Search Results - "Oppo, Manuela"

Genetic Variants Regulating Immune Cell Levels in Health and Disease by Orrù, Valeria, Steri, Maristella, Sole, Gabriella, Sidore, Carlo, Virdis, Francesca, Dei, Mariano, Lai, Sandra, Zoledziewska, Magdalena, Busonero, Fabio, Mulas, Antonella, Floris, Matteo, Mentzen, Wieslawa I., Urru, Silvana A.M., Olla, Stefania, Marongiu, Michele, Piras, Maria G., Lobina, Monia, Maschio, Andrea, Pitzalis, Maristella, Urru, Maria F., Marcelli, Marco, Cusano, Roberto, Deidda, Francesca, Serra, Valentina, Oppo, Manuela, Pilu, Rosella, Reinier, Frederic, Berutti, Riccardo, Pireddu, Luca, Zara, Ilenia, Porcu, Eleonora, Kwong, Alan, Brennan, Christine, Tarrier, Brendan, Lyons, Robert, Kang, Hyun M., Uzzau, Sergio, Atzeni, Rossano, Valentini, Maria, Firinu, Davide, Leoni, Lidia, Rotta, Gianluca, Naitza, Silvia, Angius, Andrea, Congia, Mauro, Whalen, Michael B., Jones, Chris M., Schlessinger, David, Abecasis, Gonçalo R., Fiorillo, Edoardo, Sanna, Serena, Cucca, Francesco

“…The complex network of specialized cells and molecules in the immune system has evolved to defend against pathogens, but inadvertent immune system attacks on…”
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Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1 by Palagano, Eleonora, Zuccarini, Giulia, Prontera, Paolo, Borgatti, Renato, Stangoni, Gabriela, Elisei, Sandro, Mantero, Stefano, Menale, Ciro, Forlino, Antonella, Uva, Paolo, Oppo, Manuela, Vezzoni, Paolo, Villa, Anna, Merlo, Giorgio R., Sobacchi, Cristina

“…Acrofrontofacionasal Dysostosis type 1 (AFFND1) is an extremely rare, autosomal recessive syndrome, comprising facial and skeletal abnormalities, short stature…”
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Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human Osteopetrosis by Palagano, Eleonora, Susani, Lucia, Menale, Ciro, Ramenghi, Ugo, Berger, Massimo, Uva, Paolo, Oppo, Manuela, Vezzoni, Paolo, Villa, Anna, Sobacchi, Cristina

“…ABSTRACT Autosomal recessive osteopetroses (AROs) are rare, genetically heterogeneous skeletal diseases with increased bone density that are often lethal if…”
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Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis by Pangrazio, Alessandra, Puddu, Alessandro, Oppo, Manuela, Valentini, Maria, Zammataro, Luca, Vellodi, Ashok, Gener, Blanca, Llano-Rivas, Isabel, Raza, Jamal, Atta, Irum, Vezzoni, Paolo, Superti-Furga, Andrea, Villa, Anna, Sobacchi, Cristina

“…Abstract Autosomal Recessive Osteopetrosis is a genetic disorder characterized by increased bone density due to lack of resorption by the osteoclasts. Genetic…”
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A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman by Palombo, Flavia, Al-Wardy, Nadia, Ruscone, Guido Alberto Gnecchi, Oppo, Manuela, Kindi, Mohammed Nasser Al, Angius, Andrea, Al Lamki, Khalsa, Girotto, Giorgia, Giangregorio, Tania, Benelli, Matteo, Magi, Alberto, Seri, Marco, Gasparini, Paolo, Cucca, Francesco, Sazzini, Marco, Al Khabori, Mazin, Pippucci, Tommaso, Romeo, Giovanni

“…The increased risk for autosomal recessive disorders is one of the most well-known medical implications of consanguinity. In the Sultanate of Oman, a country…”
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Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report by Alves, Rita Maria, Uva, Paolo, Veiga, Marielza F, Oppo, Manuela, Zschaber, Fabiana C R, Porcu, Giampiero, Porto, Henrique P, Persico, Ivana, Onano, Stefano, Cuccuru, Gianmauro, Atzeni, Rossano, Vieira, Lauro C N, Pires, Marcos V A, Cucca, Francesco, Toralles, Maria Betânia P, Angius, Andrea, Crisponi, Laura

“…KBG syndrome is a very rare autosomal dominant disorder, characterized by macrodontia, distinctive craniofacial findings, skeletal findings, post-natal short…”
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A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman by Palombo, Flavia, Al-Wardy, Nadia, Ruscone, Guido Alberto Gnecchi, Oppo, Manuela, Kindi, Mohammed Nasser Al, Angius, Andrea, Al Lamki, Khalsa, Girotto, Giorgia, Giangregorio, Tania, Benelli, Matteo, Magi, Alberto, Seri, Marco, Gasparini, Paolo, Cucca, Francesco, Sazzini, Marco, Al Khabori, Mazin, Pippucci, Tommaso, Romeo, Giovanni

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Low-Pass DNA Sequencing of 1200 Sardinians Reconstructs European Y-Chromosome Phylogeny by Francalacci, Paolo, Morelli, Laura, Angius, Andrea, Berutti, Riccardo, Reinier, Frederic, Atzeni, Rossano, Pilu, Rosella, Busonero, Fabio, Maschio, Andrea, Zara, Ilenia, Sanna, Daria, Useli, Antonella, Urru, Maria Francesca, Marcelli, Marco, Cusano, Roberto, Oppo, Manuela, Zoledziewska, Magdalena, Pitzalis, Maristella, Deidda, Francesca, Porcu, Eleonora, Poddie, Fausto, Kang, Hyun Min, Lyons, Robert, Tarrier, Brendan, Gresham, Jennifer Bragg, Li, Bingshan, Tofanelli, Sergio, Alonso, Santos, Dei, Mariano, Lai, Sandra, Mulas, Antonella, Whalen, Michael B., Uzzau, Sergio, Jones, Chris, Schlessinger, David, Abecasis, Gonçalo R., Sanna, Serena, Sidore, Carlo, Cucca, Francesco

“…Genetic variation within the male-specific portion of the Y chromosome (MSY) can clarify the origins of contemporary populations, but previous studies were…”
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Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis by Palagano, Eleonora, Blair, Harry C, Pangrazio, Alessandra, Tourkova, Irina, Strina, Dario, Angius, Andrea, Cuccuru, Gianmauro, Oppo, Manuela, Uva, Paolo, Van Hul, Wim, Boudin, Eveline, Superti‐Furga, Andrea, Faletra, Flavio, Nocerino, Agostino, Ferrari, Matteo C, Grappiolo, Guido, Monari, Marta, Montanelli, Alessandro, Vezzoni, Paolo, Villa, Anna, Sobacchi, Cristina

“…Autosomal recessive osteopetrosis (ARO) is a rare genetic bone disease with genotypic and phenotypic heterogeneity, sometimes translating into delayed…”
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Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP by Angius, Andrea, Uva, Paolo, Oppo, Manuela, Persico, Ivana, Onano, Stefano, Olla, Stefania, Pes, Valentina, Perria, Chiara, Cuccuru, Gianmauro, Atzeni, Rossano, Serra, Gigliola, Cucca, Francesco, Sotgiu, Stefano, Hennekam, Raoul C., Crisponi, Laura

“…We report here a novel de novo missense variant affecting the last amino acid of exon 30 of CREBBP [NM_004380, c.5170G>A; p.(Glu1724Lys)] in a 17‐year‐old boy…”
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Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa by Angius, Andrea, Uva, Paolo, Buers, Insa, Oppo, Manuela, Puddu, Alessandro, Onano, Stefano, Persico, Ivana, Loi, Angela, Marcia, Loredana, Höhne, Wolfgang, Cuccuru, Gianmauro, Fotia, Giorgio, Deiana, Manila, Marongiu, Mara, Atalay, Hatice Tuba, Inan, Sibel, El Assy, Osama, Smit, Leo M.E., Okur, Ilyas, Boduroglu, Koray, Utine, Gülen Eda, Kılıç, Esra, Zampino, Giuseppe, Crisponi, Giangiorgio, Crisponi, Laura, Rutsch, Frank

“…Crisponi syndrome (CS)/cold-induced sweating syndrome type 1 (CISS1) is a very rare autosomal-recessive disorder characterized by a complex phenotype with high…”
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Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies by Reinier, Frederic, Zoledziewska, Magdalena, Hanna, David, Smith, Josh D, Valentini, Maria, Zara, Ilenia, Berutti, Riccardo, Sanna, Serena, Oppo, Manuela, Cusano, Roberto, Satta, Rosanna, Montesu, Maria Antonietta, Jones, Chris, Cerimele, Decio, Nickerson, Deborah A, Angius, Andrea, Cucca, Francesco, Cottoni, Francesca, Crisponi, Laura

“…Abstract Background Lipodystrophies are a large heterogeneous group of genetic or acquired disorders characterized by generalized or partial fat loss, usually…”
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Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa by Angius, Andrea, Uva, Paolo, Buers, Insa, Oppo, Manuela, Puddu, Alessandro, Onano, Stefano, Persico, Ivana, Loi, Angela, Marcia, Loredana, Höhne, Wolfgang, Cuccuru, Gianmauro, Fotia, Giorgio, Deiana, Manila, Marongiu, Mara, Atalay, Hatice Tuba, Inan, Sibel, El Assy, Osama, Smit, Leo M.E., Okur, Ilyas, Boduroglu, Koray, Utine, Gülen Eda, Kılıç, Esra, Zampino, Giuseppe, Crisponi, Giangiorgio, Crisponi, Laura, Rutsch, Frank

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Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses by Angius, Andrea, Uva, Paolo, Oppo, Manuela, Buers, Insa, Persico, Ivana, Onano, Stefano, Cuccuru, Gianmauro, Van Allen, Margot I., Hulait, Gurdip, Aubertin, Gudrun, Muntoni, Francesco, Fry, Andrew E., Annerén, Göran, Stattin, Eva‐Lena, Palomares‐Bralo, María, Santos‐Simarro, Fernando, Cucca, Francesco, Crisponi, Giangiorgio, Rutsch, Frank, Crisponi, Laura

“…Crisponi/cold‐induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder characterized by a complex phenotype (hyperthermia and feeding…”
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