CNR Institutional Research Information System

VILLA, ANNA
 Distribuzione geografica
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Continente #
AS - Asia 30
EU - Europa 12
NA - Nord America 2
Totale 44
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Nazione #
KR - Corea 18
CN - Cina 10
IT - Italia 9
NL - Olanda 2
SG - Singapore 2
US - Stati Uniti d'America 2
GB - Regno Unito 1
Totale 44
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Città #
Seoul 18
Guangzhou 9
Pisa 5
Lucca 3
Amsterdam 2
Forest City 2
Singapore 2
London 1
Milan 1
Totale 43
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Nome #
Pneumocystis murina lesions in lungs of experimentally infected Cd40l–/– mice 7
Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations 5
The RANKL-RANK axis: A bone to thymus round trip 3
As little as needed: The extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene 3
A recessive contiguous gene deletion in chromosome16p13.3 leads to autosomal recessive osteopetrosis in a Jordanian patient. 2
Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications 2
Therapeutic Potential of Immunoproteasome Inhibition in Duchenne Muscular Dystrophy 2
B lymphocytes limit senescence-driven fibrosis resolution and favor hepatocarcinogenesis in mouse liver injury. 2
Analysis of mutations from SCID and Omenn syndrome patients reveals the central role of the Rag2 PHD domain in regulating V(D)J recombination 2
Hypomorphic mutation in the RAG2 gene affects dendritic cell distribution and migration. 1
A pre-screening FISH-based method to detect CRISPR/Cas9 off-targets in mouse embryonic stem cells 1
2.Mégarbané A, Pangrazio A, Villa A, Chouery E, Maarawi J, Sabbagh S, Lefranc G, Sobacchi C. Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia. 1
Association between a polymorphism affecting an AP1 binding site in the promoter of the TCIRG1 gene and bone mass in women. 1
Expanded circulating hematopoietic stem/progenitor cells as novel cell source for the treatment of TCIRG1 osteopetrosis 1
Rescue of ATPa-3-deficient murine malignant osteopetrosis by hematopoietic stem cell transplantation in Utero 1
In vivo chronic stimulation unveils autoreactive potential of Wiskott-Aldrich syndrome protein-deficient b cells 1
Cutaneous barrier leakage and gut inflammation drive skin disease in Omenn syndrome 1
AIRE deficiency in thymus of 2 patients with Omenn syndrome. 1
Chromosome Transplantation: Correction of the Chronic Granulomatous Disease Defect in Mouse Induced Pluripotent Stem Cells 1
Efficacy of lentivirus-mediated gene therapy in an Omenn syndrome recombination-activating gene 2 mouse model is not hindered by inflammation and immune dysregulation 1
Partial correction of immunodeficiency by lentiviral vector gene therapy in mouse models carrying Rag1 hypomorphic mutations 1
Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis 1
Association between a polymorphism affecting an AP1 binding site in the promoter of the TCIRG1 gene and bone mass in women. 1
Anti-CD3e mAb improves thymic architecture and prevents autoimmune manifestations in a mouse model of Omenn syndrome: therapeutic implications 1
Innovative Cell-Based Therapies and Conditioning to Cure RAG Deficiency 1
RANKL Cytokine: From Pioneer of the Osteoimmunology Era to Cure for a Rare Disease. 1
Defect of regulatory T cells in patients with Omenn syndrome. 1
A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects 1
Mutation of the WASP gene in X-linked Thrombocytopenia 1
Generation of Human Induced Pluripotent Stem Cell-Derived Bona Fide Neural Stem Cells for Ex Vivo Gene Therapy of Metachromatic Leukodystrophy. 1
SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity. 1
Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1 1
Artemis C-terminal region facilitates V(D)J recombination through its interactions with DNA Ligase IV and DNA-PKcs. 1
Totale 52
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Categoria #
all - tutte 1.428
article - articoli 1.410
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 2.838
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/202450 0 0 0 0 0 0 0 0 4 3 33 10
2024/20252 2 0 0 0 0 0 0 0 0 0 0 0
Totale 52