Hirschsprung disease, associated syndromes and genetics: a review
Amiel, J, Sproat-Emison, E, Garcia-Barcelo, M, Lantieri, F, Burzynski, G, Borrego, S, Pelet, A, Arnold, S, Miao, X, Griseri, P, Brooks, A S, Antinolo, G, de Pontual, L, Clement-Ziza, M, Munnich, A, Kashuk, C, West, K, Wong, K K-Y, Lyonnet, S, Chakravarti, A, Tam, P K-H, Ceccherini, I, Hofstra, R M W, Fernandez, R
Published in Journal of Medical Genetics (01.01.2008)
Published in Journal of Medical Genetics (01.01.2008)
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Whole genome sequencing in ROHHAD trios proved inconclusive: what’s beyond?
Grossi, A., Rusmini, M., Cusano, R., Massidda, M., Santamaria, G., Napoli, F., Angelelli, A., Fava, D., Uva, P., Ceccherini, I., Maghnie, M.
Published in Frontiers in genetics (07.08.2023)
Published in Frontiers in genetics (07.08.2023)
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Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation
Di Rocco, M., Rusmini, M., Caroli, F., Madeo, A., Bertamino, M., Marre‐Brunenghi, G., Ceccherini, I.
Published in Clinical genetics (01.03.2018)
Published in Clinical genetics (01.03.2018)
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A unicentric cross-sectional observational study on chronic intestinal inflammation in total colonic aganglionosis: beware of an underestimated condition
Erculiani, M, Poluzzi, F, Mottadelli, G, Felici, E, ML, Novi, Caraccia, M, Grandi, A, Casella, S, Giacometti, L, Montobbio, G, Ceccherini, I, Di Marco, E, Bonaretti, C, Biassoni, R, Squillario, M, Pietrantoni, A, Villanacci, V, Pini Prato, A
Published in Orphanet journal of rare diseases (27.10.2023)
Published in Orphanet journal of rare diseases (27.10.2023)
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Widening the Neuroimaging Features of Adenosine Deaminase 2 Deficiency
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
Published in American journal of neuroradiology : AJNR (01.05.2021)
Published in American journal of neuroradiology : AJNR (01.05.2021)
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Guidelines for the genetic diagnosis of hereditary recurrent fevers
Shinar, Y, Obici, L, Aksentijevich, I, Bennetts, B, Austrup, F, Ceccherini, I, Costa, J M, De Leener, A, Gattorno, M, Kania, U, Kone-Paut, I, Lezer, S, Livneh, A, Moix, I, Nishikomori, R, Ozen, S, Phylactou, L, Risom, L, Rowczenio, D, Sarkisian, T, van Gijn, M E, Witsch-Baumgartner, M, Morris, M, Hoffman, H M, Touitou, I
Published in Annals of the Rheumatic Diseases (01.10.2012)
Published in Annals of the Rheumatic Diseases (01.10.2012)
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Book Review
Clinical presentation and pathogenesis of cold‐induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation
Borghini, S., Tassi, S., Chiesa, S., Caroli, F., Carta, S., Caorsi, R., Fiore, M., Delfino, L., Lasigliè, D., Ferraris, C., Traggiai, E., Di Duca, M., Santamaria, G., D'Osualdo, A., Tosca, M., Martini, A., Ceccherini, I., Rubartelli, A., Gattorno, M.
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.03.2011)
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.03.2011)
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Late‐onset and long‐lasting neutropenias in the young: A new entity anticipating immune‐dysregulation disorders
Fioredda, F., Beccaria, A., Casartelli, P., Turrini, E., Contratto, C., Giarratana, M. C., Bagnasco, F., Saettini, F., Pillon, M., Marzollo, A., Zanardi, S., Civino, A., Onofrillo, D., Lanciotti, M., Ceccherini, I., Grossi, A., Coviello, D., Terranova, P., Lupia, M., Del Borrello, G., Uva, P., Cangelosi, D., Cavalca, G., Miano, M., Dufour, C.
Published in American journal of hematology (01.04.2024)
Published in American journal of hematology (01.04.2024)
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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
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
Published in Pediatric Rheumatology (08.07.2019)
Published in Pediatric Rheumatology (08.07.2019)
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Long‐term clinical profile of children with the low‐penetrance R92Q mutation of the TNFRSF1A gene
Pelagatti, M. A., Meini, A., Caorsi, R., Cattalini, M., Federici, S., Zulian, F., Calcagno, G., Tommasini, A., Bossi, G., Sormani, M. P., Caroli, F., Plebani, A., Ceccherini, I., Martini, A., Gattorno, M.
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.04.2011)
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.04.2011)
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Can MR imaging diagnose adult-onset Alexander disease?
Farina, L, Pareyson, D, Minati, L, Ceccherini, I, Chiapparini, L, Romano, S, Gambaro, P, Fancellu, R, Savoiardo, M
Published in American journal of neuroradiology : AJNR (01.06.2008)
Published in American journal of neuroradiology : AJNR (01.06.2008)
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PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome
Matera, I, Bachetti, T, Puppo, F, Di Duca, M, Morandi, F, Casiraghi, G M, Cilio, M R, Hennekam, R, Hofstra, R, Schöber, J G, Ravazzolo, R, Ottonello, G, Ceccherini, I
Published in Journal of medical genetics (01.05.2004)
Published in Journal of medical genetics (01.05.2004)
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Journal Article
Widening the Neuroimaging Features of Adenosine Deaminase 2 Deficiency
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.
Published in American journal of neuroradiology : AJNR (01.05.2021)
Published in American journal of neuroradiology : AJNR (01.05.2021)
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Clinical and genetic characterization of Italian patients affected by CINCA syndrome
Caroli, F., Pontillo, A., D'Osualdo, A., Travan, L., Ceccherini, I., Crovella, S., Alessio, M., Stabile, A., Gattorno, M., Tommasini, A., Martini, A., Lepore, L.
Published in Rheumatology (Oxford, England) (01.03.2007)
Published in Rheumatology (Oxford, England) (01.03.2007)
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210 Genetic and epigenetic factors affect RET gene expression in breast cancer cell lines and influence survival in patients
Griseri, P, Garrone, O, Lo Sardo, A, Monteverde, M, Rusmini, M, Tonissi, F, Merlano, M, Bruzzi, P, Ceccherini, I, Nigro, C. Lo
Published in European journal of cancer (1990) (01.09.2015)
Published in European journal of cancer (1990) (01.09.2015)
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P810: BONE MARROW FAILURE IN PATIENTS CARRYING VARIANTS ON CARD11 GENE
Beccaria, A., Grossi, A., Fioredda, F., Lanciotti, M., Palmisani, E., Terranova, P., Lupia, M., Dell'Orso, G., Ceccherini, I., Dufour, C., Miano, M.
Published in HemaSphere (23.06.2022)
Published in HemaSphere (23.06.2022)
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THU0528 Severe Erytrodermic Psoriasis and Arthritis as Clinical Presentation of a Card14-Mediated Pustular Psoriasis (CAMPS)
Signa, S., Rusmini, M., Campione, E., Gueli, I., Grossi, A., Omenetti, A., Bianchi, L., Martini, A., Ceccherini, I., Gattorno, M.
Published in Annals of the rheumatic diseases (01.06.2015)
Published in Annals of the rheumatic diseases (01.06.2015)
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Thrombotic thrombocytopenic purpura and defective apoptosis due to CASP8/10 mutations: the role of mycophenolate mofetil
Fioredda, F., Cappelli, E., Mariani, A., Beccaria, A., Palmisani, E., Grossi, A., Ceccherini, I., Venè, R., Micalizzi, C., Calvillo, M., Pierri, F., Mancini, I., Peyvandi, F., Corsolini, F., Dufour, C., Miano, M.
Published in Blood advances (12.11.2019)
Published in Blood advances (12.11.2019)
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SAT0484 Prevalence of Cecr1 Mutations in Pediatric Patients with Polyarteritis Nodosa, Livedo Reticularis and/or Stroke
Caorsi, R., Grossi, A., Insalaco, A., Alessio, M., Martino, S., Cortis, E., Morreale, A., Caroli, F., Martini, A., Ceccherini, I., Gattorno, M.
Published in Annals of the rheumatic diseases (01.06.2015)
Published in Annals of the rheumatic diseases (01.06.2015)
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