Giliani S - Search Results

1

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.

2

Ischaemic cerebral small vessel disease caused by adenosine deaminase 2 deficiency syndrome.

Giossi A, Giliani SC, Gamba M, Toniati P, Magoni M, Pezzini A. Giossi A, et al. Eur J Neurol. 2023 Apr;30(4):1148-1151. doi: 10.1111/ene.15708. Epub 2023 Feb 7. Eur J Neurol. 2023. PMID: 36692946

3

The genomic organization of the human transcription factor 3 (TFE3) gene.

Macchi P, Notarangelo L, Giliani S, Strina D, Repetto M, Sacco MG, Vezzoni P, Villa A. Macchi P, et al. Among authors: giliani s. Genomics. 1995 Aug 10;28(3):491-4. doi: 10.1006/geno.1995.1179. Genomics. 1995. PMID: 7490085

4

Mutation analysis in Wiskott Aldrich syndrome on chorionic villus DNA.

Wengler GS, Notarangelo LD, Giliani S, Pirastru MG, Ugazio AG, Parolini O. Wengler GS, et al. Among authors: giliani s. Lancet. 1995 Sep 2;346(8975):641-2. doi: 10.1016/s0140-6736(95)91477-3. Lancet. 1995. PMID: 7651032 No abstract available.

5

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

6

Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hyper IgM syndrome of various ancestry.

Macchi P, Villa A, Strina D, Sacco MG, Morali F, Brugnoni D, Giliani S, Mantuano E, Fasth A, Andersson B, et al. Macchi P, et al. Among authors: giliani s. Am J Hum Genet. 1995 Apr;56(4):898-906. Am J Hum Genet. 1995. PMID: 7717401 Free PMC article.

7

C to T mutation causing premature termination of CD40 ligand at amino acid 221 in a patient affected by hyper IgM syndrome.

Villa A, Strina D, Macchi P, Patrosso MC, Vezzoni P, Tovo PA, Giliani S, Ugazio AG, Notarangelo LD. Villa A, et al. Among authors: giliani s. Hum Mutat. 1994;3(1):73-5. doi: 10.1002/humu.1380030115. Hum Mutat. 1994. PMID: 7906987 No abstract available.

8

Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis.

Villa A, Notarangelo LD, Di Santo JP, Macchi PP, Strina D, Frattini A, Lucchini F, Patrosso CM, Giliani S, Mantuano E, et al. Villa A, et al. Among authors: giliani s. Proc Natl Acad Sci U S A. 1994 Mar 15;91(6):2110-4. doi: 10.1073/pnas.91.6.2110. Proc Natl Acad Sci U S A. 1994. PMID: 7907793 Free PMC article.

9

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.

10

Molecular analysis of X-linked immunodeficiency with hyper-IgM and X-linked lymphoproliferative syndrome.

Notarangelo LD, Mantuano E, Bione S, Gimbo E, Giliani S, Caraffini A, Purtilo D, Farr C, Ugazio AG, Toniolo D. Notarangelo LD, et al. Among authors: giliani s. Immunodeficiency. 1993;4(1-4):225-9. Immunodeficiency. 1993. PMID: 8167706 No abstract available.

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