Albertini A - Search Results

1

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. Susani L, et al. Among authors: albertini a. Hum Mutat. 2004 Sep;24(3):225-35. doi: 10.1002/humu.20076. Hum Mutat. 2004. PMID: 15300850

2

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 EM, Mihci E, Notarangelo LD, Ramenghi U, Teti A, Van Hove J, Vujic D, Young T, Albertini A, Orchard PJ, Vezzoni P, Villa A. Frattini A, et al. Among authors: albertini a. J Bone Miner Res. 2003 Oct;18(10):1740-7. doi: 10.1359/jbmr.2003.18.10.1740. J Bone Miner Res. 2003. PMID: 14584882 Free article.

3

SMC1 involvement in fragile site expression.

Musio A, Montagna C, Mariani T, Tilenni M, Focarelli ML, Brait L, Indino E, Benedetti PA, Chessa L, Albertini A, Ried T, Vezzoni P. Musio A, et al. Among authors: albertini a. Hum Mol Genet. 2005 Feb 15;14(4):525-33. doi: 10.1093/hmg/ddi049. Epub 2005 Jan 7. Hum Mol Genet. 2005. PMID: 15640246

4

Gene expression profiles of epithelial cells microscopically isolated from a breast-invasive ductal carcinoma and a nodal metastasis.

Zucchi I, Mento E, Kuznetsov VA, Scotti M, Valsecchi V, Simionati B, Vicinanza E, Valle G, Pilotti S, Reinbold R, Vezzoni P, Albertini A, Dulbecco R. Zucchi I, et al. Among authors: albertini a. Proc Natl Acad Sci U S A. 2004 Dec 28;101(52):18147-52. doi: 10.1073/pnas.0408260101. Epub 2004 Dec 17. Proc Natl Acad Sci U S A. 2004. PMID: 15608061 Free PMC article.

5

Intrathymic restriction and peripheral expansion of the T-cell repertoire in Omenn syndrome.

Signorini S, Imberti L, Pirovano S, Villa A, Facchetti F, Ungari M, Bozzi F, Albertini A, Ugazio AG, Vezzoni P, Notarangelo LD. Signorini S, et al. Among authors: albertini a. Blood. 1999 Nov 15;94(10):3468-78. Blood. 1999. PMID: 10552957 Free article.

6

Association of rat8 with Fyn protein kinase via lipid rafts is required for rat mammary cell differentiation in vitro.

Zucchi I, Prinetti A, Scotti M, Valsecchi V, Valaperta R, Mento E, Reinbold R, Vezzoni P, Sonnino S, Albertini A, Dulbecco R. Zucchi I, et al. Among authors: albertini a. Proc Natl Acad Sci U S A. 2004 Feb 17;101(7):1880-5. doi: 10.1073/pnas.0307292101. Epub 2004 Feb 6. Proc Natl Acad Sci U S A. 2004. PMID: 14766990 Free PMC article.

7

The mammary gland and the homeobox gene Otx1.

Pagani IS, Terrinoni A, Marenghi L, Zucchi I, Chiaravalli AM, Serra V, Rovera F, Sirchia S, Dionigi G, Miozzo M, Frattini A, Ferrari A, Capella C, Pasquali F, Lo Curto F, Albertini A, Melino G, Porta G. Pagani IS, et al. Among authors: albertini a. Breast J. 2010 Sep-Oct;16 Suppl 1:S53-6. doi: 10.1111/j.1524-4741.2010.01006.x. Breast J. 2010. PMID: 21050313 Free article.

8

Analysis of X-chromosome inactivation in X-linked immunodeficiency with hyper-IgM (HIGM1): evidence for involvement of different hematopoietic cell lineages.

Notarangelo LD, Parolini O, Albertini A, Duse M, Mazzolari E, Plebani A, Camerino G, Ugazio AG. Notarangelo LD, et al. Among authors: albertini a. Hum Genet. 1991 Dec;88(2):130-4. doi: 10.1007/BF00206059. Hum Genet. 1991. PMID: 1757090

9

Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload.

Biasiotto G, Belloli S, Ruggeri G, Zanella I, Gerardi G, Corrado M, Gobbi E, Albertini A, Arosio P. Biasiotto G, et al. Among authors: albertini a. Clin Chem. 2003 Dec;49(12):1981-8. doi: 10.1373/clinchem.2003.023440. Clin Chem. 2003. PMID: 14633868

10

Evaluation of human gene variant detection in amplicon pools by the GS-FLX parallel Pyrosequencer.

Bordoni R, Bonnal R, Rizzi E, Carrera P, Benedetti S, Cremonesi L, Stenirri S, Colombo A, Montrasio C, Bonalumi S, Albertini A, Bernardi LR, Ferrari M, De Bellis G. Bordoni R, et al. Among authors: albertini a. BMC Genomics. 2008 Oct 8;9:464. doi: 10.1186/1471-2164-9-464. BMC Genomics. 2008. PMID: 18842124 Free PMC article.

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