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| Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene AJ Coffey, RA Brooksbank, O Brandau, T Oohashi, GR Howell, JM Bye, ... Nature genetics 20 (2), 129-135, 1998 | 876 | 1998 |
| MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single … M Seri, A Pecci, F Di Bari, R Cusano, M Savino, E Panza, A Nigro, P Noris, ... Medicine 82 (3), 203-215, 2003 | 402 | 2003 |
| Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. M Seri, R Cusano, S Gangarossa, G Caridi, D Bordo, L Nigro, ... Nature genetics 26 (1), 103-105, 2000 | 397 | 2000 |
| Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families P Noris, S Perrotta, M Seri, A Pecci, C Gnan, G Loffredo, N Pujol-Moix, ... Blood, The Journal of the American Society of Hematology 117 (24), 6673-6680, 2011 | 318 | 2011 |
| Correlation of mutations of the SH2D1A gene and Epstein-Barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease J Sumegi, D Huang, A Lanyi, JD Davis, TA Seemayer, A Maeda, G Klein, ... Blood, The Journal of the American Society of Hematology 96 (9), 3118-3125, 2000 | 305 | 2000 |
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| ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population E Benetti, R Tita, O Spiga, A Ciolfi, G Birolo, A Bruselles, G Doddato, ... European Journal of Human Genetics 28 (11), 1602-1614, 2020 | 268 | 2020 |
| Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis G Caridi, R Bertelli, A Carrea, M Di Duca, P Catarsi, M Artero, M Carraro, ... Journal of the American Society of Nephrology 12 (12), 2742-2746, 2001 | 252 | 2001 |
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| Mutations in the 5′ UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2 T Pippucci, A Savoia, S Perrotta, N Pujol-Moix, P Noris, G Castegnaro, ... The American Journal of Human Genetics 88 (1), 115-120, 2011 | 237 | 2011 |
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| Position of nonmuscle myosin heavy chain IIA (NMMHC‐IIA) mutations predicts the natural history of MYH9‐related disease A Pecci, E Panza, N Pujol‐Moix, C Klersy, F Di Bari, V Bozzi, P Gresele, ... Human mutation 29 (3), 409-417, 2008 | 218 | 2008 |
| MYH9‐Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype–Phenotype Correlations A Pecci, C Klersy, P Gresele, KJD Lee, D De Rocco, V Bozzi, G Russo, ... Human Mutation 35 (2), 236-247, 2014 | 203 | 2014 |
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| Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene C Pescucci, F Mari, I Longo, P Vogiatzi, R Caselli, E Scala, C Abaterusso, ... Kidney international 65 (5), 1598-1603, 2004 | 182 | 2004 |
| Recurrent de novo and biallelic variation of ATAD3A, encoding a mitochondrial membrane protein, results in distinct neurological syndromes T Harel, WH Yoon, C Garone, S Gu, Z Coban-Akdemir, MK Eldomery, ... The American Journal of Human Genetics 99 (4), 831-845, 2016 | 171 | 2016 |
Tommaso PippucciIRCCS Azienda Ospedaliero-Universitaria di Bologna, Policlinico Sant'Orsola-Malpighi, Bologna, ItalyVerified email at unibo.it
