X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations A Musio, A Selicorni, ML Focarelli, C Gervasini, D Milani, S Russo, ... Nature genetics 38 (5), 528-530, 2006 | 510 | 2006 |
Prognostic impact of c-KIT mutations in core binding factor leukemias: an Italian retrospective study R Cairoli, A Beghini, G Grillo, G Nadali, F Elice, CB Ripamonti, ... Blood 107 (9), 3463-3468, 2006 | 484 | 2006 |
C-kit mutations in core binding factor leukemias A Beghini, P Peterlongo, CB Ripamonti, L Larizza, R Cairoli, E Morra, ... Blood, The Journal of the American Society of Hematology 95 (2), 726-728, 2000 | 368 | 2000 |
Rothmund-thomson syndrome L Larizza, G Roversi, L Volpi Orphanet journal of rare diseases 5, 1-16, 2010 | 309 | 2010 |
Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa A Beghini, MG Tibiletti, G Roversi, AM Chiaravalli, G Serio, C Capella, ... Cancer: Interdisciplinary International Journal of the American Cancer …, 2001 | 274 | 2001 |
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome J Bliek, G Verde, J Callaway, SM Maas, A De Crescenzo, A Sparago, ... European Journal of Human Genetics 17 (5), 611-619, 2009 | 268 | 2009 |
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly M Giannandrea, V Bianchi, ML Mignogna, A Sirri, S Carrabino, E d'Elia, ... The American Journal of Human Genetics 86 (2), 185-195, 2010 | 265 | 2010 |
Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms WP Kloosterman, M Tavakoli-Yaraki, MJ van Roosmalen, ... Cell reports 1 (6), 648-655, 2012 | 230 | 2012 |
RNA hyperediting and alternative splicing of hematopoietic cell phosphatase (PTPN6) gene in acute myeloid leukemia A Beghini, CB Ripamonti, P Peterlongo, G Roversi, R Cairoli, E Morra, ... Human molecular genetics 9 (15), 2297-2304, 2000 | 197 | 2000 |
KIT activating mutations: incidence in adult and pediatric acute myeloid leukemia, and identification of an internal tandem duplication A Beghini, CB Ripamonti, R Cairoli, G Cazzaniga, P Colapietro, F Elice, ... haematologica 89 (8), 920-925, 2004 | 193 | 2004 |
Genomic inversions of human chromosome 15q11–q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions G Gimelli, MA Pujana, MG Patricelli, S Russo, D Giardino, L Larizza, ... Human molecular genetics 12 (8), 849-858, 2003 | 163 | 2003 |
Epigenetic modulation of the IGF2/H19 imprinted domain in human embryonic and extra-embryonic compartments and its possible role in fetal growth restriction S Tabano, P Colapietro, I Cetin, FR Grati, S Zanutto, C Mandò, ... Epigenetics 5 (4), 313-324, 2010 | 159 | 2010 |
Cancer risk in Beckwith-Wiedemann syndrome: a systematic review and meta-analysis outlining a novel (Epi) genotype specific histotype targeted screening protocol A Mussa, C Molinatto, G Baldassarre, E Riberi, S Russo, L Larizza, ... The Journal of pediatrics 176, 142-149. e1, 2016 | 158 | 2016 |
Eleven X chromosome breakpoints associated with premature ovarian failure (POF) map to a 15-Mb YAC contig spanning Xq21 C Sala, G Arrigo, G Torri, F Martinazzi, P Riva, L Larizza, C Philippe, ... Genomics 40 (1), 123-131, 1997 | 158 | 1997 |
Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene L Volpi, G Roversi, EA Colombo, N Leijsten, D Concolino, A Calabria, ... The American Journal of Human Genetics 86 (1), 72-76, 2010 | 156 | 2010 |
Prevalence of Beckwith–Wiedemann syndrome in north west of Italy A Mussa, S Russo, A De Crescenzo, N Chiesa, C Molinatto, A Selicorni, ... American journal of medical genetics Part A 161 (10), 2481-2486, 2013 | 141 | 2013 |
Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour A Sparago, S Russo, F Cerrato, S Ferraiuolo, P Castorina, A Selicorni, ... Human molecular genetics 16 (3), 254-264, 2007 | 141 | 2007 |
(Epi) genotype–phenotype correlations in Beckwith–Wiedemann syndrome A Mussa, S Russo, A De Crescenzo, A Freschi, L Calzari, S Maitz, ... European journal of human genetics 24 (2), 183-190, 2016 | 140 | 2016 |
13q Deletion and central nervous system anomalies: further insights from karyotype–phenotype analyses of 14 patients L Ballarati, E Rossi, MT Bonati, S Gimelli, P Maraschio, P Finelli, S Giglio, ... Journal of Medical Genetics 44 (1), e60-e60, 2007 | 138 | 2007 |
Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation A Selicorni, S Russo, C Gervasini, P Castronovo, D Milani, F Cavalleri, ... Clinical genetics 72 (2), 98-108, 2007 | 132 | 2007 |