Ursini MV - Search Results

1

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.

2

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

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

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

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

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.

7

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

8

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

9

Brain alteration in a Nude/SCID fetus carrying FOXN1 homozygous mutation.

Amorosi S, Vigliano I, Del Giudice E, Panico L, Maruotti GM, Fusco A, Quarantelli M, Ciccone C, Ursini MV, Martinelli P, Pignata C. Amorosi S, et al. Among authors: ursini mv. J Neurol Sci. 2010 Nov 15;298(1-2):121-3. doi: 10.1016/j.jns.2010.08.066. J Neurol Sci. 2010. PMID: 20864124

10

FOXN1 mutation abrogates prenatal T-cell development in humans.

Vigliano I, Gorrese M, Fusco A, Vitiello L, Amorosi S, Panico L, Ursini MV, Calcagno G, Racioppi L, Del Vecchio L, Pignata C. Vigliano I, et al. Among authors: ursini mv. J Med Genet. 2011 Jun;48(6):413-6. doi: 10.1136/jmg.2011.089532. Epub 2011 Apr 19. J Med Genet. 2011. PMID: 21507891

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