Villa A - 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: villa a. Immunol Today. 1996 Nov;17(11):511-6. doi: 10.1016/0167-5699(96)30059-5. Immunol Today. 1996. PMID: 8961627

2

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: villa a. Am J Hum Genet. 1995 Apr;56(4):898-906. Am J Hum Genet. 1995. PMID: 7717401 Free PMC article.

3

X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.

Villa A, Notarangelo L, Macchi P, Mantuano E, Cavagni G, Brugnoni D, Strina D, Patrosso MC, Ramenghi U, Sacco MG, et al. Villa A, et al. Nat Genet. 1995 Apr;9(4):414-7. doi: 10.1038/ng0495-414. Nat Genet. 1995. PMID: 7795648

4

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. Hum Mutat. 1994;3(1):73-5. doi: 10.1002/humu.1380030115. Hum Mutat. 1994. PMID: 7906987 No abstract available.

5

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. 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.

6

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: villa a. Immunol Rev. 1994 Apr;138:39-59. doi: 10.1111/j.1600-065x.1994.tb00846.x. Immunol Rev. 1994. PMID: 7915248 Review.

7

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. Cell. 1998 May 29;93(5):885-96. doi: 10.1016/s0092-8674(00)81448-8. Cell. 1998. PMID: 9630231 Free article.

8

Omenn syndrome: a disorder of Rag1 and Rag2 genes.

Villa A, Santagata S, Bozzi F, Imberti L, Notarangelo LD. Villa A, et al. J Clin Immunol. 1999 Mar;19(2):87-97. doi: 10.1023/a:1020550432126. J Clin Immunol. 1999. PMID: 10226883 Review.

9

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

10

RAG and RAG defects.

Notarangelo LD, Villa A, Schwarz K. Notarangelo LD, et al. Among authors: villa a. Curr Opin Immunol. 1999 Aug;11(4):435-42. doi: 10.1016/S0952-7915(99)80073-9. Curr Opin Immunol. 1999. PMID: 10448134 Review.

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