Giliani S - Search Results

1

Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutations.

Matangkasombut P, Pichavant M, Saez DE, Giliani S, Mazzolari E, Finocchi A, Villa A, Sobacchi C, Cortes P, Umetsu DT, Notarangelo LD. Matangkasombut P, et al. Among authors: giliani s. Blood. 2008 Jan 1;111(1):271-4. doi: 10.1182/blood-2007-06-096487. Epub 2007 Sep 21. Blood. 2008. PMID: 17890453 Free PMC article.

2

Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID).

Macchi P, Villa A, Giliani S, Sacco MG, Frattini A, Porta F, Ugazio AG, Johnston JA, Candotti F, O'Shea JJ, et al. Macchi P, et al. Among authors: giliani s. Nature. 1995 Sep 7;377(6544):65-8. doi: 10.1038/377065a0. Nature. 1995. PMID: 7659163

3

Defective expression of CD40 ligand on T cells causes "X-linked immunodeficiency with hyper-IgM (HIGM1)".

Kroczek RA, Graf D, Brugnoni D, Giliani S, Korthüer U, Ugazio A, Senger G, Mages HW, Villa A, Notarangelo LD. Kroczek RA, et al. Among authors: giliani s. Immunol Rev. 1994 Apr;138:39-59. doi: 10.1111/j.1600-065x.1994.tb00846.x. Immunol Rev. 1994. PMID: 7915248 Review.

4

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

5

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

6

Partial V(D)J recombination activity leads to Omenn syndrome.

Villa A, Santagata S, Bozzi F, Giliani S, Frattini A, Imberti L, Gatta LB, Ochs HD, Schwarz K, Notarangelo LD, Vezzoni P, Spanopoulou E. Villa A, et al. Among authors: giliani s. Cell. 1998 May 29;93(5):885-96. doi: 10.1016/s0092-8674(00)81448-8. Cell. 1998. PMID: 9630231 Free article.

7

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: giliani s. 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.

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

9

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: giliani s. Clin Immunol. 2000 Apr;95(1 Pt 1):39-50. doi: 10.1006/clim.2000.4842. Clin Immunol. 2000. PMID: 10794431

10

Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis.

Frattini A, Orchard PJ, Sobacchi C, Giliani S, Abinun M, Mattsson JP, Keeling DJ, Andersson AK, Wallbrandt P, Zecca L, Notarangelo LD, Vezzoni P, Villa A. Frattini A, et al. Among authors: giliani s. Nat Genet. 2000 Jul;25(3):343-6. doi: 10.1038/77131. Nat Genet. 2000. PMID: 10888887

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