Ugazio AG - Search Results

1

High prevalence of nonsense, frame shift, and splice-site mutations in 16 patients with full-blown Wiskott-Aldrich syndrome.

Wengler GS, Notarangelo LD, Berardelli S, Pollonni G, Mella P, Fasth A, Ugazio AG, Parolini O. Wengler GS, et al. Among authors: ugazio ag. Blood. 1995 Nov 15;86(10):3648-54. Blood. 1995. PMID: 7579329 Free article.

2

Analysis of X-chromosome inactivation and presumptive expression of the Wiskott-Aldrich syndrome (WAS) gene in hematopoietic cell lineages of a thrombocytopenic carrier female of WAS.

Notarangelo LD, Parolini O, Porta F, Locatelli F, Lanfranchi A, Marconi M, Nespoli L, Albertini A, Craig IW, Ugazio AG. Notarangelo LD, et al. Among authors: ugazio ag. Hum Genet. 1991 Dec;88(2):237-41. doi: 10.1007/BF00206081. Hum Genet. 1991. PMID: 1684569

3

Presentation of Wiskott Aldrich syndrome as isolated thrombocytopenia.

Notarangelo LD, Parolini O, Faustini R, Porteri V, Albertini A, Ugazio AG. Notarangelo LD, et al. Among authors: ugazio ag. Blood. 1991 Mar 1;77(5):1125-6. Blood. 1991. PMID: 1995098 Free article. No abstract available.

4

Mutation analysis by a non-radioactive single-strand conformation polymorphism assay in nine families with X-linked severe combined immunodeficiency (SCIDX1).

Wengler GS, Giliani S, Fiorini M, Mella P, Mantuano E, Zanola A, Pollonini G, Eibl MM, Ugazio AG, Notarangelo LD, Parolini O. Wengler GS, et al. Among authors: ugazio ag. Br J Haematol. 1998 Jun;101(3):586-91. doi: 10.1046/j.1365-2141.1998.00721.x. Br J Haematol. 1998. PMID: 9633906 Free article.

5

Prenatal molecular diagnosis of Wiskott-Aldrich syndrome by direct mutation analysis.

Giliani S, Fiorini M, Mella P, Candotti F, Schumacher RF, Wengler GS, Lalatta F, Fasth A, Badolato R, Ugazio AG, Albertini A, Notarangelo LD. Giliani S, et al. Among authors: ugazio ag. Prenat Diagn. 1999 Jan;19(1):36-40. Prenat Diagn. 1999. PMID: 10073904

6

Immunodeficiency with hyper-IgM (HIM).

Notarangelo LD, Duse M, Ugazio AG. Notarangelo LD, et al. Among authors: ugazio ag. Immunodefic Rev. 1992;3(2):101-21. Immunodefic Rev. 1992. PMID: 1554497 Review.

7

[Primary immunodeficiency 1991: new uses and prospects of genetic counseling].

Notarangelo LD, Parolini O, Lusardi M, Mazzolari E, Ugazio AG. Notarangelo LD, et al. Among authors: ugazio ag. Pediatr Med Chir. 1991 Mar-Apr;13(2):129-33. Pediatr Med Chir. 1991. PMID: 1896377 Review. Italian.

8

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: ugazio ag. Lancet. 1995 Sep 2;346(8975):641-2. doi: 10.1016/s0140-6736(95)91477-3. Lancet. 1995. PMID: 7651032 No abstract available.

9

A PCR-based non-radioactive X-chromosome inactivation assay for genetic counseling in X-linked primary immunodeficiencies.

Wengler GS, Parolini O, Fiorini M, Mella P, Smith H, Ugazio AG, Notarangelo LD. Wengler GS, et al. Among authors: ugazio ag. Life Sci. 1997;61(14):1405-11. doi: 10.1016/s0024-3205(97)00686-3. Life Sci. 1997. PMID: 9335230

10

Development of autologous, oligoclonal, poorly functioning T lymphocytes in a patient with autosomal recessive severe combined immunodeficiency caused by defects of the Jak3 tyrosine kinase.

Brugnoni D, Notarangelo LD, Sottini A, Airò P, Pennacchio M, Mazzolari E, Signorini S, Candotti F, Villa A, Mella P, Vezzoni P, Cattaneo R, Ugazio AG, Imberti L. Brugnoni D, et al. Among authors: ugazio ag. Blood. 1998 Feb 1;91(3):949-55. Blood. 1998. PMID: 9446656 Free article.

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