1 |
Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course.
61
6
|
Holinski-Feder E...Meindl A
|
9445504 |
1998 |
2 |
Germline deletion of CIN85 in humans with X chromosome-linked antibody deficiency.
6
|
Keller B...Wienands J
|
29636373 |
2018 |
3 |
[A retrospective study of one case of X-linked agammaglobulinemia].
6
|
Li DX...Wang J
|
17327079 |
2006 |
4 |
Genetic analysis of patients with defects in early B-cell development.
6
|
Conley ME...Shurtleff SA
|
15661032 |
2005 |
5 |
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.
6
|
Jo EK...Miyawaki T
|
12768435 |
2003 |
6 |
Identification of mutations of Bruton's tyrosine kinase gene (BTK) in Brazilian patients with X-linked agammaglobulinemia.
6
|
Tani SM...Miyawaki T
|
12204007 |
2002 |
7 |
Composition of precursor B-cell compartment in bone marrow from patients with X-linked agammaglobulinemia compared with healthy children.
6
|
Noordzij JG...van Dongen JJ
|
11809909 |
2002 |
8 |
Clinical and mutational characteristics of X-linked agammaglobulinemia and its carrier identified by flow cytometric assessment combined with genetic analysis.
6
|
Kanegane H...Miyawaki T
|
11742281 |
2001 |
9 |
Characterization of mutations, including a novel regulatory defect in the first intron, in Bruton's tyrosine kinase gene from seven Korean X-linked agammaglobulinemia families.
6
|
Jo EK...Miyawaki T
|
11564824 |
2001 |
10 |
Development of type 1 diabetes despite severe hereditary B-cell deficiency.
6
|
Martin S...Roep BO
|
11586956 |
2001 |
11 |
Analysis of Btk mutations in patients with X-linked agammaglobulinaemia (XLA) and determination of carrier status in normal female relatives: a nationwide study of Btk deficiency in Greece.
6
|
Speletas M...Ritis K
|
11555397 |
2001 |
12 |
A mutation in Bruton's tyrosine kinase as a cause of selective anti-polysaccharide antibody deficiency.
6
|
Wood PM...Kumararatne DS
|
11445810 |
2001 |
13 |
Twin carriers of X-linked agammaglobulinemia (XLA) due to germline mutation in the Btk gene.
6
|
Curtis SK...Saha BK
|
10678660 |
2000 |
14 |
Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemia.
6
|
Vorechovsky I...Smith CI
|
9143921 |
1997 |
15 |
Discordant phenotype in siblings with X-linked agammaglobulinemia.
6
|
Bykowsky MJ...Sullivan KE
|
8644706 |
1996 |
16 |
The spectrum of mutations in Btk that cause X-linked agammaglobulinemia.
6
|
Conley ME...Rohrer J
|
7554467 |
1995 |
17 |
Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease.
6
|
Vihinen M...Sowadski JM
|
7809124 |
1994 |
18 |
Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families.
6
|
Zhu Q...Ochs HD
|
7849721 |
1994 |
19 |
Genomic organization of the Btk gene and exon scanning for mutations in patients with X-linked agammaglobulinemia.
6
|
Hagemann TL...Kwan SP
|
7880320 |
1994 |
20 |
Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase.
6
|
Conley ME...Rohrer J
|
7849697 |
1994 |
21 |
Genomic organization and structure of Bruton agammaglobulinemia tyrosine kinase: localization of mutations associated with varied clinical presentations and course in X chromosome-linked agammaglobulinemia.
6
|
Ohta Y...Litman GW
|
8090769 |
1994 |
22 |
Assessing inheritance of agammaglobulinemia.
6
|
Buckley RH
|
8164707 |
1994 |
23 |
Brief report: a point mutation in the SH2 domain of Bruton's tyrosine kinase in atypical X-linked agammaglobulinemia.
6
|
Saffran DC...Conley ME
|
8164701 |
1994 |
24 |
Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis.
6
|
Bradley LA...Kinnon C
|
8162056 |
1994 |
25 |
The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases.
6
|
Vetrie D...Bobrow M
|
8380905 |
1993 |
26 |
Human genetics. Becoming B cells.
6
|
Desiderio S
|
7678697 |
1993 |
27 |
Carrier detection in typical and atypical X-linked agammaglobulinemia.
6
|
Conley ME...Puck JM
|
2896233 |
1988 |
28 |
Agammaglobulinemia, neutropenia, fever, and abdominal pain.
6
|
Buckley RH...Rowlands DT
|
4697357 |
1973 |
29 |
A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR(-) B cells.
61
|
Boisson B...Conley ME
|
24216514 |
2013 |
30 |
Visualization of amyloid arthropathy in light-chain systemic amyloidosis on F-18 FDG PET/CT scan.
61
|
Mekinian A...Fain O
|
21157212 |
2011 |
31 |
Clinical features and follow-up of Chinese patients with symptomatic hypogammaglobulinemia in infancy.
61
|
Qian JH...Chen TX
|
19781364 |
2009 |