1992 …2018

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2015

Buried in the middle but guilty: Intronic mutations in the TCIRG1 gene cause human autosomal recessive osteopetrosis

Palagano, E., Blair, H. C., Pangrazio, A., Tourkova, I., Strina, D., Angius, A., Cuccuru, G., Oppo, M., Uva, P., Van Hul, W., Boudin, E., Superti-Furga, A., Faletra, F., Nocerino, A., Ferrari, M. C., Grappiolo, G., Monari, M., Montanelli, A., Vezzoni, P., Villa, A. & 1 others, Sobacchi, C., Oct 1 2015, In : Journal of Bone and Mineral Research. 30, 10, p. 1814-1821 8 p.

Research output: Contribution to journalArticle

Targeted gene correction in osteopetrotic-induced pluripotent stem cells for the generation of functional osteoclasts

Neri, T., Muggeo, S., Paulis, M., Caldana, M. E., Crisafulli, L., Strina, D., Focarelli, M. L., Faggioli, F., Recordati, C., Scaramuzza, S., Scanziani, E., Mantero, S., Buracchi, C., Sobacchi, C., Lombardo, A., Naldini, L., Vezzoni, P., Villa, A. & Ficara, F., Oct 13 2015, In : Stem Cell Reports. 5, 4, p. 558-568 11 p.

Research output: Contribution to journalArticle

2012

RANK-dependent autosomal recessive osteopetrosis: Characterization of five new cases with novel mutations

Pangrazio, A., Cassani, B., Guerrini, M. M., Crockett, J. C., Marrella, V., Zammataro, L., Strina, D., Schulz, A., Schlack, C., Kornak, U., Mellis, D. J., Duthie, A., Helfrich, M. H., Durandy, A., Moshous, D., Vellodi, A., Chiesa, R., Veys, P., Lo Iacono, N., Vezzoni, P. & 3 others, Fischer, A., Villa, A. & Sobacchi, C., 2012, In : Journal of Bone and Mineral Research. 27, 2, p. 342-351 10 p.

Research output: Contribution to journalArticle

2010

Homeostatic expansion of autoreactive immunoglobulin-secreting cells in the Rag2 mouse model of Omenn syndrome

Cassani, B., Poliani, P. L., Marrella, V., Schena, F., Sauer, A. V., Ravanini, M., Strina, D., Busse, C. E., Regenass, S., Wardemann, H., Martini, A., Facchetti, F., Van Der Burg, M., Rolink, A. G., Vezzoni, P., Grassi, F., Traggiai, E. & Villa, A., Jul 5 2010, In : Journal of Experimental Medicine. 207, 7, p. 1525-1540 16 p.

Research output: Contribution to journalArticle

2001

V(D)J recombination defects in lymphocytes due to RAG mutations: Severe immunodeficiency with a spectrum of clinical presentations

Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F., Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash, M., Brooks, E. G., Conley, M. E., Cortes, P., Duse, M., Fasth, A., Filipovich, A. M., Infante, A. J., Jones, A., Mazzolari, E., Muller, S. M., Pasic, S., Rechavi, G. & 13 others, Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R., Strina, D., Ugazio, A., Väliaho, J., Vihinen, M., Vogler, L. B., Ochs, H., Vezzoni, P., Friedrich, W. & Schwarz, K., Jan 1 2001, In : Blood. 97, 1, p. 81-88 8 p.

Research output: Contribution to journalArticle

2000

Lymphoid abnormalities in CD40 ligand transgenic mice suggest the need for tight regulation in gene therapy approaches to hyper immunoglobulin M (IgM) syndrome

Sacco, M. G., Ungari, M., Catò, E. M., Villa, A., Strina, D., Notarangelo, L. D., Jonkers, J., Zecca, L., Facchetti, F. & Vezzoni, P., 2000, In : Cancer Gene Therapy. 7, 10, p. 1299-1306 8 p.

Research output: Contribution to journalArticle

Prenatal diagnosis of RAG-deficient Omenn syndrome

Villa, A., Bozzi, F., Sobacchi, C., Strina, D., Fasth, A., Pasic, S., Notarangelo, L. D. & Vezzoni, P., 2000, In : Prenatal Diagnosis. 20, 1, p. 56-59 4 p.

Research output: Contribution to journalArticle

1997

Structural and functional basis for JAK3-deficient severe combined immunodeficiency

Candotti, F., Oakes, S. A., Johnston, J. A., Giliani, S., Schumacher, R. F., Mella, P., Fiorini, M., Ugazio, A. G., Badolato, R., Notarangelo, L. D., Bozzi, F., Macchi, P., Strina, D., Vezzoni, P., Blaese, R. M., O'Shea, J. J. & Villa, A., Nov 15 1997, In : Blood. 90, 10, p. 3996-4003 8 p.

Research output: Contribution to journalArticle

1996

Partial regression, yet incomplete eradication of mammary tumors in transgenic mice by retrovirally mediated HSVtk transfer 'in vivo'

Sacco, M. G., Benedetti, S., Duflot-Dancer, A., Mesnil, M., Bagnasco, L., Strina, D., Fasolo, V., Villa, A., Macchi, P., Faranda, S., Vezzoni, P. & Finocchiaro, G., Dec 1996, In : Gene Therapy. 3, 12, p. 1151-1156 6 p.

Research output: Contribution to journalArticle

The exon-intron structure of human LHX1 gene

Bozzi, F., Bertuzzi, S., Strina, D., Giannetto, C., Vezzoni, P. & Villa, A., Dec 13 1996, In : Biochemical and Biophysical Research Communications. 229, 2, p. 494-497 4 p.

Research output: Contribution to journalArticle

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., Jul 15 1996, In : Genomics. 35, 2, p. 312-320 9 p.

Research output: Contribution to journalArticle

1995

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, M. G., Morali, F., Brugnoni, D., Giliani, S., Mantuano, E., Fasth, A., Andersson, B., Zegers, B. J. M., Cavagni, G., Reznick, I., Levy, J., Zan-Bar, I., Porat, Y., Airo, P., Plebani, A., Vezzoni, P. & Notarangelo, L. D., 1995, In : American Journal of Human Genetics. 56, 4, p. 898-906 9 p.

Research output: Contribution to journalArticle

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

Macchi, P., Notarangelo, L., Giliani, S., Strina, D., Repetto, M., Sacco, M. G., Vezzoni, P. & Villa, A., 1995, In : Genomics. 28, 3, p. 491-494 4 p.

Research output: Contribution to journalArticle

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, M. C., Ramenghi, U., Sacco, M. G., Ugazio, A. & Vezzoni, P., 1995, In : Nature Genetics. 9, 4, p. 414-417 4 p.

Research output: Contribution to journalArticle

1994

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, M. C., Vezzoni, P., Tovo, P. A., Giliani, S., Ugazio, A. G. & Notarangelo, L. D., 1994, In : Human Mutation. 3, 1, p. 73-75 3 p.

Research output: Contribution to journalArticle

Genomic organization of the human VP16 accessory protein, a housekeeping gene (HCFC1) mapping to Xq28

Frattini, A., Faranda, S., Redolfi, E., Zucchi, I., Villa, A., Patrosso, M. C., Strina, D., Susani, L. & Vezzoni, P., 1994, In : Genomics. 23, 1, p. 30-35 6 p.

Research output: Contribution to journalArticle

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

Villa, A., Notarangelo, L. D., Di Santo, J. P., Macchi, P. P., Strina, D., Frattini, A., Lucchini, F., Patrosso, C. M., Giliani, S., Mantuano, E., Agosti, S., Nocera, G., Kroczek, R. A., Fischer, A., Ugazio, A. G., De Saint Basile, G. & Vezzoni, P., Mar 15 1994, In : Proceedings of the National Academy of Sciences of the United States of America. 91, 6, p. 2110-2114 5 p.

Research output: Contribution to journalArticle

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., 1994, In : PCR Methods and Applications. 4, 2, p. 126-128 3 p.

Research output: Contribution to journalArticle

1993

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., 1993, In : Genome Research. 4, 2, p. 126-128 3 p.

Research output: Contribution to journalArticle

Type 2 Vasopressin Receptor Gene, the Gene Responsible for Nephrogenic Diabetes Insipidus, Maps to XQ28 Close to the L1CAM Gene

Frattini, A., Zucchi, I., Villa, A., Patrosso, C., Repetto, M., Susani, L., Strina, D., Redolfi, E., Vezzoni, P., Romano, G., Palmieri, G., Esposito, T. & Durso, M., Jun 30 1993, In : Biochemical and Biophysical Research Communications. 193, 3, p. 864-871 8 p.

Research output: Contribution to journalArticle

ZNF75: Isolation of a cDNA clone of the KRAB zinc finger gene subfamily mapped in YACs 1 Mb telomeric of HPRT

Villa, A., Zucchi, I., Pilia, G., Strina, D., Susani, L., Morali, F., Patrosso, C., Frattini, A., Lucchini, F., Repetto, M., Sacco, M. G., Zoppe, M. & Vezzoni, P., 1993, In : Genomics. 18, 2, p. 223-229 7 p.

Research output: Contribution to journalArticle

1992

Isolation of a zinc finger motif (ZNF75) mapping on chromosome Xq26

Villa, A., Patrosso, C., Biunno, I., Frattini, A., Repetto, M., Mostardini, M., Evans, G., Susani, L., Strina, D., Redolfi, E., Lazzari, B., Pellegrini, M. & Vezzoni, P., 1992, In : Genomics. 13, 4, p. 1231-1236 6 p.

Research output: Contribution to journalArticle