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

1,795 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Recombination-activating gene 1 (Rag1)-deficient mice with severe combined immunodeficiency treated with lentiviral gene therapy demonstrate autoimmune Omenn-like syndrome.
van Til NP, Sarwari R, Visser TP, Hauer J, Lagresle-Peyrou C, van der Velden G, Malshetty V, Cortes P, Jollet A, Danos O, Cassani B, Zhang F, Thrasher AJ, Fontana E, Poliani PL, Cavazzana M, Verstegen MM, Villa A, Wagemaker G. van Til NP, et al. Among authors: villa a. J Allergy Clin Immunol. 2014 Apr;133(4):1116-23. doi: 10.1016/j.jaci.2013.10.009. Epub 2013 Dec 9. J Allergy Clin Immunol. 2014. PMID: 24332219
Molecular and biochemical characterization of JAK3 deficiency in a patient with severe combined immunodeficiency over 20 years after bone marrow transplantation: implications for treatment.
Bozzi F, Lefranc G, Villa A, Badolato R, Schumacher RF, Khalil G, Loiselet J, Bresciani S, O'Shea JJ, Vezzoni P, Notarangelo LD, Candotti F. Bozzi F, et al. Among authors: villa a. Br J Haematol. 1998 Sep;102(5):1363-6. doi: 10.1111/j.1365-2141.1998.tb08990.x. Br J Haematol. 1998. PMID: 9753072 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. J Clin Immunol. 1999 Mar;19(2):87-97. doi: 10.1023/a:1020550432126. J Clin Immunol. 1999. PMID: 10226883 Review.
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: villa a. 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.
The genetic and biochemical basis of Omenn syndrome.
Santagata S, Villa A, Sobacchi C, Cortes P, Vezzoni P. Santagata S, et al. Among authors: villa a. Immunol Rev. 2000 Dec;178:64-74. doi: 10.1034/j.1600-065x.2000.17818.x. Immunol Rev. 2000. PMID: 11213808 Review.
Recombination activating gene and its defects.
Villa A, Sobacchi C, Vezzoni P. Villa A, et al. Curr Opin Allergy Clin Immunol. 2001 Dec;1(6):491-5. doi: 10.1097/00130832-200112000-00001. Curr Opin Allergy Clin Immunol. 2001. PMID: 11964731 Review.
A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome.
Marrella V, Poliani PL, Casati A, Rucci F, Frascoli L, Gougeon ML, Lemercier B, Bosticardo M, Ravanini M, Battaglia M, Roncarolo MG, Cavazzana-Calvo M, Facchetti F, Notarangelo LD, Vezzoni P, Grassi F, Villa A. Marrella V, et al. Among authors: villa a. J Clin Invest. 2007 May;117(5):1260-9. doi: 10.1172/JCI30928. J Clin Invest. 2007. PMID: 17476358 Free PMC article.
1,795 results