http://www.cnr.it/ontology/cnr/individuo/unitaDiPersonaleInterno/MATRICOLA22124
PAOLO MARIA VEZZONI
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- PAOLO MARIA VEZZONI (literal)
- PAOLO MARIA VEZZONI (literal)
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- Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Reduced mammary tumor progression in a transgenic mouse model fed an isoflavone-poor soy protein concentrate. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Cell fusion is a physiological process in Mouse liver. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Effects of IL-12 gene therapy on spontaneous transgenic and transplanted breast tumors. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Autofluorescence properties of murine embryonic stem cells during spontaneous differentiation phases. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Osteopetrosis rescue upon RANKL administration to Rankl -/- mice: A new therapy for human RANKL-dependent ARO (Articolo in rivista) (Prodotto della ricerca)
- Homozygous Contiguous Gene Deletion in Chromosome 16p13.3 Leads to Autosomal Recessive Osteopetrosis in a Jordanian Patient. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Artemis C-terminal region facilitates V(D)J recombination through its interactions with DNA Ligase IV and DNA-PKcs. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Si può clonare un essere umano (Monografia o trattato scientifico) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1401)
- Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The Dissection of Human Autosomal Recessive Osteopetrosis Identifies an Osteoclast-Poor Form due to RANKL Deficiency. (Articolo in rivista) (Prodotto della ricerca)
- Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL. (Articolo in rivista) (Prodotto della ricerca)
- Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Identification of the first deletion in the LRP5 gene in a patient with Autosomal Dominant Osteopetrosis type I (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Gene expression profiles of epithelial cells microscopically isolated from a breast-invasive ductal carcinoma and a nodal metastasis (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Association between a polymorphism affecting an AP1 binding site in the promoter of the TCIRG1 gene and bone mass in women. (Articolo in rivista) (Prodotto della ricerca)
- Inhibition of BUB1 results in genomic instability and anchorage-independent growth of normal human fibroblasts. (Articolo in rivista) (Prodotto della ricerca)
- SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Methylation and sequence analysis around EagI sites: identification of 28 new CpG islands in XQ24-XQ28. (Articolo in rivista) (Prodotto della ricerca)
- Autofluorescence and metabolic signatures in a pig model of differentiation based on induced pluripotent cells and embryonic bodies (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. (Articolo in rivista) (Prodotto della ricerca)
- The genetics of dominant osteopetrosis (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Defects in the TCIRG1-encoded 116kD subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Prognostic potential of precise molecular diagnosis of Autosomal Recessive Osteopetrosis with respect to the outcome of bone marrow transplantation. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Association between a polymorphism affecting an AP1 binding site in the promoter of the TCIRG1 gene and bone mass in women. (Articolo in rivista) (Prodotto della ricerca)
- Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement. (Articolo in rivista) (Prodotto della ricerca)
- SMC1 involvement in fragile site expression (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A transgenic mouse model for the detection of cellular stress induced by toxic inorganic compounds. (Articolo in rivista) (Prodotto della ricerca)
- Inhibition of BUB1 results in genomic instability and anchorage-independent growth of normal human fibroblasts. (Articolo in rivista) (Prodotto della ricerca)
- Mutations of JAK3 gene in patients with autosomal severe combined immunodeficiency (SCID). (Articolo in rivista) (Prodotto della ricerca)
- X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations (Articolo in rivista) (Prodotto della ricerca)
- Physiologic oxygen enhances human embryonic stem cell clonal recovery and reduces chromosomal abnormalities. (Articolo in rivista) (Prodotto della ricerca)
- SMC1 inhibition results in FRA3B expression but has no effect on its delayed replication (Articolo in rivista) (Prodotto della ricerca)
- RANK-dependent autosomal recessive osteopetrosis: characterisation of 5 new cases with novel mutations. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Anti-CD3e mAb improves thymic architecture and prevents autoimmune manifestations in a mouse model of Omenn syndrome: therapeutic implications (Articolo in rivista) (Prodotto della ricerca)
- X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Hypomorphic mutation in the RAG2 gene affects dendritic cell distribution and migration. (Articolo in rivista) (Prodotto della ricerca)
- Partial V(D)J recombination activity leads to Omenn syndrome. (Articolo in rivista) (Prodotto della ricerca)
- Osteopetroses and immunodeficiencies in humans. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- In utero transplantation of adult bone marrow decreases perinatal lethality and rescues the bone phenotype in the knockin murine model for classical, dominant osteogenesis imperfecta. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Impaired Osteoblastogenesis in a Murine Model of Dominant Osteogenesis Imperfecta (OI), A New Target for OI Pharmacological Therapy. Stem Cells 30:1465-1476, 2012 (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Association of rat8 with Fyn protein kinase via lipid rafts is required for rat mammary cell differentiation in vitro (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Genotype-Phenotype Relationship in Human ATP6i-Dependent Autosomal Recessive Osteopetrosis. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- TCIRG1-dependent recessive osteopetrosis: Mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Response to Gribaldo and Hartung: New hepatocytes for toxicolgoy? (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Polymorphisms of the CLCN7 Gene Are Associated With BMD in Women. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Combined antiestrogen, antiangiogenic and anti-invasion therapy inhibits primary and metastatic tumor growth in the MMTVneu model of breast cancer. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- As little as needed: The extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene (Articolo in rivista) (Prodotto della ricerca)
- PROPRIETA' DI AUTOFLUORESCENZA DI CELLULE STAMINALI MURINE IN FASI PRECOCI DI DIFFERENZIAMENTO (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- Analysis of mutations from SCID and Omenn syndrome patients reveals the central role of the Rag2 PHD domain in regulating V(D)J recombination (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Diagnosi molecolare di malattie genetiche (Risultati di valorizzazione applicativa) (Prodotto della ricerca)
- Anti-VEGF agents confer survival advantages to tumor-bearing mice by improving cancer-associated systemic syndrome (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Iron, neuromelanin and ferritin content in the substantia nigra of normal subjects at different ages: consequences for iron storage and neurodegenerative processes. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Homeostatic expansion of autoreactive immunoglobulin-secreting cells in the Rag2 mouse model of Omenn syndrome. (Articolo in rivista) (Prodotto della ricerca)
- Damaging-agent sensitivity of Artemis-deficient cell lines. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Osteoclast morphology in autosomal recessive malignant osteopetrosis due to a TCIRG1 gene mutation. (Articolo in rivista) (Prodotto della ricerca)
- Dome formation in cell cultures as expression of an early stage of lactogenic differentiation of the mammary gland. (Articolo in rivista) (Prodotto della ricerca)
- Recapitulation of the Roberts syndrome cellular phenotype by inhibition of INCENP, ZWINT-1 and ZW10 genes (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- RANKL Cytokine: From Pioneer of the Osteoimmunology Era to Cure for a Rare Disease. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Cellule di mammifero non umano geneticamente modificate, procedimento per la loro produzione e utilizzo in test di tossicità (Brevetto) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1601)
- Genetic markers for bone mass (Brevetto) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1601)
- Single-Cell Analysis of Ploidy and Centrosomes Underscores the Peculiarity of Normal Hepatocytes (Articolo in rivista) (Prodotto della ricerca)
- Effects of IL-12 gene therapy on spontaneous transgenic and transplanted breast tumors. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- CHARACTERIZATION OF 9 NOVEL MUTATIONS IN THE CD40 LIGAND GENE IN PATIENTS WITH X-LINKED HYPER IGM SYNDROME OF VARIOUS ANCESTRY (Articolo in rivista) (Prodotto della ricerca)
- Checkpoint adaptation leads to genome instability in human cells (Contributo in atti di convegno) (Prodotto della ricerca)
- Defect of regulatory T cells in patients with Omenn syndrome. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Coautore
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- Http://www.cnr.it/ontology/persone.owl#argomentoDiRicercaSimile
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- Coautore
- Ha pubblicazioni con
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- Http://www.cnr.it/ontology/persone.owl#argomentoDiRicercaSimile
- Gestore
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- Autore CNR
- Combined antiestrogen, antiangiogenic and anti-invasion therapy inhibits primary and metastatic tumor growth in the MMTVneu model of breast cancer. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Polymorphisms of the CLCN7 Gene Are Associated With BMD in Women. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- TCIRG1-dependent recessive osteopetrosis: Mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Response to Gribaldo and Hartung: New hepatocytes for toxicolgoy? (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Association of rat8 with Fyn protein kinase via lipid rafts is required for rat mammary cell differentiation in vitro (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Genotype-Phenotype Relationship in Human ATP6i-Dependent Autosomal Recessive Osteopetrosis. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- SMC1 inhibition results in FRA3B expression but has no effect on its delayed replication (Articolo in rivista) (Prodotto della ricerca)
- X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations (Articolo in rivista) (Prodotto della ricerca)
- Physiologic oxygen enhances human embryonic stem cell clonal recovery and reduces chromosomal abnormalities. (Articolo in rivista) (Prodotto della ricerca)
- Inhibition of BUB1 results in genomic instability and anchorage-independent growth of normal human fibroblasts. (Articolo in rivista) (Prodotto della ricerca)
- Association between a polymorphism affecting an AP1 binding site in the promoter of the TCIRG1 gene and bone mass in women. (Articolo in rivista) (Prodotto della ricerca)
- Gene expression profiles of epithelial cells microscopically isolated from a breast-invasive ductal carcinoma and a nodal metastasis (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL. (Articolo in rivista) (Prodotto della ricerca)
- The Dissection of Human Autosomal Recessive Osteopetrosis Identifies an Osteoclast-Poor Form due to RANKL Deficiency. (Articolo in rivista) (Prodotto della ricerca)
- Effects of IL-12 gene therapy on spontaneous transgenic and transplanted breast tumors. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Reduced mammary tumor progression in a transgenic mouse model fed an isoflavone-poor soy protein concentrate. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Cell fusion is a physiological process in Mouse liver. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Defect of regulatory T cells in patients with Omenn syndrome. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Recapitulation of the Roberts syndrome cellular phenotype by inhibition of INCENP, ZWINT-1 and ZW10 genes (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Dome formation in cell cultures as expression of an early stage of lactogenic differentiation of the mammary gland. (Articolo in rivista) (Prodotto della ricerca)
- Osteoclast morphology in autosomal recessive malignant osteopetrosis due to a TCIRG1 gene mutation. (Articolo in rivista) (Prodotto della ricerca)
- Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Damaging-agent sensitivity of Artemis-deficient cell lines. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Effects of IL-12 gene therapy on spontaneous transgenic and transplanted breast tumors. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Iron, neuromelanin and ferritin content in the substantia nigra of normal subjects at different ages: consequences for iron storage and neurodegenerative processes. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Anti-VEGF agents confer survival advantages to tumor-bearing mice by improving cancer-associated systemic syndrome (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Analysis of mutations from SCID and Omenn syndrome patients reveals the central role of the Rag2 PHD domain in regulating V(D)J recombination (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Homeostatic expansion of autoreactive immunoglobulin-secreting cells in the Rag2 mouse model of Omenn syndrome. (Articolo in rivista) (Prodotto della ricerca)
- Checkpoint adaptation leads to genome instability in human cells (Contributo in atti di convegno) (Prodotto della ricerca)
- Si può clonare un essere umano (Monografia o trattato scientifico) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1401)
- Genetic markers for bone mass (Brevetto) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1601)
- Cellule di mammifero non umano geneticamente modificate, procedimento per la loro produzione e utilizzo in test di tossicità (Brevetto) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1601)
- Diagnosi molecolare di malattie genetiche (Risultati di valorizzazione applicativa) (Prodotto della ricerca)
- In utero transplantation of adult bone marrow decreases perinatal lethality and rescues the bone phenotype in the knockin murine model for classical, dominant osteogenesis imperfecta. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Osteopetroses and immunodeficiencies in humans. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Artemis C-terminal region facilitates V(D)J recombination through its interactions with DNA Ligase IV and DNA-PKcs. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Homozygous Contiguous Gene Deletion in Chromosome 16p13.3 Leads to Autosomal Recessive Osteopetrosis in a Jordanian Patient. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Single-Cell Analysis of Ploidy and Centrosomes Underscores the Peculiarity of Normal Hepatocytes (Articolo in rivista) (Prodotto della ricerca)
- Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Osteopetrosis rescue upon RANKL administration to Rankl -/- mice: A new therapy for human RANKL-dependent ARO (Articolo in rivista) (Prodotto della ricerca)
- Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. (Articolo in rivista) (Prodotto della ricerca)
- Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement. (Articolo in rivista) (Prodotto della ricerca)
- Association between a polymorphism affecting an AP1 binding site in the promoter of the TCIRG1 gene and bone mass in women. (Articolo in rivista) (Prodotto della ricerca)
- Impaired Osteoblastogenesis in a Murine Model of Dominant Osteogenesis Imperfecta (OI), A New Target for OI Pharmacological Therapy. Stem Cells 30:1465-1476, 2012 (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Identification of the first deletion in the LRP5 gene in a patient with Autosomal Dominant Osteopetrosis type I (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- SMC1 involvement in fragile site expression (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Prognostic potential of precise molecular diagnosis of Autosomal Recessive Osteopetrosis with respect to the outcome of bone marrow transplantation. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Anti-CD3e mAb improves thymic architecture and prevents autoimmune manifestations in a mouse model of Omenn syndrome: therapeutic implications (Articolo in rivista) (Prodotto della ricerca)
- RANK-dependent autosomal recessive osteopetrosis: characterisation of 5 new cases with novel mutations. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- PROPRIETA' DI AUTOFLUORESCENZA DI CELLULE STAMINALI MURINE IN FASI PRECOCI DI DIFFERENZIAMENTO (Comunicazione a convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1303)
- Methylation and sequence analysis around EagI sites: identification of 28 new CpG islands in XQ24-XQ28. (Articolo in rivista) (Prodotto della ricerca)
- RANKL Cytokine: From Pioneer of the Osteoimmunology Era to Cure for a Rare Disease. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Autofluorescence properties of murine embryonic stem cells during spontaneous differentiation phases. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Mutations of JAK3 gene in patients with autosomal severe combined immunodeficiency (SCID). (Articolo in rivista) (Prodotto della ricerca)
- A transgenic mouse model for the detection of cellular stress induced by toxic inorganic compounds. (Articolo in rivista) (Prodotto della ricerca)
- Inhibition of BUB1 results in genomic instability and anchorage-independent growth of normal human fibroblasts. (Articolo in rivista) (Prodotto della ricerca)
- Defects in the TCIRG1-encoded 116kD subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Partial V(D)J recombination activity leads to Omenn syndrome. (Articolo in rivista) (Prodotto della ricerca)
- Hypomorphic mutation in the RAG2 gene affects dendritic cell distribution and migration. (Articolo in rivista) (Prodotto della ricerca)
- CHARACTERIZATION OF 9 NOVEL MUTATIONS IN THE CD40 LIGAND GENE IN PATIENTS WITH X-LINKED HYPER IGM SYNDROME OF VARIOUS ANCESTRY (Articolo in rivista) (Prodotto della ricerca)
- Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- The genetics of dominant osteopetrosis (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- As little as needed: The extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene (Articolo in rivista) (Prodotto della ricerca)
- Autofluorescence and metabolic signatures in a pig model of differentiation based on induced pluripotent cells and embryonic bodies (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Http://www.w3.org/2004/02/skos/core#isSubjectOf
