Villa A - Search Results

1

Structural and functional basis for JAK3-deficient severe combined immunodeficiency.

Candotti F, Oakes SA, Johnston JA, Giliani S, Schumacher RF, Mella P, Fiorini M, Ugazio AG, Badolato R, Notarangelo LD, Bozzi F, Macchi P, Strina D, Vezzoni P, Blaese RM, O'Shea JJ, Villa A. Candotti F, et al. Among authors: villa a. Blood. 1997 Nov 15;90(10):3996-4003. Blood. 1997. PMID: 9354668 Free article.

2

The genomic organization of the human transcription factor 3 (TFE3) gene.

Macchi P, Notarangelo L, Giliani S, Strina D, Repetto M, Sacco MG, Vezzoni P, Villa A. Macchi P, et al. Among authors: villa a. Genomics. 1995 Aug 10;28(3):491-4. doi: 10.1006/geno.1995.1179. Genomics. 1995. PMID: 7490085

3

Rapid isolation of cDNA clones by aliquot testing via PCR amplification.

Di Bacco A, Susani L, Villa A, Strina D, Frattini A, Vezzoni P, Zucchi I. Di Bacco A, et al. Among authors: villa a. PCR Methods Appl. 1994 Oct;4(2):126-8. doi: 10.1101/gr.4.2.126. PCR Methods Appl. 1994. PMID: 7580885 Free article. No abstract available.

4

Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID).

Macchi P, Villa A, Giliani S, Sacco MG, Frattini A, Porta F, Ugazio AG, Johnston JA, Candotti F, O'Shea JJ, et al. Macchi P, et al. Among authors: villa a. Nature. 1995 Sep 7;377(6544):65-8. doi: 10.1038/377065a0. Nature. 1995. PMID: 7659163

5

Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hyper IgM syndrome of various ancestry.

Macchi P, Villa A, Strina D, Sacco MG, Morali F, Brugnoni D, Giliani S, Mantuano E, Fasth A, Andersson B, et al. Macchi P, et al. Among authors: villa a. Am J Hum Genet. 1995 Apr;56(4):898-906. Am J Hum Genet. 1995. PMID: 7717401 Free PMC article.

6

X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.

Villa A, Notarangelo L, Macchi P, Mantuano E, Cavagni G, Brugnoni D, Strina D, Patrosso MC, Ramenghi U, Sacco MG, et al. Villa A, et al. Nat Genet. 1995 Apr;9(4):414-7. doi: 10.1038/ng0495-414. Nat Genet. 1995. PMID: 7795648

7

C to T mutation causing premature termination of CD40 ligand at amino acid 221 in a patient affected by hyper IgM syndrome.

Villa A, Strina D, Macchi P, Patrosso MC, Vezzoni P, Tovo PA, Giliani S, Ugazio AG, Notarangelo LD. Villa A, et al. Hum Mutat. 1994;3(1):73-5. doi: 10.1002/humu.1380030115. Hum Mutat. 1994. PMID: 7906987 No abstract available.

8

Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis.

Villa A, Notarangelo LD, Di Santo JP, Macchi PP, Strina D, Frattini A, Lucchini F, Patrosso CM, Giliani S, Mantuano E, et al. Villa A, et al. Proc Natl Acad Sci U S A. 1994 Mar 15;91(6):2110-4. doi: 10.1073/pnas.91.6.2110. Proc Natl Acad Sci U S A. 1994. PMID: 7907793 Free PMC article.

9

Defective expression of CD40 ligand on T cells causes "X-linked immunodeficiency with hyper-IgM (HIGM1)".

Kroczek RA, Graf D, Brugnoni D, Giliani S, Korthüer U, Ugazio A, Senger G, Mages HW, Villa A, Notarangelo LD. Kroczek RA, et al. Among authors: villa a. Immunol Rev. 1994 Apr;138:39-59. doi: 10.1111/j.1600-065x.1994.tb00846.x. Immunol Rev. 1994. PMID: 7915248 Review.

10

The ZNF75 zinc finger gene subfamily: isolation and mapping of the four members in humans and great apes.

Villa A, Strina D, Frattini A, Faranda S, Macchi P, Finelli P, Bozzi F, Susani L, Archidiacono N, Rocchi M, Vezzoni P. Villa A, et al. Genomics. 1996 Jul 15;35(2):312-20. doi: 10.1006/geno.1996.0362. Genomics. 1996. PMID: 8661144

We have previously reported (Villa et al. (1993), Genomics 18: 223) the characterization of the human ZNF75 gene located on Xq26, which has only limited homology (less than 65%) to other ZF genes in the databases. ...This suggests that the duplication and/or retrotranscrip …

We have previously reported (Villa et al. (1993), Genomics 18: 223) the characterization of the human ZNF75 gene located on Xq26, whi …

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