Susani L - Search Results

1

Correction of a Recessive Genetic Defect by CRISPR-Cas9-Mediated Endogenous Repair.

Susani L, Castelli A, Lizier M, Lucchini F, Vezzoni P, Paulis M. Susani L, et al. CRISPR J. 2018 Jun;1:230-238. doi: 10.1089/crispr.2018.0004. CRISPR J. 2018. PMID: 31021260

2

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

Patrosso MC, Frattini A, Susani L, Vezzoni P, Villa A. Patrosso MC, et al. Among authors: susani l. Biochem Biophys Res Commun. 1991 Dec 16;181(2):877-83. doi: 10.1016/0006-291x(91)91272-e. Biochem Biophys Res Commun. 1991. PMID: 1684496

3

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. Zucchi I, et al. Among authors: susani l. Proc Natl Acad Sci U S A. 1998 Feb 3;95(3):1079-84. doi: 10.1073/pnas.95.3.1079. Proc Natl Acad Sci U S A. 1998. PMID: 9448288 Free PMC article.

4

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: susani l. 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.

5

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. Hum Mutat. 2004 Sep;24(3):225-35. doi: 10.1002/humu.20076. Hum Mutat. 2004. PMID: 15300850

6

Cell fusion is a physiological process in mouse liver.

Faggioli F, Sacco MG, Susani L, Montagna C, Vezzoni P. Faggioli F, et al. Among authors: susani l. Hepatology. 2008 Nov;48(5):1655-64. doi: 10.1002/hep.22488. Hepatology. 2008. PMID: 18925640

7

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

Revenkova E, Focarelli ML, Susani L, Paulis M, Bassi MT, Mannini L, Frattini A, Delia D, Krantz I, Vezzoni P, Jessberger R, Musio A. Revenkova E, et al. Among authors: susani l. Hum Mol Genet. 2009 Feb 1;18(3):418-27. doi: 10.1093/hmg/ddn369. Epub 2008 Nov 7. Hum Mol Genet. 2009. PMID: 18996922 Free PMC article.

8

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. Pangrazio A, et al. Among authors: susani l. Calcif Tissue Int. 2012 Oct;91(4):250-4. doi: 10.1007/s00223-012-9631-4. Epub 2012 Jul 31. Calcif Tissue Int. 2012. PMID: 22847576

9

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

Pangrazio A, Fasth A, Sbardellati A, Orchard PJ, Kasow KA, Raza J, Albayrak C, Albayrak D, Vanakker OM, De Moerloose B, Vellodi A, Notarangelo LD, Schlack C, Strauss G, Kühl JS, Caldana E, Lo Iacono N, Susani L, Kornak U, Schulz A, Vezzoni P, Villa A, Sobacchi C. Pangrazio A, et al. Among authors: susani l. J Bone Miner Res. 2013 May;28(5):1041-9. doi: 10.1002/jbmr.1849. J Bone Miner Res. 2013. PMID: 23280965 Free article.

10

As little as needed: the extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene.

Sobacchi C, Pangrazio A, Lopez AG, Gomez DP, Caldana ME, Susani L, Vezzoni P, Villa A. Sobacchi C, et al. Among authors: susani l. J Bone Miner Res. 2014 Jul;29(7):1646-50. doi: 10.1002/jbmr.2203. J Bone Miner Res. 2014. PMID: 24535816 Free PMC article.

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