Giliani S - Search Results

1

CD40lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome.

Notarangelo LD, Peitsch MC, Abrahamsen TG, Bachelot C, Bordigoni P, Cant AJ, Chapel H, Clementi M, Deacock S, de Saint Basile G, Duse M, Espanol T, Etzioni A, Fasth A, Fischer A, Giliani S, Gomez L, Hammarstorm L, Jones A, Kanariou M, Kinnon C, Klemola T, Kroczek RA, Levy J, Matamoros N, Monafo V, Paolucci P, Reznick I, Sanal O, Smith CI, Thompson RA, Tovo P, Villa A, Vihinen M, Vossen J, Zegers BJ. Notarangelo LD, et al. Among authors: giliani s. Immunol Today. 1996 Nov;17(11):511-6. doi: 10.1016/0167-5699(96)30059-5. Immunol Today. 1996. PMID: 8961627

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

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.

5

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.

6

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.

7

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.

8

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.

9

Application of molecular analysis to genetic counseling in the Wiskott-Aldrich syndrome (WAS).

Notarangelo LD, Candotti F, Parolini O, Mantuano E, Giliani S, Lanfranchi A, Albertini A. Notarangelo LD, et al. Among authors: giliani s. DNA Cell Biol. 1993 Sep;12(7):645-9. doi: 10.1089/dna.1993.12.645. DNA Cell Biol. 1993. PMID: 8397823

10

A boy with X-linked hyper-IgM syndrome and natural killer cell deficiency.

Ostenstad B, Giliani S, Mellbye OJ, Nilsen BR, Abrahamsen T. Ostenstad B, et al. Among authors: giliani s. Clin Exp Immunol. 1997 Feb;107(2):230-4. doi: 10.1111/j.1365-2249.1997.284-ce1174.x. Clin Exp Immunol. 1997. PMID: 9030857 Free PMC article.

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