Ursini MV - Search Results

1

A91V perforin variation in healthy subjects and FHLH patients.

Busiello R, Fimiani G, Miano MG, Aricò M, Santoro A, Ursini MV, Pignata C. Busiello R, et al. Among authors: ursini mv. Int J Immunogenet. 2006 Apr;33(2):123-5. doi: 10.1111/j.1744-313X.2006.00582.x. Int J Immunogenet. 2006. PMID: 16611257

2

Atypical features of familial hemophagocytic lymphohistiocytosis.

Busiello R, Adriani M, Locatelli F, Galgani M, Fimiani G, Clementi R, Ursini MV, Racioppi L, Pignata C. Busiello R, et al. Among authors: ursini mv. Blood. 2004 Jun 15;103(12):4610-2. doi: 10.1182/blood-2003-10-3551. Epub 2004 Jan 22. Blood. 2004. PMID: 14739222 Free article.

3

Abnormal GH receptor signaling in children with idiopathic short stature.

Salerno M, Balestrieri B, Matrecano E, Officioso A, Rosenfeld RG, Di Maio S, Fimiani G, Ursini MV, Pignata C. Salerno M, et al. Among authors: ursini mv. J Clin Endocrinol Metab. 2001 Aug;86(8):3882-8. doi: 10.1210/jcem.86.8.7759. J Clin Endocrinol Metab. 2001. PMID: 11502828

4

Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population.

Adriani M, Martinez-Mir A, Fusco F, Busiello R, Frank J, Telese S, Matrecano E, Ursini MV, Christiano AM, Pignata C. Adriani M, et al. Among authors: ursini mv. Ann Hum Genet. 2004 May;68(Pt 3):265-8. doi: 10.1046/j.1529-8817.2004.00091.x. Ann Hum Genet. 2004. PMID: 15180707

5

Atypical X-linked SCID phenotype associated with growth hormone hyporesponsiveness.

Ursini MV, Gaetaniello L, Ambrosio R, Matrecano E, Apicella AJ, Salerno MC, Pignata C. Ursini MV, et al. Clin Exp Immunol. 2002 Sep;129(3):502-9. doi: 10.1046/j.1365-2249.2002.01823.x. Clin Exp Immunol. 2002. PMID: 12197892 Free PMC article.

6

Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation.

Fusco F, Bardaro T, Fimiani G, Mercadante V, Miano MG, Falco G, Israël A, Courtois G, D'Urso M, Ursini MV. Fusco F, et al. Among authors: ursini mv. Hum Mol Genet. 2004 Aug 15;13(16):1763-73. doi: 10.1093/hmg/ddh192. Epub 2004 Jun 30. Hum Mol Genet. 2004. PMID: 15229184

7

Brain migration disorder and T-cell activation deficiency associated with abnormal signaling through TCR/CD3 complex and hyperactivity of Fyn tyrosine kinase.

Del Giudice E, Gaetaniello L, Matrecano E, Cosentini E, Ursini MV, Racioppi L, Arrigo G, Pignata C. Del Giudice E, et al. Among authors: ursini mv. Neuropediatrics. 2000 Oct;31(5):265-8. doi: 10.1055/s-2000-9234. Neuropediatrics. 2000. PMID: 11204284

8

Hyper IgM syndrome presenting as chronic suppurative lung disease.

Montella S, Maglione M, Giardino G, Di Giorgio A, Palamaro L, Mirra V, Ursini MV, Salerno M, Pignata C, Caffarelli C, Santamaria F. Montella S, et al. Among authors: ursini mv. Ital J Pediatr. 2012 Sep 19;38:45. doi: 10.1186/1824-7288-38-45. Ital J Pediatr. 2012. PMID: 22992442 Free PMC article.

9

The structure of human STAT5A and B genes reveals two regions of nearly identical sequence and an alternative tissue specific STAT5B promoter.

Ambrosio R, Fimiani G, Monfregola J, Sanzari E, De Felice N, Salerno MC, Pignata C, D'Urso M, Ursini MV. Ambrosio R, et al. Among authors: ursini mv. Gene. 2002 Feb 20;285(1-2):311-8. doi: 10.1016/s0378-1119(02)00421-3. Gene. 2002. PMID: 12039059

10

Heterozygosity mapping by quantitative fluorescent PCR reveals an interstitial deletion in Xq26.2-q28 associated with ovarian dysfunction.

Fimiani G, Laperuta C, Falco G, Ventruto V, D'Urso M, Ursini MV, Miano MG. Fimiani G, et al. Among authors: ursini mv. Hum Reprod. 2006 Feb;21(2):529-35. doi: 10.1093/humrep/dei356. Epub 2005 Oct 20. Hum Reprod. 2006. PMID: 16239311

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