| 1 | AGMX1, BTK
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| Clinical characteristics and molecular analysis of 21 Chinese children with congenital agammaglobulinemia.
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| Zhang ZY, Zhao XD, Jiang LP, Liu EM, Wang M, Yu J, Liu P, Yang XQ.
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| Scand J Immunol 72(5):454-9. doi: 10.1111/j.1365-3083.2010.02457.x.
2010
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| 2 | AGMX1, BTK
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| Genotype-phenotype correlation in Bruton's tyrosine kinase deficiency.
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| Teimourian S, Nasseri S, Pouladi N, Yeganeh M, Aghamohammadi A.
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| J Pediatr Hematol Oncol 30(9):679-83.PMID: 18776760 2008
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| 3 | AGMX1,BTK
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| BTKbase: the mutation database for X-linked agammaglobulinemia.
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| Valiaho J, Smith CI, Vihinen M.
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| Hum Mutat 27(12):1209-17. Review. 2006
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| 4 | AGMX1, BTK
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| Four novel and three recurrent mutations of the BTK gene and pathogenic effects of putative splice mutations.
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| Wattanasirichaigoon D, Benjaponpitak S, Techasaensiri C, Kamchaisatian W, Vichyanond P, Janwityanujit S, Choubtum L, Sirinavin S.
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| J Hum Genet 51(11):1006-14. Epub 2006 Sep 2.
2006
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| 5 | AGMX1, BTK
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| Identification of mutations in the Bruton's tyrosine kinase gene, including a novel genomic rearrangements resulting in large deletion, in Korean X-linked agammaglobulinemia patients.
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| Jo EK, Wang Y, Kanegane H, Futatani T, Song CH, Park JK, Kim JS, Kim DS, Ahn KM, Lee SI, Park HJ, Hahn YS, Lee JH, Miyawaki T.
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| J Hum Genet 48(6):322-6. Epub 2003 May 24. 2003
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| 6 | AGMX1, BTK
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| Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia.
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| Vihinen M, et al.
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| Hum Mutat 13 : 280-285. 1999
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| 7 | AGMX1, BTK
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| Unusual mutations in Btk: an insertion, a duplication, an inversion, and four large deletions.
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| Rohrer J, et al.
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| Clin Immunol 90(1):28-37. 1999
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| 8 | AGMX1, BTK
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| Mutations in Btk in patients with presumed X-linked agammaglobulinemia.
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| Conley ME, et al.
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| Am J Hum Genet 62 : 1034-1043. 1998
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| 9 | AGMX1, BTK
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| Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemia.
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| Vorechovsky I, et al.
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| Hum Mutat 9 : 418-425. 1997
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| 10 | AGMX1, BTK
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| Unusual patterns of exon skipping in Bruton tyrosine kinase are associated with mutations involving the intron 17 3' splice site.
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| Haire RN, et al.
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| Am J Hum Genet 60 : 798-807. 1997
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| 11 | AGMX1, BTK
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| Structure of the PH domain and Btk motif from Bruton's tyrosine kinase: molecular explanations for X-linked agammaglobulinaemia.
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| Hyvonen M, Saraste M.
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| EMBO J 16(12):3396-404. 1997
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| 12 | AGMX1, BTK
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| Identification of novel Bruton's tyrosine kinase mutations in 10 unrelated subjects with X linked agammaglobulinaemia.
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| Brooimans RA, van den Berg AJ, Rijkers GT, Sanders LA, van Amstel JK, Tilanus MG, Grubben MJ, Zegers BJ.
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| J Med Genet 34(6):484-8. 1997
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| 13 | AGMX1, COL4A5
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| A complete YAC contig and cosmid interval map covering the entirety of human Xq21.33 to Xq22.3 from DXS3 to DXS287.
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| Kendall E, Evans W, Jin H, Holland J, Vetrie D.
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| Genomics 43(2):171-82. 1997
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| 14 | AGMX1, BTK
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| Discordant phenotype in siblings with X-linked agammaglobulinemia.
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| Bykowsky MJ, et al.
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| Am J Hum Genet 58 : 477-483. 1996
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| 15 | BTK, AGMX1
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| Mutations of the Btk gene in 12 unrelated families with X-linked agammablobulinemia in Japan.
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| Kobayashi S, et al.
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| Hum Genet 97 : 424-430. 1996
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| 16 | AGMX1, BTK
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| Mutation of the pleckstrin homology domain of Bruton's tyrosine kinase in immunodeficiency impaired inositol 1,3,4,5-tetrakisphosphate binding capacity.
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| Fukuda M, et al.
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| J Biol Chem 271 : 30303-30306. 1996
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| 17 | AGMX1, BTK
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| Mutation analysis of the gene encoding Bruton's tyrosine kinase in a family with a sporadic case of X-linked agammaglobulinemia reveals three female carriers.
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| Hagemann TL, et al.
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| Am J Med Genet 59 : 188-192. 1995
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| 18 | AGMX1, BTK
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| Improved oligonucleotide primer set for molecular diagnosis of X-linked agammaglobulinaemia : predominance of amino acid substitutions in the catalytic domain of Bruton's tyrosine kinase.
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| Vorechovsky I, et al.
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| Hum Mol Genet 4 : 2403-2405. 1995
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| 19 | AGMX1, BTK
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| Identification of Btk mutations in 20 unrelated patients with X-linked agammaglobulinaemia (XLA).
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| Jin H, et al.
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| Hum Mol Genet 4 : 693-700. 1995
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| 20 | AGMX1, BTK
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| Mutation analysis in Bruton's tyrosine kinase, the X-linked agammaglobulinaemia gene, including identification of an insertional hotspot.
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| Gaspar HB, et al.
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| Hum Mol Genet 4 : 755-757. 1995
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| 21 | AGMX1, BTK
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| DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia.
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| Vorechovsky I, et al.
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| Hum Mol Genet 4 : 51-58. 1995
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| 22 | AGMX1
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| Genetic mapping of two loci, DXS454 and DXS458, with respect to the X-linked agammaglobulinemia gene locus.
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| Parkar M, Lovering R, Levinsky RJ, Kinnon C.
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| Hum Genet 93(1):89-90. 1994
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| 23 | AGMX1
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| Application of carrier testing to genetic counseling for X-linked agammaglobulinemia.
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| Allen RC, et al.
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| Am J Hum Genet 54 : 25-35. 1994
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| 24 | AGMX1, BTK
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| Mutation analysis of the Bruton's tyrosine kinase gene in X-linked agammaglobulinemia : identification of a mutation which affects the same codon as is altered in immunodeficient xid mice.
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| De Weers M, et al.
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| Hum Mol Genet 3 : 161-166. 1994
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| 25 | BTK, AGMX1, BTK
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| Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis.
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| Bradley LAD, et al.
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| Hum Mol Genet 3 : 79-83. 1994
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| 26 | AGMX1
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| A point mutation in the SH2 domain of Bruton's tyrosine kinase in atypical X-linked agammaglobulinemia.
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| Saffran DC, et al.
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| N Engl J Med 330 : 1488-1491. 1994
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| 27 | BTK, AGMX1
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| Identification of deletions in the btk gene allows unambiguous assessment of carrier status in families with X-linked agammaglobulinaemia.
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| Lovering RC, et al.
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| Hum Genet 94 : 77-79. 1994
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| 28 | AGMX1, BTK
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| Genomic organization and structure of Bruton agammaglobulinemia tyrosinekinase : localization of mutations associated with varied clinical presentations and course in X chromosome-linked agammaglobulinemia.
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| Ohta Y, et al.
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| Proc Natl Acad Sci U S A 91 : 9062-9066. 1994
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| 29 | BTK, AGMX1
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| Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families. (abstr)
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| Zhu Q, et al.
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| Hum Mol Genet 3 : 1899-1900. 1994
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| 30 | BTK, AGMX1
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| Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase.
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| Conley ME, et al.
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| Hum Mol Genet 3 : 1751-1756. 1994
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| 31 | BTK, AGMX1
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| Genomic organization of the Btk gene and exon scanning for mutations in patients with X-linked agammaglobulinemia.
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| Hagemann TL, et al.
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| Hum Mol Genet 3 : 1743-1749. 1994
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| 32 | AGMX1, BTK
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| Physical mapping in the region of the Bruton's tyrosine kinase and alpha-galactosidase A gene loci in proximal Xq22.
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| Sweatman AK, et al.
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| Hum Genet 94 : 624-628. 1994
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| 33 | AGMX1
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| Linkage analysis and physical mapping near the gene for X-linked agammaglobulinemia at Xq22.
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| Parolini O, et al.
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| Genomics 15 : 342-349. 1993
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| 34 | AGMX1
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| Physical mapping identifies DXS265 as a useful genetic marker for carrier detection and prenatal diagnosis of X-linked agammaglobulinemia.
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| Lovering R, et al.
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| Hum Genet 91 : 178-180. 1993
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| 35 | AGMX1
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| Molecular diagnosis of X-linked agammaglobulinaemia.
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| Vorechkovsky I, et al.
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| Lancet 341 : 1153. 1993
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| 36 | AGMX1
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| Mutation of unique region of Bruton's tyrosine kinase in immunodeficient XID mice.
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| Rawlings DJ, et al.
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| Science 261 : 358-361. 1993
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| 37 | BTK, AGMX1
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| Absence of xid mutation in X-linked agammaglobulinaemia.
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| Vorechovsky I, et al.
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| Lancet 342 : 552. 1993
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| 38 | AGMX1, DXS101
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| A new restriction fragment length polymorphism at the DXS101 locus allows carrier detection in a family with X linked agammaglobulinemia.
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| Sweatman A, et al.
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| J Med Genet 30 : 512-514. 1993
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| 39 | BTK, AGMX1
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| The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases.
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| Vetrie D, et al.
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| Nature 361 : 226-233. 1993
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| 40 | AGMX1
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| Genetic linkage analysis identifies new proximal and distal flanking markers for the X-linked agammaglobulinemia gene locus, refining its localization in Xq22.
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| Lovering R, et al.
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| Hum Mol Genet 2 : 139-141. 1993
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| 41 | BTK, AGMX1
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| Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia.
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| Tsukada S, et al.
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| Cell 72 : 279-290. 1993
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| 42 | AGMX1
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| Carrier detection and prenatal diagnosis of X-linked agammaglobulinemia.
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| Journet O, et al.
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| Am J Med Genet 43 : 885-887. 1992
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| 43 | AGMX1, DXS178
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| Identification of CpG islands around the DXS178 locus in the region of the X-linked agammaglobulinaemia gene locus in Xq22.
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| O'Reilly MA, et al.
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| Hum Genet 90 : 275-278. 1992
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| 44 | AGMX1
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| A physical map of Xq22, refining the X-linked agammaglobulinemia locus.
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| O'Reilly MAJ, et al.
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| (HGM11) Cytogenet Cell Genet 58 : 2077-2078. 1991
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| 45 | AGMX1,BTK,IGHD3
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| Molecular analysis of X-linked agammaglobulinemia with growth hormone deficiency.
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| Conley ME, Burks AW, Herrod HG, Puck JM.
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| J Pediatr 119(3):392-7. 1991
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| 46 | AGMX1
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| Identification of a closely linked DNA marker, DXS178, to further refine the X-linked agammaglobulinemia locus.
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| Kwan SP, et al.
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| Genomics 6 : 238-242. 1990
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| 47 | AGMX1, DXS178
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| Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemia.
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| Guioli S, et al.
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| Hum Genet 84 : 19-21. 1989
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| 48 | AGMX1
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| Exclusion of 12 X-linked loci from Xq 21.1-Xq21.33 : further evidence from a male with an X-chromosomal deletion.
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| Yang HM, et al.
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| (HGM10) Cytogenet Cell Genet 51 : 1113. 1987
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| 49 | AGMX1
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| Genetic heterogeneity in X-linked agammaglobulinemia complicates carrier detection and prenatal diagnosis.
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| Mensink EJBM, et al.
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| Clin Genet 31 : 91-96. 1987
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| 50 | AGMX1
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| Close linkage of random DNA fragments from Xq 21.3-22 to X-linked agammaglobulinaemia (XLA).
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| Malcolm S, et al.
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| Hum Genet 77 : 172-174. 1987
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| 51 | AGMX1
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| Mapping of the X-linked agammaglobulinemia locus by use of restriction fragment-length polymorphism.
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| Kwan SP, et al.
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| J Clin Invest 77 : 649-652. 1986
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| 52 | AGMX1
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| Mapping of a gene for X-linked agammaglobulinemia and evidence for genetic heterogeneity.
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| Mensink EJBM, et al.
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| Hum Genet 73 : 327-332. 1986
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| 53 | AGMX1
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| Heterogeneity in the map distance between X-linked agammaglobulinemia and a map of nine RFLP loci.
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| Ott J, et al.
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| Hum Genet 74 : 280-283. 1986
|