Mutations in the human Sonic Hedgehog gene cause holoprosencephaly E Roessler, E Belloni, K Gaudenz, P Jay, P Berta, SW Scherer, LC Tsui, ... Nature genetics 14 (3), 357-360, 1996 | 1351 | 1996 |
Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly E Belloni, M Muenke, E Roessler, G Traverse, J Siegel-Bartelt, A Frumkin, ... Nature genetics 14 (3), 353-356, 1996 | 820 | 1996 |
A serum circulating miRNA diagnostic test to identify asymptomatic high‐risk individuals with early stage lung cancer F Bianchi, F Nicassio, M Marzi, E Belloni, V Dall'Olio, L Bernard, G Pelosi, ... EMBO molecular medicine 3 (8), 495-503, 2011 | 414 | 2011 |
A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis AJ Ross, V Ruiz-Perez, Y Wang, DM Hagan, S Scherer, SA Lynch, ... Nature genetics 20 (4), 358-361, 1998 | 340 | 1998 |
Human chromosome 7: DNA sequence and biology SW Scherer, J Cheung, JR MacDonald, LR Osborne, K Nakabayashi, ... Science 300 (5620), 767-772, 2003 | 268 | 2003 |
Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly E Roessler, E Belloni, K Gaudenz, F Vargas, SW Scherer, LC Tsui, ... Human Molecular Genetics 6 (11), 1847-1853, 1997 | 202 | 1997 |
Involvement of the HLXB9 homeobox gene in Currarino syndrome E Belloni, G Martucciello, D Verderio, E Ponti, M Seri, V Jasonni, M Torre, ... The American Journal of Human Genetics 66 (1), 312-319, 2000 | 161 | 2000 |
Currarino syndrome: proposal of a diagnostic and therapeutic protocol G Martucciello, M Torre, E Belloni, M Lerone, AP Prato, A Cama, ... Journal of pediatric surgery 39 (9), 1305-1311, 2004 | 144 | 2004 |
Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly E Roessler, DE Ward, K Gaudenz, E Belloni, SW Scherer, D Donnai, ... Human genetics 100, 172-181, 1997 | 136 | 1997 |
8p11 myeloproliferative syndrome with a novel t(7;8) translocation leading to fusion of the FGFR1 and TIF1 genes E Belloni, M Trubia, P Gasparini, C Micucci, C Tapinassi, S Confalonieri, ... Genes, Chromosomes and Cancer 42 (3), 320-325, 2005 | 132 | 2005 |
Overexpression of sPRDM16 coupled with loss of p53 induces myeloid leukemias in mice DC Shing, M Trubia, F Marchesi, E Radaelli, E Belloni, C Tapinassi, ... The Journal of clinical investigation 117 (12), 3696-3707, 2007 | 78 | 2007 |
Clonal eosinophils are a morphologic hallmark of ETV6/ABL1 positive acute myeloid leukemia R La Starza, M Trubia, N Testoni, E Ottaviani, E Belloni, B Crescenzi, ... haematologica 87 (8), 789-794, 2002 | 76 | 2002 |
miR-494-3p is a novel tumor driver of lung carcinogenesis A Faversani, S Amatori, C Augello, F Colombo, L Porretti, M Fanelli, ... Oncotarget 8 (5), 7231, 2017 | 72 | 2017 |
Inborn errors of development: the molecular basis of clinical disorders of morphogenesis CJ Epstein, RP Erickson, AJ Wynshaw-Boris Oxford University Press, USA, 2004 | 69 | 2004 |
Localization of two metabotropic glutamate receptor genes, GRM3andGRM8, to human chromosome 7q SW Scherer, RM Duvoisin, R Kuhn, HHQ Heng, E Belloni, LC Tsui Genomics 31 (2), 230-233, 1996 | 58 | 1996 |
Chromosomal localization in mouse and human of the vasoactive intestinal peptide receptor type 2 gene: a possible contributor to the holoprosencephaly 3 phenotype M Mackay, J Fantes, S Scherer, S Boyle, K West, LC Tsui, E Belloni, ... Genomics 37 (3), 345-353, 1996 | 53 | 1996 |
Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes L Cremonesi, M Ferrari, E Belloni, C Magnani, M Seia, P Ronchetto, ... Human mutation 1 (4), 314-319, 1992 | 51 | 1992 |
Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly FR Vargas, E Roessler, K Gaudenz, E Belloni, AS Whitehead, PN Kirke, ... Human genetics 102, 387-392, 1998 | 50 | 1998 |
Molecular characterization of at (1; 3)(p36; q21) in a patient with MDS. MEL1 is widely expressed in normal tissues, including bone marrow, and it is not overexpressed in the t … I Lahortiga, X Agirre, E Belloni, I Vazquez, MJ Larrayoz, P Gasparini, ... Oncogene 23 (1), 311-316, 2004 | 47 | 2004 |
Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency MJ Nowaczyk, MJ Huggins, DJ Tomkins, E Rossi, JA Ramsay, J Woulfe, ... Clinical genetics 57 (5), 388-393, 2000 | 31 | 2000 |