Mella P - Search Results

1

Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation.

Jin Y, Mazza C, Christie JR, Giliani S, Fiorini M, Mella P, Gandellini F, Stewart DM, Zhu Q, Nelson DL, Notarangelo LD, Ochs HD. Jin Y, et al. Among authors: mella p. Blood. 2004 Dec 15;104(13):4010-9. doi: 10.1182/blood-2003-05-1592. Epub 2004 Jul 29. Blood. 2004. PMID: 15284122 Free article.

2

High prevalence of nonsense, frame shift, and splice-site mutations in 16 patients with full-blown Wiskott-Aldrich syndrome.

Wengler GS, Notarangelo LD, Berardelli S, Pollonni G, Mella P, Fasth A, Ugazio AG, Parolini O. Wengler GS, et al. Among authors: mella p. Blood. 1995 Nov 15;86(10):3648-54. Blood. 1995. PMID: 7579329 Free article.

3

Prenatal molecular diagnosis of Wiskott-Aldrich syndrome by direct mutation analysis.

Giliani S, Fiorini M, Mella P, Candotti F, Schumacher RF, Wengler GS, Lalatta F, Fasth A, Badolato R, Ugazio AG, Albertini A, Notarangelo LD. Giliani S, et al. Among authors: mella p. Prenat Diagn. 1999 Jan;19(1):36-40. Prenat Diagn. 1999. PMID: 10073904

4

Structural and functional basis for JAK3-deficient severe combined immunodeficiency.

Candotti F, Oakes SA, Johnston JA, Giliani S, Schumacher RF, Mella P, Fiorini M, Ugazio AG, Badolato R, Notarangelo LD, Bozzi F, Macchi P, Strina D, Vezzoni P, Blaese RM, O'Shea JJ, Villa A. Candotti F, et al. Among authors: mella p. Blood. 1997 Nov 15;90(10):3996-4003. Blood. 1997. PMID: 9354668 Free article.

5

Development of autologous T lymphocytes in two males with X-linked severe combined immune deficiency: molecular and cellular characterization.

Mella P, Imberti L, Brugnoni D, Pirovano S, Candotti F, Mazzolari E, Bettinardi A, Fiorini M, De Mattia D, Martire B, Plebani A, Notarangelo LD, Giliani S. Mella P, et al. Clin Immunol. 2000 Apr;95(1 Pt 1):39-50. doi: 10.1006/clim.2000.4842. Clin Immunol. 2000. PMID: 10794431

6

A PCR-based non-radioactive X-chromosome inactivation assay for genetic counseling in X-linked primary immunodeficiencies.

Wengler GS, Parolini O, Fiorini M, Mella P, Smith H, Ugazio AG, Notarangelo LD. Wengler GS, et al. Among authors: mella p. Life Sci. 1997;61(14):1405-11. doi: 10.1016/s0024-3205(97)00686-3. Life Sci. 1997. PMID: 9335230

7

Eleven novel JAK3 mutations in patients with severe combined immunodeficiency-including the first patients with mutations in the kinase domain.

Mella P, Schumacher RF, Cranston T, de Saint Basile G, Savoldi G, Notarangelo LD. Mella P, et al. Hum Mutat. 2001 Oct;18(4):355-6. doi: 10.1002/humu.1199. Hum Mutat. 2001. PMID: 11668621

8

Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency.

Notarangelo LD, Mella P, Jones A, de Saint Basile G, Savoldi G, Cranston T, Vihinen M, Schumacher RF. Notarangelo LD, et al. Among authors: mella p. Hum Mutat. 2001 Oct;18(4):255-63. doi: 10.1002/humu.1188. Hum Mutat. 2001. PMID: 11668610 Review.

9

Development of autologous, oligoclonal, poorly functioning T lymphocytes in a patient with autosomal recessive severe combined immunodeficiency caused by defects of the Jak3 tyrosine kinase.

Brugnoni D, Notarangelo LD, Sottini A, Airò P, Pennacchio M, Mazzolari E, Signorini S, Candotti F, Villa A, Mella P, Vezzoni P, Cattaneo R, Ugazio AG, Imberti L. Brugnoni D, et al. Among authors: mella p. Blood. 1998 Feb 1;91(3):949-55. Blood. 1998. PMID: 9446656 Free article.

10

Cytokine-mediated signalling and early defects in lymphoid development.

Giliani S, Mella P, Savoldi G, Mazzolari E. Giliani S, et al. Among authors: mella p. Curr Opin Allergy Clin Immunol. 2005 Dec;5(6):519-24. doi: 10.1097/01.all.0000191889.35516.b6. Curr Opin Allergy Clin Immunol. 2005. PMID: 16264332 Review.

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