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

2

Pathological 25 kDa C-Terminal Fragments of TDP-43 Are Present in Lymphoblastoid Cell Lines and Extracellular Vesicles from Patients Affected by Frontotemporal Lobar Degeneration and Neuronal Ceroidolipofuscinosis Carrying a GRN Mutation.

Cimini S, Bellini S, Saraceno C, Benussi L, Ghidoni R, Giliani SC, Puoti G, Canafoglia L, Giaccone G, Rossi G. Cimini S, et al. Among authors: giliani sc. Int J Mol Sci. 2022 Nov 9;23(22):13753. doi: 10.3390/ijms232213753. Int J Mol Sci. 2022. PMID: 36430231 Free PMC article.

3

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

4

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

5

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.

6

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

7

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.

8

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.

9

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.

10

Ineffective expression of CD40 ligand on cord blood T cells may contribute to poor immunoglobulin production in the newborn.

Brugnoni D, Airò P, Graf D, Marconi M, Lebowitz M, Plebani A, Giliani S, Malacarne F, Cattaneo R, Ugazio AG, et al. Brugnoni D, et al. Among authors: giliani s. Eur J Immunol. 1994 Aug;24(8):1919-24. doi: 10.1002/eji.1830240831. Eur J Immunol. 1994. PMID: 7914490

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