Associated Papers
First 2-year experience of nationwide newborn screening for severe forms of T and B cell immunodeficiency: 2.3 million newborns analyzed using TREC and KREC in Russia.
Marakhonov A et al.
Frontiers in Immunology, 2026
41727503 (PubMed )
Supplement: Table1.xlsx › Table_S2
Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia: Report from Shanghai, China (2000-2015).
Chen XF et al.
Medicine, 2016
KinMutRF: a random forest classifier of sequence variants in the human protein kinase superfamily.
Pons T et al.
Bmc Genomics, 2016
27357839 (PubMed )
Supplement: 12864_2016_2723_MOESM3_ESM.xlsx › Sheet1
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
Characterization of all possible single-nucleotide change caused amino acid substitutions in the kinase domain of Bruton tyrosine kinase.
Väliaho J et al.
Human Mutation, 2015
Relapsing Campylobacter jejuni Systemic Infections in a Child with X-Linked Agammaglobulinemia.
Ariganello P et al.
Case Reports in Pediatrics, 2013
The energy landscape analysis of cancer mutations in protein kinases.
Dixit A et al.
Plos One, 2011
21998754 (PubMed )
Supplement: pone.0026071.s009.doc
BTK: 22 novel and 25 recurrent mutations in European patients with X-linked agammaglobulinemia.
Fiorini M et al.
Human Mutation, 2004
Bruton's tyrosine kinase defect in dendritic cells from X-linked agammaglobulinaemia patients does not influence their differentiation, maturation and antigen-presenting cell function.
Gagliardi MC et al.
Clinical and Experimental Immunology, 2003
DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia.
Vorechovský I et al.
Human Molecular Genetics, 1995
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