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.

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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

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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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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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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

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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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Global 30-Day Morbidity and Mortality of Primary Bariatric Surgery Combined with Another Procedure: The BLEND Study by Martinino, Alessandro, Nanayakkara, Kushan D. L., Madhok, Brij, Wong, Geoffrey Yuet Mun, Abouelazayem, Mohamed, Pereira, Juan Pablo Scarano, Wazir, Ishaan, Balasubaramaniam, Vignesh, Said, Amira, Marques, Cláudia, Abdelbaeth, Amr, Al-Shami, Khayry, Albashari, Muna, Alkaseek, Akram, Almayouf, Mohammad Abdullah, Aloulou, Mohammad, Alqahtan, Awadh Robaan, Askari, Alan, Attia, Meena Faiez Assad, Awad, Ahmed K., Aykota, Muhammed Rasid, Bacalbasa, Nicolae, Barrera-Rodriguez, Francisco J., Benavoli, Domenico, Billa, Srikar, Borrelli, Vincenzo, Çalıkoğlu, İsmail, Campanelli, Michela, Carbajo, Miguel A., Chowdhury, Sharfuddin, Cristin, Luca, Dapri, Giovanni, Dong, Zhiyong, Elfawal, Mohamad Hayssam, Elgazar, Amr, Elhadi, Muhammed, Gentileschi, Paolo, Graham, Yitka, Haj, Bassel, Johnson, Joseph Andrew, Kalmoush, Abd-Elfattah Morsi, Kamal, Ayman, Kamocka, Anna, Khamees, Almu’atasim, Lisi, Giorgio, Hernandez, Edgard Efren Lozada, Marinari, Giuseppe M., Martines, Gennaro, Meric, Serhat, Mier, Fernando, Ali, Ahmed Mohamed, Mohammed, Diyaaldeen, Mohamed, Karim Mostafa, Mulita, Francesk, Musella, Mario, O’Malley, William Edward, Olmi, Stefano, Omarov, Taryel, Osama, Omnya, Perera, HMinali R., Piscitelli, Giovanni, Poghosyan, Tigran, Ramírez, David, Rezvani, Masoud, Ribeiro, Rui, Sabbota, Aaron, Sakran, Nasser, Sawaftah, Khaled Ahmad, Schiavone, Kaci, Şen, Ozan, Sotiropoulou, Maria, Tartaglia, Nicola, Tokocin, Merve, Trotta, Manuela, Türkçapar, Ahmet Gökhan, Uccelli, Matteo, Vargas, Cesar, Verras, Georgios -Ioannis, Wang, Cunchuan, Wei, Zhuoqi, Yang, Wah, Zerrweck, Carlos, Owen, Eloise, Gkoutos, Georgios V., Cardoso, Victor Roth, Singhal, Rishi, Mahawar, Kamal

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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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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

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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

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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

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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

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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.

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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

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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

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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

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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

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RANKL Cytokine : From Pioneer of the Osteoimmunology Era to Cure for a Rare Disease by Lo Iacono, Nadia, Pangrazio, Alessandra, Abinun, Mario, Bredius, Robbert, Zecca, Marco, Blair, Harry C., Vezzoni, Paolo, Villa, Anna, Sobacchi, Cristina

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Reconceptualising critical digital literacy by Pangrazio, Luciana

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