PANGRAZIO, ALESSANDRA
PANGRAZIO, ALESSANDRA
As little as needed: The extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene
2014 Sobacchi, C; Pangrazio, A; Lopez, Agm; Gomez, Dpv; Caldana, Me; Susani, L; Vezzoni, P; Villa, A
Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis
2014 Pangrazio A.; Puddu A.; Oppo M.; Valentini M.; Zammataro L.; Vellodi A.; Gener B.; LlanoRivas I.; Raza J.; Atta I.; Vezzoni P.; SupertiFurga A.; Villa A.; Sobacchi C.
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.
2013 Mégarbané, A; Pangrazio, A; Villa, A; Chouery, E; Maarawi, J; Sabbagh, S; Lefranc, G; Sobacchi, C
RANKL Cytokine: From Pioneer of the Osteoimmunology Era to Cure for a Rare Disease.
2013 Lo Iacono, N; Pangrazio, A; Abinun, M; Bredius, R; Zecca, M; Blair, Hc; Vezzoni, P; Villa, A; Sobacchi, C
SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity
2013 Pangrazio A.; Fasth A.; Sbardellati A.; Orchard P.J.; Kasow K.A.; Raza J.; Albayrak C.; Albayrak D.; Vanakker O.M.; De Moerloose B.; Vellodi A.; Notarangelo L.D.; Schlack C.; Strauss G.; Kuhl J.S.; Caldana E.; Lo Iacono N.; Susani L.; Kornak U.; Schulz A.; Vezzoni P.; Villa A.; Sobacchi C.
SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity.
2013 Pangrazio A; Fasth A; Sbardellati A; Orchard PJ; Kasow KA; Raza J; Albayrak C; Albayrak D; Vanakker OM; De Moerloose B; Vellodi A; Notarangelo LD; Schlack C; Strauss G; Kühl JS; Caldana E; Lo Iacono N; Susani L; Kornak U; Schulz A; Vezzoni P; Villa A; Sobacchi C.
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.
2013 Stark, Z; Pangrazio, A; Mcgillivray, G; Fink, Am
A recessive contiguous gene deletion in chromosome16p13.3 leads to autosomal recessive osteopetrosis in a Jordanian patient.
2012 Pangrazio, A; Frattini, A; Valli, R; Maserati, E; Susani, L; Villa, A; Vezzoni, P; Alherz, W; Sobacchi, C
Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications
2012 A. Pangrazio;M. E. Caldana;N. L. Iacono;S. Mantero;P. Vezzoni;A. Villa;C. Sobacchi
Homozygous Contiguous Gene Deletion in Chromosome 16p13.3 Leads to Autosomal Recessive Osteopetrosis in a Jordanian Patient.
2012 Pangrazio A; Frattini A; Valli R; Maserati E; Susani L; Vezzoni P; Villa A; AlHerz W; Sobacchi C. A
Osteopetrosis rescue upon RANKL administration to Rankl -/- mice: A new therapy for human RANKL-dependent ARO
2012 Lo Iacono, Nadia; C Blair, Harry; L Poliani, Pietro; Marrella, Veronica; Ficara, Francesca; Cassani, Barbara; Facchetti, Fabio; Fontana, Elena; M Guerrini, Matteo; Traggiai, Elisabetta; Schena, Francesca; Paulis, Marianna; Mantero, Stefano; Inforzato, Antonio; Valaperta, Serenella; Pangrazio, Alessandra; Crisafulli, Laura; Maina, Virginia; Kostenuik, Paul; Vezzoni, Paolo; Villa, Anna; Sobacchi, Cristina
RANK-dependent autosomal recessive osteopetrosis: characterisation of 5 new cases with novel mutations.
2012 Pangrazio A; Cassani B; Guerrini MM; Crockett JC; Marrella V; Zammataro L; Strina D; Schulz A; Schlack C; Kornak U; Mellis DJ; Duthie A; Helfrich MH; Durandy A; Moshous D; Vellodi A; Chiesa R; Veys P; Lo Iacono N; Vezzoni P; Fischer A; Villa A; Sobacchi C.
Identification of the first deletion in the LRP5 gene in a patient with Autosomal Dominant Osteopetrosis type I
2011 Pangrazio, Alessandra; Boudinc, Eveline; Pitersc, Elke; Damanted, Giuseppe; Valentina D'Eliad, Angela; Vezzonia, Paolo; Van Hulc, Wim; Villa, Anna; Sobacchi, Cristina
Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations
2010 Pangrazio A; Pusch M; Caldana E; Frattini A; Lanino E; Tamhankar PM; Phadke S; Lopez AG; Orchard P; Mihci E; Abinun M; Wright M; Vettenranta K; Bariae I; Melis D; Tezcan I; Baumann C; Locatelli F; Zecca M; Horwitz E; Mansour LS; Van Roij M; Vezzoni P; Villa A; Sobacchi C.
Characterization of a novel Alu-Alu recombination-mediated genomic deletion in the TCIRG1 gene in five osteopetrotic patients.
2009 Pangrazio A; Caldana ME; Sobacchi C; Panaroni C; Susani L; Mihci E; Cavaliere ML; Giliani S; Villa A; Frattini A.
Infantile malignant, autosomal recessive osteopetrosis: the rich and the poor.
2009 Villa, Anna; M Guerrini, Matteo; Cassani, Barbara; Pangrazio, Alessandra; Sobacchi, Cristina
Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations.
2008 Guerrini MM; Sobacchi C; Cassani B; Abinun M; Kilic SS; Pangrazio A; Moratto D; Mazzolari E; ClaytonSmith J; Orchard P; Coxon FP; Helfrich MH; Crockett JC; Mellis D; Vellodi A; Tezcan I; Notarangelo LD; Rogers MJ; Vezzoni P; Villa A; Frattini A.
Prognostic potential of precise molecular diagnosis of Autosomal Recessive Osteopetrosis with respect to the outcome of bone marrow transplantation.
2008 Villa A; Pangrazio A; Caldana E; Guerrini M; Vezzoni P; Frattini A; Sobacchi C.
Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis.
2007 Souraty, N; Noun, P; Djambaskhayat, C; Chouery, E; Pangrazio, A; Villa, A; Lefranc, G; Frattini, A; Megarbane, A
Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement.
2006 Pangrazio, A; Poliani, Pl; Megarbane, A; Lefranc, G; Lanino, E; Di Rocco, M; Rucci, F; Lucchini, F; Ravanini, M; Facchetti, F; Abinun, M; Vezzoni, P; Villa, A; Frattini, A
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| As little as needed: The extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene | 1-gen-2014 | Sobacchi, C; Pangrazio, A; Lopez, Agm; Gomez, Dpv; Caldana, Me; Susani, L; Vezzoni, P; Villa, A | |
| Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis | 1-gen-2014 | Pangrazio A.; Puddu A.; Oppo M.; Valentini M.; Zammataro L.; Vellodi A.; Gener B.; LlanoRivas I.; Raza J.; Atta I.; Vezzoni P.; SupertiFurga A.; Villa A.; Sobacchi C. | |
| 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-gen-2013 | Mégarbané, A; Pangrazio, A; Villa, A; Chouery, E; Maarawi, J; Sabbagh, S; Lefranc, G; Sobacchi, C | |
| RANKL Cytokine: From Pioneer of the Osteoimmunology Era to Cure for a Rare Disease. | 1-gen-2013 | Lo Iacono, N; Pangrazio, A; Abinun, M; Bredius, R; Zecca, M; Blair, Hc; Vezzoni, P; Villa, A; Sobacchi, C | |
| SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity | 1-gen-2013 | Pangrazio A.; Fasth A.; Sbardellati A.; Orchard P.J.; Kasow K.A.; Raza J.; Albayrak C.; Albayrak D.; Vanakker O.M.; De Moerloose B.; Vellodi A.; Notarangelo L.D.; Schlack C.; Strauss G.; Kuhl J.S.; Caldana E.; Lo Iacono N.; Susani L.; Kornak U.; Schulz A.; Vezzoni P.; Villa A.; Sobacchi C. | |
| SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity. | 1-gen-2013 | Pangrazio A; Fasth A; Sbardellati A; Orchard PJ; Kasow KA; Raza J; Albayrak C; Albayrak D; Vanakker OM; De Moerloose B; Vellodi A; Notarangelo LD; Schlack C; Strauss G; Kühl JS; Caldana E; Lo Iacono N; Susani L; Kornak U; Schulz A; Vezzoni P; Villa A; Sobacchi C. | |
| 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. | 1-gen-2013 | Stark, Z; Pangrazio, A; Mcgillivray, G; Fink, Am | |
| A recessive contiguous gene deletion in chromosome16p13.3 leads to autosomal recessive osteopetrosis in a Jordanian patient. | 1-gen-2012 | Pangrazio, A; Frattini, A; Valli, R; Maserati, E; Susani, L; Villa, A; Vezzoni, P; Alherz, W; Sobacchi, C | |
| Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications | 1-gen-2012 | A. Pangrazio;M. E. Caldana;N. L. Iacono;S. Mantero;P. Vezzoni;A. Villa;C. Sobacchi | |
| Homozygous Contiguous Gene Deletion in Chromosome 16p13.3 Leads to Autosomal Recessive Osteopetrosis in a Jordanian Patient. | 1-gen-2012 | Pangrazio A; Frattini A; Valli R; Maserati E; Susani L; Vezzoni P; Villa A; AlHerz W; Sobacchi C. A | |
| Osteopetrosis rescue upon RANKL administration to Rankl -/- mice: A new therapy for human RANKL-dependent ARO | 1-gen-2012 | Lo Iacono, Nadia; C Blair, Harry; L Poliani, Pietro; Marrella, Veronica; Ficara, Francesca; Cassani, Barbara; Facchetti, Fabio; Fontana, Elena; M Guerrini, Matteo; Traggiai, Elisabetta; Schena, Francesca; Paulis, Marianna; Mantero, Stefano; Inforzato, Antonio; Valaperta, Serenella; Pangrazio, Alessandra; Crisafulli, Laura; Maina, Virginia; Kostenuik, Paul; Vezzoni, Paolo; Villa, Anna; Sobacchi, Cristina | |
| RANK-dependent autosomal recessive osteopetrosis: characterisation of 5 new cases with novel mutations. | 1-gen-2012 | Pangrazio A; Cassani B; Guerrini MM; Crockett JC; Marrella V; Zammataro L; Strina D; Schulz A; Schlack C; Kornak U; Mellis DJ; Duthie A; Helfrich MH; Durandy A; Moshous D; Vellodi A; Chiesa R; Veys P; Lo Iacono N; Vezzoni P; Fischer A; Villa A; Sobacchi C. | |
| Identification of the first deletion in the LRP5 gene in a patient with Autosomal Dominant Osteopetrosis type I | 1-gen-2011 | Pangrazio, Alessandra; Boudinc, Eveline; Pitersc, Elke; Damanted, Giuseppe; Valentina D'Eliad, Angela; Vezzonia, Paolo; Van Hulc, Wim; Villa, Anna; Sobacchi, Cristina | |
| Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations | 1-gen-2010 | Pangrazio A; Pusch M; Caldana E; Frattini A; Lanino E; Tamhankar PM; Phadke S; Lopez AG; Orchard P; Mihci E; Abinun M; Wright M; Vettenranta K; Bariae I; Melis D; Tezcan I; Baumann C; Locatelli F; Zecca M; Horwitz E; Mansour LS; Van Roij M; Vezzoni P; Villa A; Sobacchi C. | |
| Characterization of a novel Alu-Alu recombination-mediated genomic deletion in the TCIRG1 gene in five osteopetrotic patients. | 1-gen-2009 | Pangrazio A; Caldana ME; Sobacchi C; Panaroni C; Susani L; Mihci E; Cavaliere ML; Giliani S; Villa A; Frattini A. | |
| Infantile malignant, autosomal recessive osteopetrosis: the rich and the poor. | 1-gen-2009 | Villa, Anna; M Guerrini, Matteo; Cassani, Barbara; Pangrazio, Alessandra; Sobacchi, Cristina | |
| Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. | 1-gen-2008 | Guerrini MM; Sobacchi C; Cassani B; Abinun M; Kilic SS; Pangrazio A; Moratto D; Mazzolari E; ClaytonSmith J; Orchard P; Coxon FP; Helfrich MH; Crockett JC; Mellis D; Vellodi A; Tezcan I; Notarangelo LD; Rogers MJ; Vezzoni P; Villa A; Frattini A. | |
| Prognostic potential of precise molecular diagnosis of Autosomal Recessive Osteopetrosis with respect to the outcome of bone marrow transplantation. | 1-gen-2008 | Villa A; Pangrazio A; Caldana E; Guerrini M; Vezzoni P; Frattini A; Sobacchi C. | |
| Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis. | 1-gen-2007 | Souraty, N; Noun, P; Djambaskhayat, C; Chouery, E; Pangrazio, A; Villa, A; Lefranc, G; Frattini, A; Megarbane, A | |
| Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement. | 1-gen-2006 | Pangrazio, A; Poliani, Pl; Megarbane, A; Lefranc, G; Lanino, E; Di Rocco, M; Rucci, F; Lucchini, F; Ravanini, M; Facchetti, F; Abinun, M; Vezzoni, P; Villa, A; Frattini, A |