Fiorini M - Search Results

1

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: fiorini m. Blood. 1997 Nov 15;90(10):3996-4003. Blood. 1997. PMID: 9354668 Free article.

2

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: fiorini m. Prenat Diagn. 1999 Jul;19(7):653-6. Prenat Diagn. 1999. PMID: 10419614

3

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: fiorini m. Hum Genet. 2000 Jan;106(1):73-9. doi: 10.1007/s004390051012. Hum Genet. 2000. PMID: 10982185

4

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: fiorini m. 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.

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. Among authors: fiorini m. Clin Immunol. 2000 Apr;95(1 Pt 1):39-50. doi: 10.1006/clim.2000.4842. Clin Immunol. 2000. PMID: 10794431

6

Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency. Defects of the gamma(c)-JAK3 signaling pathway as a model.

Notarangelo LD, Giliani S, Mazza C, Mella P, Savoldi G, Rodriguez-Pérez C, Mazzolari E, Fiorini M, Duse M, Plebani A, Ugazio AG, Vihinen M, Candotti F, Schumacher RF. Notarangelo LD, et al. Among authors: fiorini m. Immunol Rev. 2000 Dec;178:39-48. doi: 10.1034/j.1600-065x.2000.17812.x. Immunol Rev. 2000. PMID: 11213805 Review.

7

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: fiorini m. Lancet. 1996 Nov 30;348(9040):1484-7. doi: 10.1016/s0140-6736(96)09392-0. Lancet. 1996. PMID: 8942778

8

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: fiorini m. 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.

9

BTK: 22 novel and 25 recurrent mutations in European patients with X-linked agammaglobulinemia.

Fiorini M, Franceschini R, Soresina A, Schumacher RF, Ugazio AG, Rossi P, Plebani A, Notarangelo LD. Fiorini M, et al. Hum Mutat. 2004 Mar;23(3):286. doi: 10.1002/humu.9219. Hum Mutat. 2004. PMID: 14974089

10

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: fiorini m. Life Sci. 1997;61(14):1405-11. doi: 10.1016/s0024-3205(97)00686-3. Life Sci. 1997. PMID: 9335230

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