Mella P - Search Results

1

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.

2

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.

3

Mutation analysis by a non-radioactive single-strand conformation polymorphism assay in nine families with X-linked severe combined immunodeficiency (SCIDX1).

Wengler GS, Giliani S, Fiorini M, Mella P, Mantuano E, Zanola A, Pollonini G, Eibl MM, Ugazio AG, Notarangelo LD, Parolini O. Wengler GS, et al. Among authors: mella p. Br J Haematol. 1998 Jun;101(3):586-91. doi: 10.1046/j.1365-2141.1998.00721.x. Br J Haematol. 1998. PMID: 9633906 Free article.

4

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

5

In-utero transplantation of parental CD34 haematopoietic progenitor cells in a patient with X-linked severe combined immunodeficiency (SCIDXI).

Wengler GS, Lanfranchi A, Frusca T, Verardi R, Neva A, Brugnoni D, Giliani S, Fiorini M, Mella P, Guandalini F, Mazzolari E, Pecorelli S, Notarangelo LD, Porta F, Ugazio AG. Wengler GS, et al. Among authors: mella p. Lancet. 1996 Nov 30;348(9040):1484-7. doi: 10.1016/s0140-6736(96)09392-0. Lancet. 1996. PMID: 8942778

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

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.

8

Prenatal diagnosis of JAK3 deficient SCID.

Schumacher RF, Mella P, Lalatta F, Fiorini M, Giliani S, Villa A, Candotti F, Notarangelo LD. Schumacher RF, et al. Among authors: mella p. Prenat Diagn. 1999 Jul;19(7):653-6. Prenat Diagn. 1999. PMID: 10419614

9

Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism.

Schumacher RF, Mella P, Badolato R, Fiorini M, Savoldi G, Giliani S, Villa A, Candotti F, Tampalini A, O'Shea JJ, Notarangelo LD. Schumacher RF, et al. Among authors: mella p. Hum Genet. 2000 Jan;106(1):73-9. doi: 10.1007/s004390051012. Hum Genet. 2000. PMID: 10982185

10

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.

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