http://www.cnr.it/ontology/cnr/individuo/unitaDiPersonaleEsterno/ID3098
Alessandra Pangrazio
- Type
- Label
- Alessandra Pangrazio (literal)
- Alessandra Pangrazio (literal)
- Subject
- Partecipa a commessa
- Persona in rapporto
- Autore CNR di
- SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity. (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)
- Osteopetrosis rescue upon RANKL administration to Rankl -/- mice: A new therapy for human RANKL-dependent ARO (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) (Prodotto della ricerca)
- Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications (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) (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)
- 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)
- 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)
- 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)
- 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)
- Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis. (Articolo in rivista) (Prodotto della ricerca)
- 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. (Articolo in rivista) (Prodotto della ricerca)
- Stark Z, Pangrazio A, McGillivray G, Fink AM. Association of severe autosomal recessive osteopetrosis and structural brain abnormalities: A case report and review of the literature. (Articolo in rivista) (Prodotto della ricerca)
- Coautore
- Nome
- Cognome
- Afferisce a
- Ha pubblicazioni con
Incoming links:
- Coautore
- Ha pubblicazioni con
- Autore CNR
- Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis. (Articolo in rivista) (Prodotto della ricerca)
- 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)
- 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)
- Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications (Articolo in rivista) (Prodotto della ricerca)
- Osteopetrosis rescue upon RANKL administration to Rankl -/- mice: A new therapy for human RANKL-dependent ARO (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) (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)
- Identification of the first deletion in the LRP5 gene in a patient with Autosomal Dominant Osteopetrosis type I (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)
- 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)
- 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)
- SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity. (Articolo in rivista) (Prodotto della ricerca)
- 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. (Articolo in rivista) (Prodotto della ricerca)
- Stark Z, Pangrazio A, McGillivray G, Fink AM. Association of severe autosomal recessive osteopetrosis and structural brain abnormalities: A case report and review of the literature. (Articolo in rivista) (Prodotto della ricerca)
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