Search Results - "Onano, Stefano"

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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Complex genetic signatures in immune cells underlie autoimmunity and inform therapy by Orrù, Valeria, Steri, Maristella, Sidore, Carlo, Marongiu, Michele, Serra, Valentina, Olla, Stefania, Sole, Gabriella, Lai, Sandra, Dei, Mariano, Mulas, Antonella, Virdis, Francesca, Piras, Maria Grazia, Lobina, Monia, Marongiu, Mara, Pitzalis, Maristella, Deidda, Francesca, Loizedda, Annalisa, Onano, Stefano, Zoledziewska, Magdalena, Sawcer, Stephen, Devoto, Marcella, Gorospe, Myriam, Abecasis, Gonçalo R., Floris, Matteo, Pala, Mauro, Schlessinger, David, Fiorillo, Edoardo, Cucca, Francesco

“…We report on the influence of ~22 million variants on 731 immune cell traits in a cohort of 3,757 Sardinians. We detected 122 significant ( P  < 1.28 × 10 −11…”
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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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Author Correction: Complex genetic signatures in immune cells underlie autoimmunity and inform therapy by Orrù, Valeria, Steri, Maristella, Sidore, Carlo, Marongiu, Michele, Serra, Valentina, Olla, Stefania, Sole, Gabriella, Lai, Sandra, Dei, Mariano, Mulas, Antonella, Virdis, Francesca, Piras, Maria Grazia, Lobina, Monia, Marongiu, Mara, Pitzalis, Maristella, Deidda, Francesca, Loizedda, Annalisa, Onano, Stefano, Zoledziewska, Magdalena, Sawcer, Stephen, Devoto, Marcella, Gorospe, Myriam, Abecasis, Gonçalo R., Floris, Matteo, Pala, Mauro, Schlessinger, David, Fiorillo, Edoardo, Cucca, Francesco

“…An amendment to this paper has been published and can be accessed via a link at the top of the paper…”
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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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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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