Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

67 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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. Among authors: bozzi f. Cell. 1998 May 29;93(5):885-96. doi: 10.1016/s0092-8674(00)81448-8. Cell. 1998. PMID: 9630231 Free article.
Omenn syndrome: a disorder of Rag1 and Rag2 genes.
Villa A, Santagata S, Bozzi F, Imberti L, Notarangelo LD. Villa A, et al. Among authors: bozzi f. J Clin Immunol. 1999 Mar;19(2):87-97. doi: 10.1023/a:1020550432126. J Clin Immunol. 1999. PMID: 10226883 Review.
Prenatal diagnosis of RAG-deficient Omenn syndrome.
Villa A, Bozzi F, Sobacchi C, Strina D, Fasth A, Pasic S, Notarangelo LD, Vezzoni P. Villa A, et al. Among authors: bozzi f. Prenat Diagn. 2000 Jan;20(1):56-9. Prenat Diagn. 2000. PMID: 10701853
V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.
Villa A, Sobacchi C, Notarangelo LD, Bozzi F, Abinun M, Abrahamsen TG, Arkwright PD, Baniyash M, Brooks EG, Conley ME, Cortes P, Duse M, Fasth A, Filipovich AM, Infante AJ, Jones A, Mazzolari E, Muller SM, Pasic S, Rechavi G, Sacco MG, Santagata S, Schroeder ML, Seger R, Strina D, Ugazio A, Väliaho J, Vihinen M, Vogler LB, Ochs H, Vezzoni P, Friedrich W, Schwarz K. Villa A, et al. Among authors: bozzi f. Blood. 2001 Jan 1;97(1):81-8. doi: 10.1182/blood.v97.1.81. Blood. 2001. PMID: 11133745 Free article.
N-terminal RAG1 frameshift mutations in Omenn's syndrome: internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains.
Santagata S, Gomez CA, Sobacchi C, Bozzi F, Abinun M, Pasic S, Cortes P, Vezzoni P, Villa A. Santagata S, et al. Among authors: bozzi f. Proc Natl Acad Sci U S A. 2000 Dec 19;97(26):14572-7. doi: 10.1073/pnas.97.26.14572. Proc Natl Acad Sci U S A. 2000. PMID: 11121059 Free PMC article.
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: bozzi f. Blood. 1997 Nov 15;90(10):3996-4003. Blood. 1997. PMID: 9354668 Free article.
The exon-intron structure of human LHX1 gene.
Bozzi F, Bertuzzi S, Strina D, Giannetto C, Vezzoni P, Villa A. Bozzi F, et al. Biochem Biophys Res Commun. 1996 Dec 13;229(2):494-7. doi: 10.1006/bbrc.1996.1832. Biochem Biophys Res Commun. 1996. PMID: 8954926
Mutations in conserved regions of the predicted RAG2 kelch repeats block initiation of V(D)J recombination and result in primary immunodeficiencies.
Gomez CA, Ptaszek LM, Villa A, Bozzi F, Sobacchi C, Brooks EG, Notarangelo LD, Spanopoulou E, Pan ZQ, Vezzoni P, Cortes P, Santagata S. Gomez CA, et al. Among authors: bozzi f. Mol Cell Biol. 2000 Aug;20(15):5653-64. doi: 10.1128/MCB.20.15.5653-5664.2000. Mol Cell Biol. 2000. PMID: 10891502 Free PMC article.
67 results