Giliani S - Search Results

1

Intronic SH2D1A mutation with impaired SAP expression and agammaglobulinemia.

Recher M, Fried AJ, Massaad MJ, Kim HY, Rizzini M, Frugoni F, Walter JE, Mathew D, Eibel H, Hess C, Giliani S, Umetsu DT, Notarangelo LD, Geha RS. Recher M, et al. Among authors: giliani s. Clin Immunol. 2013 Feb;146(2):84-9. doi: 10.1016/j.clim.2012.11.007. Epub 2012 Dec 7. Clin Immunol. 2013. PMID: 23280491 Free PMC article.

2

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

3

Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease.

Lappalainen I, Giliani S, Franceschini R, Bonnefoy JY, Duckett C, Notarangelo LD, Vihinen M. Lappalainen I, et al. Among authors: giliani s. Biochem Biophys Res Commun. 2000 Mar 5;269(1):124-30. doi: 10.1006/bbrc.2000.2146. Biochem Biophys Res Commun. 2000. PMID: 10694488

4

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

5

X-linked lymphoproliferative disease. 2B4 molecules displaying inhibitory rather than activating function are responsible for the inability of natural killer cells to kill Epstein-Barr virus-infected cells.

Parolini S, Bottino C, Falco M, Augugliaro R, Giliani S, Franceschini R, Ochs HD, Wolf H, Bonnefoy JY, Biassoni R, Moretta L, Notarangelo LD, Moretta A. Parolini S, et al. Among authors: giliani s. J Exp Med. 2000 Aug 7;192(3):337-46. doi: 10.1084/jem.192.3.337. J Exp Med. 2000. PMID: 10934222 Free PMC article.

6

Mutations of the X-linked lymphoproliferative disease gene SH2D1A mimicking common variable immunodeficiency.

Soresina A, Lougaris V, Giliani S, Cardinale F, Armenio L, Cattalini M, Notarangelo LD, Plebani A. Soresina A, et al. Among authors: giliani s. Eur J Pediatr. 2002 Dec;161(12):656-9. doi: 10.1007/s00431-002-1083-9. Epub 2002 Oct 23. Eur J Pediatr. 2002. PMID: 12447665

7

Primary immune deficiencies unravel the molecular basis of immune response.

Notarangelo LD, Giliani S, Mazzolari E, Gulino AV. Notarangelo LD, et al. Among authors: giliani s. Rev Clin Exp Hematol. 2003 Mar;7(1):84-111. Rev Clin Exp Hematol. 2003. PMID: 14692236 Review.

8

Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation.

Jin Y, Mazza C, Christie JR, Giliani S, Fiorini M, Mella P, Gandellini F, Stewart DM, Zhu Q, Nelson DL, Notarangelo LD, Ochs HD. Jin Y, et al. Among authors: giliani s. Blood. 2004 Dec 15;104(13):4010-9. doi: 10.1182/blood-2003-05-1592. Epub 2004 Jul 29. Blood. 2004. PMID: 15284122 Free article.

9

A novel activation-induced cytidine deaminase gene mutation in a Tunisian family with hyper IgM syndrome.

Fiorini C, Jilani S, Losi CG, Silini A, Giliani S, Ferrari S, Notarangelo LD, Plebani A, Sfar T, Helal A. Fiorini C, et al. Among authors: giliani s. Eur J Pediatr. 2004 Dec;163(12):704-8. doi: 10.1007/s00431-004-1540-8. Eur J Pediatr. 2004. PMID: 15372234

10

Hematopoietic stem cell transplantation in Omenn syndrome: a single-center experience.

Mazzolari E, Moshous D, Forino C, De Martiis D, Offer C, Lanfranchi A, Giliani S, Imberti L, Pasic S, Ugazio AG, Porta F, Notarangelo LD. Mazzolari E, et al. Among authors: giliani s. Bone Marrow Transplant. 2005 Jul;36(2):107-14. doi: 10.1038/sj.bmt.1705017. Bone Marrow Transplant. 2005. PMID: 15908971

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