http://www.cnr.it/ontology/cnr/individuo/unitaDiPersonaleInterno/MATRICOLA372
ANNALISA FRATTINI
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- Label
- ANNALISA FRATTINI (literal)
- ANNALISA FRATTINI (literal)
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- Autore CNR di
- 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)
- Characterization of a novel Alu-Alu recombination-mediated genomic deletion in the TCIRG1 gene in five osteopetrotic patients. (Articolo in rivista) (Prodotto della ricerca)
- TYPE-2 VASOPRESSIN RECEPTOR GENE, THE GENE RESPONSIBLE FOR NEPHROGENIC DIABETES-INSIPIDUS, MAPS TO XQ28 CLOSE TO THE L1CAM GENE (Articolo in rivista) (Prodotto della ricerca)
- Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Brain lipid composition in grey-lethal mutant mouse characterized by severe malignant osteopetrosis. (Articolo in rivista) (Prodotto della ricerca)
- GENOMIC ORGANIZATION OF THE HUMAN VP16 ACCESSORY PROTEIN, A HOUSEKEEPING GENE (HCFC1) MAPPING TO XQ28 (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Identification of a new member (ZNF183) of the Ring finger gene family in Xq24-25 (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Heterogeneous gene distribution reflects human genome complexity as detected at the cytogenetic level (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Characterization and fine localization of two new genes in Xq28 using the genomic sequence EST database screening approach (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)
- A new familial sclerosing bone dysplasia. (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)
- A nonsynonymous TNFRSF11A variation increases NFkB activity and the severity of Paget's disease (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)
- 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)
- Severe Malignant Osteopetrosis Caused by a GL Gene Mutation. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Rescue of ATPa3-deficient Murine Malignant Osteopetrosis by Hematopoietic Stem Cell Transplantation In Utero. (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)
- The mammary gland and the homeobox gene Otx1. (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)
- 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)
- The Mammary Gland and the Homeobox Gene Otx1 (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)
- Expansion cranioplasty with jackscrew distracters for craniosynostosis and intracranial hypertension in transplanted osteopetrosis. (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)
- Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL. (Articolo in rivista) (Prodotto della ricerca)
- Electron microscopic findings in skin biopsies from patients with infantile osteopetrosis and neuronal storage disease. (Articolo in rivista) (Prodotto della ricerca)
- Diagnosi molecolare di malattie genetiche (Risultati di valorizzazione applicativa) (Prodotto della ricerca)
- Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Vacuolar H+-ATPase d2 Subunit: Molecular Characterization, Developmental Regulation, and Localization to Specialized Proton Pumps in Kidney and Bone. (Articolo in rivista) (Prodotto della ricerca)
- A non-synonymous TNFRSF11A variation increases NFkB activity and the severity of Paget's disease. (Articolo in rivista) (Prodotto della ricerca)
- A non-synonymous TNFRSF11A variation increases NFkB activity and the severity of Paget's disease (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)
- Chloride channel CICN7 mutations in a Korean patient with infantile malignant osteopetrosis initially presenting with neonatal thrombocytopenia. (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)
- Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement. (Articolo in rivista) (Prodotto della ricerca)
- Van Wesenbeeck L, Odgren PR, Coxon FP, Frattini A, Moens P, Perdu B, MacKay CA, Van Hul E, Timmermans JP, Vanhoenacker F, Jacobs R, Peruzzi B, Teti A, Helfrich MH, Rogers MJ, Villa A, Van Hul W. (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)
- OTX1 expression in breast cancer is regulated by p53 (Articolo in rivista) (Prodotto della ricerca)
- 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)
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- Http://www.cnr.it/ontology/persone.owl#argomentoDiRicercaSimile
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- Http://www.cnr.it/ontology/persone.owl#argomentoDiRicercaSimile
- Coautore
- Ha pubblicazioni con
- Partecipazione di
- Autore CNR
- Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A nonsynonymous TNFRSF11A variation increases NFkB activity and the severity of Paget's disease (Articolo in rivista) (Prodotto della ricerca)
- 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)
- Expansion cranioplasty with jackscrew distracters for craniosynostosis and intracranial hypertension in transplanted osteopetrosis. (Articolo in rivista) (Prodotto della ricerca)
- The Mammary Gland and the Homeobox Gene Otx1 (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Vacuolar H+-ATPase d2 Subunit: Molecular Characterization, Developmental Regulation, and Localization to Specialized Proton Pumps in Kidney and Bone. (Articolo in rivista) (Prodotto della ricerca)
- Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human. (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)
- Electron microscopic findings in skin biopsies from patients with infantile osteopetrosis and neuronal storage disease. (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)
- Rescue of ATPa3-deficient Murine Malignant Osteopetrosis by Hematopoietic Stem Cell Transplantation In Utero. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Severe Malignant Osteopetrosis Caused by a GL Gene Mutation. (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)
- A new familial sclerosing bone dysplasia. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- 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)
- Chloride channel CICN7 mutations in a Korean patient with infantile malignant osteopetrosis initially presenting with neonatal thrombocytopenia. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Heterogeneous gene distribution reflects human genome complexity as detected at the cytogenetic level (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)
- Characterization of a novel Alu-Alu recombination-mediated genomic deletion in the TCIRG1 gene in five osteopetrotic patients. (Articolo in rivista) (Prodotto della ricerca)
- Van Wesenbeeck L, Odgren PR, Coxon FP, Frattini A, Moens P, Perdu B, MacKay CA, Van Hul E, Timmermans JP, Vanhoenacker F, Jacobs R, Peruzzi B, Teti A, Helfrich MH, Rogers MJ, Villa A, Van Hul W. (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)
- 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)
- Brain lipid composition in grey-lethal mutant mouse characterized by severe malignant osteopetrosis. (Articolo in rivista) (Prodotto della ricerca)
- 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)
- The mammary gland and the homeobox gene Otx1. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- TYPE-2 VASOPRESSIN RECEPTOR GENE, THE GENE RESPONSIBLE FOR NEPHROGENIC DIABETES-INSIPIDUS, MAPS TO XQ28 CLOSE TO THE L1CAM GENE (Articolo in rivista) (Prodotto della ricerca)
- Mutations of JAK3 gene in patients with autosomal severe combined immunodeficiency (SCID). (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)
- Partial V(D)J recombination activity leads to Omenn syndrome. (Articolo in rivista) (Prodotto della ricerca)
- GENOMIC ORGANIZATION OF THE HUMAN VP16 ACCESSORY PROTEIN, A HOUSEKEEPING GENE (HCFC1) MAPPING TO XQ28 (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)
- Characterization and fine localization of two new genes in Xq28 using the genomic sequence EST database screening approach (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Identification of a new member (ZNF183) of the Ring finger gene family in Xq24-25 (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- A non-synonymous TNFRSF11A variation increases NFkB activity and the severity of Paget's disease. (Articolo in rivista) (Prodotto della ricerca)
- OTX1 expression in breast cancer is regulated by p53 (Articolo in rivista) (Prodotto della ricerca)
- A non-synonymous TNFRSF11A variation increases NFkB activity and the severity of Paget's disease (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
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