D Strina

Author PubWeight™ 12.55‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. Blood 2001 2.50
2 Structural and functional basis for JAK3-deficient severe combined immunodeficiency. Blood 1997 1.34
3 X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. Nat Genet 1995 1.29
4 Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis. Proc Natl Acad Sci U S A 1994 0.98
5 Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hyper IgM syndrome of various ancestry. Am J Hum Genet 1995 0.90
6 Lymphoid abnormalities in CD40 ligand transgenic mice suggest the need for tight regulation in gene therapy approaches to hyper immunoglobulin M (IgM) syndrome. Cancer Gene Ther 2000 0.89
7 Genomic organization of the human VP16 accessory protein, a housekeeping gene (HCFC1) mapping to Xq28. Genomics 1994 0.86
8 C to T mutation causing premature termination of CD40 ligand at amino acid 221 in a patient affected by hyper IgM syndrome. Hum Mutat 1994 0.82
9 ZNF75: isolation of a cDNA clone of the KRAB zinc finger gene subfamily mapped in YACs 1 Mb telomeric of HPRT. Genomics 1993 0.77
10 The genomic organization of the human transcription factor 3 (TFE3) gene. Genomics 1995 0.77
11 Prenatal diagnosis of RAG-deficient Omenn syndrome. Prenat Diagn 2000 0.77
12 The ZNF75 zinc finger gene subfamily: isolation and mapping of the four members in humans and great apes. Genomics 1996 0.77
13 Rapid isolation of cDNA clones by aliquot testing via PCR amplification. PCR Methods Appl 1994 0.75
14 Type 2 vasopressin receptor gene, the gene responsible nephrogenic diabetes insipidus, maps to Xq28 close to the LICAM gene. Biochem Biophys Res Commun 1993 0.75
15 Partial regression, yet incomplete eradication of mammary tumors in transgenic mice by retrovirally mediated HSVtk transfer 'in vivo'. Gene Ther 1996 0.75
16 Isolation of a zinc finger motif (ZNF75) mapping on chromosome Xq26. Genomics 1992 0.75
17 The exon-intron structure of human LHX1 gene. Biochem Biophys Res Commun 1996 0.75