Search Results - "Signa, S"

Widening the Neuroimaging Features of Adenosine Deaminase 2 Deficiency by Geraldo, A F, Caorsi, R, Tortora, D, Gandolfo, C, Ammendola, R, Alessio, M, Conti, G, Insalaco, A, Pastore, S, Martino, S, Ceccherini, I, Signa, S, Gattorno, M, Rossi, A, Severino, M

“…Adenosine deaminase 2 deficiency (OMIM #615688) is an autosomal recessive disorder characterized by a wide clinical spectrum, including small- and medium-sized…”
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Recurrence of previous chilblain lesions during the second wave of COVID‐19: can we still doubt the correlation with SARS‐CoV‐2? by Signa, S., Sementa, A.R., Coccia, M.C., Pastorino, C., Viglizzo, G., Viola, S., Volpi, S., Occella, C., Bleidl, D., Acquila, M., Castagnola, E., Ravelli, A., Manunza, F.

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Whole exome sequencing approach to childhood onset familial erythrodermic psoriasis unravels a novel mutation of CARD14 requiring unusual high doses of ustekinumab by Signa, S, Campione, E, Rusmini, M, Chiesa, S, Grossi, A, Omenetti, A, Caorsi, R, Viglizzo, G M, Galluzzo, M, Bianchi, L, Talamonti, M, Orlandi, A, Martini, A, Ceccherini, I, Gattorno, M

“…Autosomal dominant gain of function mutations in caspase recruitment domain family member 14 (CARD14) is a rare condition associated with plaque-type…”
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De novo 13q31.1-q32.1 interstitial deletion encompassing the miR-17-92 cluster in a patient with Feingold syndrome-2 by Tassano, E., Di Rocco, M., Signa, S., Gimelli, G.

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Widening the Neuroimaging Features of Adenosine Deaminase 2 Deficiency by Geraldo, A.F., Caorsi, R., Tortora, D., Gandolfo, C., Ammendola, R., Alessio, M., Conti, G., Insalaco, A., Pastore, S., Martino, S., Ceccherini, I., Signa, S., Gattorno, M., Rossi, A., Severino, M.

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PP79 POTENTIAL CELIAC DISEASE: POSSIBLE MARKERS OF EVOLUTION TO OVERT DISEASE by Tronconi, G.M, Signa, S, Corsin, P, Barera, G

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Severe erytrodermic psoriasis and arthritis as clinical presentation of a CARD14-mediated psoriasis (CAMPS) by Signa, S, Rusmini, M, Campione, E, Gueli, I, Grossi, A, Omenetti, A, Bianchi, L, Martini, A, Ceccherini, I, Gattorno, M

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Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy by Bonora, Elena, Chakrabarty, Sanjiban, Kellaris, Georgios, Tsutsumi, Makiko, Bianco, Francesca, Bergamini, Christian, Ullah, Farid, Isidori, Federica, Liparulo, Irene, Diquigiovanni, Chiara, Masin, Luca, Rizzardi, Nicola, Cratere, Mariapia Giuditta, Boschetti, Elisa, Papa, Valentina, Maresca, Alessandra, Cenacchi, Giovanna, Casadio, Rita, Martelli, Pierluigi, Matera, Ivana, Ceccherini, Isabella, Fato, Romana, Raiola, Giuseppe, Arrigo, Serena, Signa, Sara, Sementa, Angela Rita, Severino, Mariasavina, Striano, Pasquale, Fiorillo, Chiara, Goto, Tsuyoshi, Uchino, Shumpei, Oyazato, Yoshinobu, Nakamura, Hisayoshi, Mishra, Sushil K, Yeh, Yu-Sheng, Kato, Takema, Nozu, Kandai, Tanboon, Jantima, Morioka, Ichiro, Nishino, Ichizo, Toda, Tatsushi, Goto, Yu-Ichi, Ohtake, Akira, Kosaki, Kenjiro, Yamaguchi, Yoshiki, Nonaka, Ikuya, Iijima, Kazumoto, Mimaki, Masakazu, Kurahashi, Hiroki, Raams, Anja, MacInnes, Alyson, Alders, Mariel, Engelen, Marc, Linthorst, Gabor, de Koning, Tom, den Dunnen, Wilfred, Dijkstra, Gerard, van Spaendonck, Karin, van Gent, Dik C, Aronica, Eleonora M, Picco, Paolo, Carelli, Valerio, Seri, Marco, Katsanis, Nicholas, Duijkers, Floor A M, Taniguchi-Ikeda, Mariko, De Giorgio, Roberto

“…Abnormal gut motility is a feature of several mitochondrial encephalomyopathies, and mutations in genes such as TYMP and POLG, have been linked to these rare…”
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Intestinal malrotation with intestinal volvolus: A rare cause of chronic diarrhea with malabsoption in childhood by Signa, S., Mariani, M., Arrigo, S., Gandullia, P., Mattioli, G., Barabino, A.

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Targeted re-sequencing in pediatric and perinatal stroke by Grossi, Alice, Severino, Mariasavina, Rusmini, Marta, Tortora, Domenico, Ramenghi, Luca A., Cama, Armando, Rossi, Andrea, Di Rocco, Maja, Ceccherini, Isabella, Bertamino, Marta, G, Amico, L, Banov, V, Capra, R, Caorsi, F, Caroli, C, Gandolfo, T, Giacomini, AC, Molinari, P, Moretti, A, Moscatelli, L, Nobili, A, Palmieri, M, Pavanello, G, Prato, A, Rimini, A, Ronchetti, S, Signa, S, Uccella

“…Pediatric and perinatal stroke can present as an early symptom in undiagnosed syndromes characterized by simple Mendelian inheritance. In order to diagnose…”
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PReS-FINAL-2237: The diagnostic challenge of osteolytic bone lesions in autoinflammatory diseases: a case report by Caorsi, R, Picco, P, Buoncompagni, A, Signa, S, Minoia, F, Federici, S, Martini, A, Gattorno, M

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PW02-010 - The diagnostic challenge of bone lesions in AID by Caorsi, R, Picco, P, Buoncompagni, A, Signa, S, Minoia, F, Federici, S, Martini, A, Gattorno, M

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PW01-039 – Long-term efficacy of anakinra in SoJIA patients by Naselli, A, Tibaldi, J, Accogli, A, Buoncompagni, A, Viola, S, Signa, S, Picco, P, Ravelli, A, Martini, A, Gattorno, M

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PReS-FINAL-2196: The clinical significance of the Q703K mutation of NLRP3 gene. A multicentric national study by Naselli, A, Cantarini, L, Insalaco, A, Alessio, M, Tommasini, A, Gallizzi, R, Signa, S, Lucherini, OM, Caroli, F, Ceccherini, I, Martini, A, Gattorno, M

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