|
1
|
Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis.
|
J Med Genet
|
2001
|
1.07
|
|
2
|
Combined immunodeficiencies due to defects in signal transduction: defects of the gammac-JAK3 signaling pathway as a model.
|
Immunobiology
|
2000
|
1.06
|
|
3
|
Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency.
|
Hum Mutat
|
2001
|
1.04
|
|
4
|
PTX3 genetic variations affect the risk of Pseudomonas aeruginosa airway colonization in cystic fibrosis patients.
|
Genes Immun
|
2010
|
1.01
|
|
5
|
Molecular modeling of the Jak3 kinase domains and structural basis for severe combined immunodeficiency.
|
Clin Immunol
|
2000
|
0.98
|
|
6
|
Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency. Defects of the gamma(c)-JAK3 signaling pathway as a model.
|
Immunol Rev
|
2000
|
0.86
|
|
7
|
Eleven novel JAK3 mutations in patients with severe combined immunodeficiency-including the first patients with mutations in the kinase domain.
|
Hum Mutat
|
2001
|
0.84
|
|
8
|
Role of IL-1 beta and corticosteroids in the regulation of the C/EBP-alpha, beta and delta genes in vivo.
|
Cytokine
|
1995
|
0.83
|
|
9
|
Rapid protein-based assays for the diagnosis of T-B+ severe combined immunodeficiency.
|
Br J Haematol
|
2001
|
0.80
|
|
10
|
A glucocorticoid receptor-independent mechanism for neurosteroid inhibition of tumor necrosis factor production.
|
Eur J Pharmacol
|
1996
|
0.78
|
|
11
|
Acute inflammatory demyelinating polyradiculoneuropathy associated with perforin-deficient familial haemophagocytic lymphohistiocytosis.
|
Acta Paediatr
|
2003
|
0.77
|
|
12
|
Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene.
|
Ultrasound Obstet Gynecol
|
2010
|
0.77
|
|
13
|
Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism.
|
Hum Genet
|
2000
|
0.77
|
|
14
|
Specificity of action of a herpes virus VP16/tetracycline-dependent trans-activator in mammalian cell cultures.
|
DNA Cell Biol
|
1995
|
0.75
|