Search Results - "PANGRAZIO, A"

Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications by Pangrazio, A., Caldana, M. E., Iacono, N. L., Mantero, S., Vezzoni, P., Villa, A., Sobacchi, C.

“…Summary Here we report 41 novel mutations in the TCIRG1 gene that is responsible for the disease in more than 50% of ARO patients. The characterisation of…”
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Mutations in OSTM1 (Grey Lethal) Define a Particularly Severe Form of Autosomal Recessive Osteopetrosis With Neural Involvement by Pangrazio, Alessandra, Poliani, Pietro Luigi, Megarbane, André, Lefranc, Gérard, Lanino, Edoardo, Di Rocco, Maja, Rucci, Francesca, Lucchini, Franco, Ravanini, Maria, Facchetti, Fabio, Abinun, Mario, Vezzoni, Paolo, Villa, Anna, Frattini, Annalisa

“…We report three novel osteopetrosis patients with OSTM1 mutations and review two that have been previously described. Our analysis suggests that OSTM1 defines…”
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Erratum to: Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications by Pangrazio, A., Caldana, M. E., Lo Iacono, N., Mantero, S., Vezzoni, P., Villa, A., Sobacchi, C.

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TCIRG1-dependent autosomal recessive osteopetrosis: Analysis of 100 cases and detection of a recurrent genomic deletion by Pangrazio, A, Caldana, E.M, Sobacchi, C, Panaroni, C, Susani, L, Frattini, A, Villa, A

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Prognostic potential of precise molecular diagnosis of Autosomal Recessive Osteopetrosis by Sobacchi, C, Guerrini, M, Cassani, B, Pangrazio, A, Frattini, A, Vezzoni, P, Villa, A

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Human osteopetrosis: Molecular and clinical characterization of the intermediate form by Lo Iacono, N, Sobacchi, C, Pangrazio, A, Caldana, E, Frattini, A, Vezzoni, P, Villa, A

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A new familial sclerosing bone dysplasia by Chouery, Eliane, Pangrazio, Alessandra, Frattini, Annalisa, Villa, Anna, Van Wesenbeeck, Liesbeth, Piters, Elke, Van Hul, Wim, Coxon, Fraser P, Schouten, Tabitha, Helfrich, Miep, Lefranc, Gérard, Mégarbané, André

“…Osteoscleroses are a heterogeneous group of bone remodeling disorders characterized by an increase in bone density. Here we report on a consanguineous Lebanese…”
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Prognostic potential of precise molecular diagnosis of autosomal recessive osteopetrosis by Sobacchi, C, Guerrini, M.M, Cassani, B, Pangrazio, A, Frattini, A, Vezzoni, P, Villa, A

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Patterns of male-specific inter-population divergence in Europe, West Asia and North Africa by MALASPINA, P., CRUCIANI, F., SANTOLAMAZZA, P., TORRONI, A., PANGRAZIO, A., AKAR, N., BAKALLI, V., BRDICKA, R., JARUZELSKA, J., KOZLOV, A., MALYARCHUK, B., MEHDI, S. Q., MICHALODIMITRAKIS, E., VARESI, L., MEMMI, M. M., VONA, G., VILLEMS, R., PARIK, J., ROMANO, V., STEFAN, M., STENICO, M., TERRENATO, L., NOVELLETTO, A., SCOZZARI, R.

“…We typed 1801 males from 55 locations for the Y-specific binary markers YAP, DYZ3, SRY10831 and the (CA)n microsatellites YCAII and DYS413. Phylogenetic…”
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SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity by Pangrazio, Alessandra, Fasth, Anders, Sbardellati, Andrea, Orchard, Paul J, Kasow, Kimberly A, Raza, Jamal, Albayrak, Canan, Albayrak, Davut, Vanakker, Olivier M, De Moerloose, Barbara, Vellodi, Ashok, Notarangelo, Luigi D, Schlack, Claire, Strauss, Gabriele, Kühl, Jörn‐Sven, Caldana, Elena, Lo Iacono, Nadia, Susani, Lucia, Kornak, Uwe, Schulz, Ansgar, Vezzoni, Paolo, Villa, Anna, Sobacchi, Cristina

“…Human Autosomal Recessive Osteopetrosis (ARO) is a genetically heterogeneous disorder caused by reduced bone resorption by osteoclasts. In 2000, we found that…”
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RANK-dependent autosomal recessive osteopetrosis: Characterization of five new cases with novel mutations by Pangrazio, Alessandra, Cassani, Barbara, Guerrini, Matteo M, Crockett, Julie C, Marrella, Veronica, Zammataro, Luca, Strina, Dario, Schulz, Ansgar, Schlack, Claire, Kornak, Uwe, Mellis, David J, Duthie, Angela, Helfrich, Miep H, Durandy, Anne, Moshous, Despina, Vellodi, Ashok, Chiesa, Robert, Veys, Paul, Lo Iacono, Nadia, Vezzoni, Paolo, Fischer, Alain, Villa, Anna, Sobacchi, Cristina

“…Autosomal recessive osteopetrosis (ARO) is a genetically heterogeneous disorder attributed to reduced bone resorption by osteoclasts. Most human AROs are…”
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Chloride Channel ClCN7 Mutations Are Responsible for Severe Recessive, Dominant, and Intermediate Osteopetrosis by Frattini, Annalisa, Pangrazio, Alessandra, Susani, Lucia, Sobacchi, Cristina, Mirolo, Massimiliano, Abinun, Mario, Andolina, Marino, Flanagan, Adrienne, Horwitz, Edwin M, Mihci, Ercan, Notarangelo, Luigi D, Ramenghi, Ugo, Teti, Anna, Van Hove, Johan, Vujic, Dragana, Young, Terri, Albertini, Alberto, Orchard, Paul J, Vezzoni, Paolo, Villa, Anna

“…Among 94 osteopetrotic patients presenting with a severe clinical picture and diagnosed early in life, 12 bore mutations in the ClCN7 gene, but only 7 of them…”
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TCIRG1-dependent recessive osteopetrosis: Mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA by Susani, Lucia, Pangrazio, Alessandra, Sobacchi, Cristina, Taranta, Anna, Mortier, Geert, Savarirayan, Ravi, Villa, Anna, Orchard, Paul, Vezzoni, Paolo, Albertini, Alberto, Frattini, Annalisa, Pagani, Franco

“…Human malignant infantile osteopetrosis (arOP) is a genetically heterogeneous autosomal recessive disorder of bone metabolism. The TCIRG1 gene, encoding the a3…”
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Rescue of ATPa3-Deficient Murine Malignant Osteopetrosis by Hematopoietic Stem Cell Transplantation in utero by Frattini, Annalisa, Blair, Harry C., Maria Grazia Sacco, Cerisoli, Francesco, Francesca Faggioli, Enrica Mira Catò, Alessandra Pangrazio, Antonio Musio, Francesca Rucci, Sobacchi, Cristina, Allison C. Sharrow, Kalla, Sara E., Bruzzone, Maria Grazia, Roberto Colombo, Magli, Maria Cristina, Vezzoni, Paolo, Villa, Anna

“…Autosomal recessive osteopetrosis (ARO) is a paradigm for genetic diseases that cause severe, often irreversible, defects before birth. In ARO, osteoclasts…”
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Characterization of a Novel Alu‐Alu Recombination‐Mediated Genomic Deletion in the TCIRG1 Gene in Five Osteopetrotic Patients by Pangrazio, Alessandra, Caldana, Maria Elena, Sobacchi, Cristina, Panaroni, Cristina, Susani, Lucia, Mihci, Ercan, Cavaliere, Maria Luigia, Giliani, Silvia, Villa, Anna, Frattini, Annalisa

“…Human malignant autosomal recessive osteopetrosis (ARO) is a genetically heterogeneous disorder caused by reduced bone resorption by osteoclasts. Biallelic…”
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Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis by Souraty, Noëlle, Noun, Peter, Djambas-Khayat, Claudia, Chouery, Eliane, Pangrazio, Alessandra, Villa, Anna, Lefranc, Gérard, Frattini, Annalisa, Mégarbané, André

“…Abstract Autosomal recessive osteopetrosis is a severe hereditary bone disease whose cellular basis is in the osteoclast, but with heterogeneous molecular…”
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Human Y-chromosome variation in the western Mediterranean area: implications for the peopling of the region by Scozzari, R, Cruciani, F, Pangrazio, A, Santolamazza, P, Vona, G, Moral, P, Latini, V, Varesi, L, Memmi, M M, Romano, V, De Leo, G, Gennarelli, M, Jaruzelska, J, Villems, R, Parik, J, Macaulay, V, Torroni, A

“…Y-chromosome variation was analyzed in a sample of 1127 males from the Western Mediterranean area by surveying 16 biallelic and 4 multiallelic sites. Some…”
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Patterns of male-specific inter-population divergence in Europe, West Asia and North Africa by MALASPINA, P, CRUCIANI, F, MALYARCHUK, B, MEHDI, S. Q, MICHALODIMITRAKIS, E, VARESI, L, MEMMI, M. M, VONA, G, VILLEMS, R, PARIK, J, ROMANO, V, STEFAN, M, SANTOLAMAZZA, P, STENICO, M, TERRENATO, L, NOVELLETTO, A, SCOZZARI, R, TORRONI, A, PANGRAZIO, A, AKAR, N, BAKALLI, V, BRDICKA, R, JARUZELSKA, J, KOZLOV, A

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Ludwig's angina by Pangrazio, A N

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Periapical surgery by Basualdo, M A, Pangrazio, A N

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