal:  Nat Rev Genet       Date:  2010-01       Impact factor: 53.242

Review 8.  Beyond monogenetic rare variants: tackling the low rate of genetic diagnoses in predominantly antibody deficiency.

Authors:  Emily S J Edwards; Julian J Bosco; Samar Ojaimi; Robyn E O'Hehir; Menno C van Zelm
Journal:  Cell Mol Immunol       Date:  2020-08-17       Impact factor: 11.530

9.  Deletion within the Src homology domain 3 of Bruton's tyrosine kinase resulting in X-linked agammaglobulinemia (XLA).

Authors:  Q Zhu; M Zhang; D J Rawlings; M Vihinen; T Hagemann; D C Saffran; S P Kwan; L Nilsson; C I Smith; O N Witte; S H Chen; H D Ochs
Journal:  J Exp Med       Date:  1994-08-01       Impact factor: 14.307
  9 in total

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