A. Villa

发表

Methylation and sequence analysis around EagI sites: identification of 28 new CpG islands in XQ24-XQ28.

E. Maestrini, C. Tribioli, F. Tamanini, 1992, Nucleic acids research.

Structural and functional basis for JAK3-deficient severe combined immunodeficiency.

A. Villa, J. Johnston, L. Notarangelo, 1997, Blood.

Primary immunodeficiency mutation databases.

M Vihinen, A Etzioni, K. Schwarz, 2001, Advances in genetics.

Immunodeficiency mutation databases

Mauno Vihinen, Dirk Roos, Jouni Väliaho, 1996 .

The genomic organization of the human transcription factor 3 (TFE3) gene.

A. Villa, L. Notarangelo, S. Giliani, 1995, Genomics.

The mutational spectrum of human malignant autosomal recessive osteopetrosis.

A. Villa, M. Vihinen, L. Notarangelo, 2001, Human molecular genetics.

The chromosome localization and the HCF repeats of the human host cell factor gene (HCFC1) are conserved in the mouse homologue.

A. Villa, G. Herman, P. Vezzoni, 1996, Genomics.

Homozygous deletion of RAG1, RAG2 and 5′ region TRAF6 causes severe immune suppression and atypical osteopetrosis

A. Villa, I. Yaniv, S. Avigad, 2017, Clinical genetics.

Retrovirus-mediated IL-4 gene therapy in spontaneous adenocarcinomas from MMTV-neu transgenic mice

A. Villa, G. Finocchiaro, E. Scanziani, 1999, Gene Therapy.

Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications

A. Villa, S. Mantero, P. Vezzoni, 2011, Osteoporosis International.

Preimplantation embryo sexing by polymerase chain reaction amplification of the sry gene on single mouse blastomeres.

A. Villa, P. Vezzoni, L. Mangiarini, 1993, Genetic analysis, techniques and applications.

CD40lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome.

A. Villa, M. Vihinen, S. Giliani, 1996, Immunology today.

Molecular modeling of the Jak3 kinase domains and structural basis for severe combined immunodeficiency.

A. Villa, M. Vihinen, J. O’Shea, 2000, Clinical immunology.

V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.

E. Brooks, K. Schwarz, A. Villa, 2001, Blood.

The exon-intron organization of the human X-linked gene (FLN1) encoding actin-binding protein 280.

E. Maestrini, L. Milanesi, A. Villa, 1994, Genomics.

ZNF75: isolation of a cDNA clone of the KRAB zinc finger gene subfamily mapped in YACs 1 Mb telomeric of HPRT.

C. Patrosso, A. Villa, G. Pilia, 1993, Genomics.

Isolation of a zinc finger motif (ZNF75) mapping on chromosome Xq26.

C. Patrosso, A. Villa, I. Biunno, 1992, Genomics.

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.

A. Villa, S. Santagata, P. Cortés, 2000, Proceedings of the National Academy of Sciences of the United States of America.

The RAG1/RAG2 complex constitutes a 3' flap endonuclease: implications for junctional diversity in V(D)J and transpositional recombination.

A. Villa, M. Nussenzweig, S. Santagata, 1999, Molecular cell.

Prenatal diagnosis of JAK3 deficient SCID

A. Villa, L. Notarangelo, S. Giliani, 1999, Prenatal diagnosis.

Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism

R. F. Schumacher, A. Villa, R. Badolato, 1999, Human Genetics.

Monocyte function in a severe combined immunodeficient patient with a donor splice site mutation in the Jak3 gene.

A. Villa, L. Notarangelo, A. Mantovani, 1996, Blood.

Intrathymic restriction and peripheral expansion of the T-cell repertoire in Omenn syndrome.

A. Villa, F. Facchetti, P. Vezzoni, 1999, Blood.

Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hyper IgM syndrome of various ancestry.

A. Villa, S. Giliani, P. Macchi, 1995, American journal of human genetics.

The ZNF75 zinc finger gene subfamily: isolation and mapping of the four members in humans and great apes.

A. Villa, N. Archidiacono, M. Rocchi, 1996, Genomics.

Early and multifocal tumors in breast, salivary, harderian and epididymal tissues developed in MMTY-Neu transgenic mice.

A. Villa, F. Sessa, P. Vezzoni, 1992, Cancer letters.

Fidelity of a YAC clone in the region of human MCF-2 gene.

A. Villa, P. Vezzoni, A. Frattini, 1991, Biochemical and biophysical research communications.

Mapping of two genes encoding isoforms of the actin binding protein ABP-280, a dystrophin like protein, to Xq28 and to chromosome 7.

E. Maestrini, C. Patrosso, A. Villa, 1993, Human molecular genetics.

Local regression of breast tumors following intramammary ganciclovir administration in double transgenic mice expressing neu oncogene and herpes simplex virus thymidine kinase.

A. Villa, P. Macchi, P. Vezzoni, 1995, Gene therapy.

Type 2 vasopressin receptor gene, the gene responsible nephrogenic diabetes insipidus, maps to Xq28 close to the LICAM gene.

C. Patrosso, A. Villa, P. Vezzoni, 1993, Biochemical and biophysical research communications.

Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis.

C. Patrosso, A. Villa, L. Notarangelo, 1994, Proceedings of the National Academy of Sciences of the United States of America.

Association Between a Polymorphism Affecting an AP1 Binding Site in the Promoter of the TCIRG1 Gene and Bone Mass in Women

A. Villa, D. Reid, A. Musio, 2003, Calcified Tissue International.

Human CD40L gene maps between DXS144E and DXS300 in Xq26.

D. Schlessinger, A. Villa, S. Malcolm, 1994, Genomics.

C to T mutation causing premature termination of CD40 ligand at amino acid 221 in a patient affected by Hyper IgM syndrome

A. Villa, S. Giliani, P. Macchi, 1994, Human mutation.

In vitro and in vivo antisense-mediated growth inhibition of a mammary adenocarcinoma from MMTV-neu transgenic mice

A. Villa, M. Zoppè, P. Vezzoni, 1998, Gene Therapy.

Severe combined immune deficiencies due to defects of the common gamma chain-JAK3 signaling pathway.

A. Villa, J. O’Shea, F. Candotti, 1998, Springer Seminars in Immunopathology.

Genomic organization of the human VP16 accessory protein, a housekeeping gene (HCFC1) mapping to Xq28.

A. Villa, P. Vezzoni, I. Zucchi, 1994, Genomics.