19912016

Research output per year

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Research Output

2016

Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human Osteopetrosis

Palagano, E., Susani, L., Menale, C., Ramenghi, U., Berger, M., Uva, P., Oppo, M., Vezzoni, P., Villa, A. & Sobacchi, C., 2016, (Accepted/In press) In : Journal of Bone and Mineral Research.

Research output: Contribution to journalArticle

Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human Osteopetrosis

Palagano, E., Susani, L., Menale, C., Ramenghi, U., Berger, M., Uva, P., Oppo, M., Vezzoni, P., Villa, A. & Sobacchi, C., 2016, (Accepted/In press) In : Journal of Bone and Mineral Research.

Research output: Contribution to journalArticle

2015

Chromosome transplantation as a novel approach for correcting complex genomic disorders

Paulis, M., Castelli, A., Susani, L., Lizier, M., Lagutina, I., Focarelli, M. L., Recordati, C., Uva, P., Faggioli, F., Neri, T., Scanziani, E., Galli, C., Lucchini, F., Villa, A. & Vezzoni, P., 2015, In : Oncotarget. 6, 34, p. 35218-35230 13 p.

Research output: Contribution to journalArticle

2014
2013

SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity

Pangrazio, A., Fasth, A., Sbardellati, A., Orchard, P. J., Kasow, K. A., Raza, J., Albayrak, C., Albayrak, D., Vanakker, O. M., De Moerloose, B., Vellodi, A., Notarangelo, L. D., Schlack, C., Strauss, G., Kühl, J. S., Caldana, E., Lo Iacono, N., Susani, L., Kornak, U., Schulz, A. & 3 others, Vezzoni, P., Villa, A. & Sobacchi, C., May 2013, In : Journal of Bone and Mineral Research. 28, 5, p. 1041-1049 9 p.

Research output: Contribution to journalArticle

2012

A homozygous contiguous gene deletion in chromosome 16p13.3 leads to autosomal recessive osteopetrosis in a Jordanian patient

Pangrazio, A., Frattini, A., Valli, R., Maserati, E., Susani, L., Vezzoni, P., Villa, A., Al-Herz, W. & Sobacchi, C., Oct 2012, In : Calcified Tissue International. 91, 4, p. 250-254 5 p.

Research output: Contribution to journalArticle

2009

Characterization of a novel Alu-Alu recombination-mediated genomic deletion in the TCIRG1 gene in five osteopetrotic patients

Pangrazio, A., Caldana, M. E., Sobacchi, C., Panaroni, C., Susani, L., Mihci, E., Cavaliere, M. L., Giliani, S., Villa, A. & Frattini, A., Jan 2009, In : Journal of Bone and Mineral Research. 24, 1, p. 162-167 6 p.

Research output: Contribution to journalArticle

Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA

Revenkova, E., Focarelli, M. L., Susani, L., Paulis, M., Bassi, M. T., Mannini, L., Frattini, A., Delia, D., Krantz, I., Vezzoni, P., Jessberger, R. & Musio, A., 2009, In : Human Molecular Genetics. 18, 3, p. 418-427 10 p.

Research output: Contribution to journalArticle

2008

Cell fusion is a physiological process in mouse liver

Faggioli, F., Sacco, M. G., Susani, L., Montagna, C. & Vezzoni, P., Nov 2008, In : Hepatology. 48, 5, p. 1655-1664 10 p.

Research output: Contribution to journalArticle

2007

Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL

Sobacchi, C., Frattini, A., Guerrini, M. M., Abinun, M., Pangrazio, A., Susani, L., Bredius, R., Mancini, G., Cant, A., Bishop, N., Grabowski, P., Del Fattore, A., Messina, C., Errigo, G., Coxon, F. P., Scott, D. I., Teti, A., Rogers, M. J., Vezzoni, P., Villa, A. & 1 others, Helfrich, M. H., Aug 2007, In : Nature Genetics. 39, 8, p. 960-962 3 p.

Research output: Contribution to journalArticle

2004

TCIRG1-dependent recessive osteopetrosis: Mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA

Susani, L., Pangrazio, A., Sobacchi, C., Taranta, A., Mortier, G., Savarirayan, R., Villa, A., Orchard, P., Vezzoni, P., Albertini, A., Frattini, A. & Pagani, F., Jul 26 2004, In : Human Mutation. 24, 3, p. 225-235 11 p.

Research output: Contribution to journalArticle

2003

Chloride Channel ClCN7 Mutations Are Responsible for Severe Recessive, Dominant, and Intermediate Osteopetrosis

Frattini, A., Pangrazio, A., Susani, L., Sobacchi, C., Mirolo, M., Abinun, M., Andolina, M., Flanagan, A., Horwitz, E. M., Mihci, E., Notarangelo, L. D., Ramenghi, U., Teti, A., Van Hove, J., Vujic, D., Young, T., Albertini, A., Orchard, P. J., Vezzoni, P. & Villa, A., Oct 2003, In : Journal of Bone and Mineral Research. 18, 10, p. 1740-1747 8 p.

Research output: Contribution to journalArticle

2002

Dome formation in cell cultures as expression of an early stage of lactogenic differentiation of the mammary gland

Zucchi, I., Bini, L., Albani, D., Valaperta, R., Liberatori, S., Raggiaschi, R., Montagna, C., Susani, L., Barbieri, O., Pallini, V., Vezzoni, P. & Dulbecco, R., Jun 25 2002, In : Proceedings of the National Academy of Sciences of the United States of America. 99, 13, p. 8660-8665 6 p.

Research output: Contribution to journalArticle

2001

Proteomic dissection of dome formation in a mammary cell line: Role of tropomyosin-5b and maspin

Zucchi, I., Bini, L., Valaperta, R., Ginestra, A., Albani, D., Susani, L., Sanchez, J. C., Liberatori, S., Magi, B., Raggiaschi, R., Hochstrasser, D. F., Pallini, V., Vezzoni, P. & Dulbecco, R., May 8 2001, In : Proceedings of the National Academy of Sciences of the United States of America. 98, 10, p. 5608-5613 6 p.

Research output: Contribution to journalArticle

1999

Genetic dissection of dome formation in a mammary cell line: Identification of two genes with opposing action

Zucchi, I., Montagna, C., Susani, L., Montesano, R., Affer, M., Zanotti, S., Redolfi, E., Vezzoni, P. & Dulbecco, R., Nov 23 1999, In : Proceedings of the National Academy of Sciences of the United States of America. 96, 24, p. 13766-13770 5 p.

Research output: Contribution to journalArticle

Mapping of the MYCL2 processed gene to Xq22-23 and identification of an additional L MYC-related sequence in Xq27.2

Redolfi, E., Pizzuti, A., Di Bacco, A., Susani, L., Labella, T., Affer, M., Montagna, C., Reinbold, R., Mumm, S., Vezzoni, P. & Zucchi, I., Mar 12 1999, In : FEBS Letters. 446, 2-3, p. 273-277 5 p.

Research output: Contribution to journalArticle

Po gene expression is modulated by androgens in the sciatic nerve of adult male rats

Magnaghi, V., Cavarretta, I., Zucchi, I., Susani, L., Rupprecht, R., Hermann, B., Martini, L. & Melcangi, R. C., Jun 18 1999, In : Molecular Brain Research. 70, 1, p. 36-44 9 p.

Research output: Contribution to journalArticle

Transcription map of Xq27: Candidates for several X-linked diseases

Zucchi, I., Jones, J., Affer, M., Montagna, C., Redolfi, E., Susani, L., Vezzoni, P., Parvari, R., Schlessinger, D., Whyte, M. P. & Mumm, S., Apr 15 1999, In : Genomics. 57, 2, p. 209-218 10 p.

Research output: Contribution to journalArticle

1998

Identification of CXorf1, a novel intronless gene in Xq27.3, expressed in human hippocampus

Redolfi, E., Montagna, C., Mumm, S., Affer, M., Susani, L., Reinbold, R., Hol, F., Vezzoni, P., Cimino, M. & Zucchi, I., Dec 1998, In : DNA and Cell Biology. 17, 12, p. 1009-1016 8 p.

Research output: Contribution to journalArticle

The rat gene homologous to the human gene 9-27 is involved in the development of the mammary gland

Zucchi, I., Montagna, C., Susani, L., Vezzoni, P. & Dulbecco, R., Feb 3 1998, In : Proceedings of the National Academy of Sciences of the United States of America. 95, 3, p. 1079-1084 6 p.

Research output: Contribution to journalArticle

1997

Construction of a 5-Mb YAC contig from the putative 10q25 tumor- suppressor region for glioblastomas

Albarosa, R., Finocchiaro, G., Chiariello, E., Russo, G., Susani, L., Vezzoni, P. & Zucchi, I., May 1 1997, In : Genomics. 41, 3, p. 345-349 5 p.

Research output: Contribution to journalArticle

1996

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

YAC/STS map across 12 Mb of Xq27 at 25-kb resolution, merging Xq26-qter

Zucchi, I., Mumm, S., Pilia, G., Macmillan, S., Reinbold, R., Susani, L., Weissenbach, J. & Schlessinger, D., May 15 1996, In : Genomics. 34, 1, p. 42-54 13 p.

Research output: Contribution to journalArticle

1994

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

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

Identification and purification of overlapping cosmid clones of the region Xq24-qter of human X chromosome using HPLC

Ida, B., Pierluigi, M., Lucia, S. & Piergiorgio, P., 1992, In : Genomics. 13, 4, p. 1353-1355 3 p.

Research output: Contribution to journalArticle

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

1991

Fidelity of a YAC clone in the region of human MCF-2 gene

Cristina Patrosso, M., Frattini, A., Susani, L., Vezzoni, P. & Villa, A., Dec 16 1991, In : Biochemical and Biophysical Research Communications. 181, 2, p. 877-883 7 p.

Research output: Contribution to journalArticle