Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies FR Grati, D Molina Gomes, JCPB Ferreira, C Dupont, V Alesi, L Gouas, ... Prenatal diagnosis 35 (8), 801-809, 2015 | 241 | 2015 |
Altered expression of mitochondrial and extracellular matrix genes in the heart of human fetuses with chromosome 21 trisomy A Conti, F Fabbrini, P D'Agostino, R Negri, D Greco, R Genesio, ... BMC genomics 8 (1), 1-15, 2007 | 145 | 2007 |
The two-domain hypothesis in Beckwith–Wiedemann syndrome: autonomous imprinting of the telomeric domain of the distal chromosome 7 cluster F Cerrato, A Sparago, ID Matteo, X Zou, W Dean, H Sasaki, P Smith, ... Human molecular genetics 14 (4), 503-511, 2005 | 81 | 2005 |
A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2 E Mozzillo, M Delvecchio, M Carella, E Grandone, P Palumbo, A Salina, ... BMC medical genetics 15 (1), 1-7, 2014 | 76 | 2014 |
Metformin restores the mitochondrial network and reverses mitochondrial dysfunction in Down syndrome cells A Izzo, M Nitti, N Mollo, S Paladino, C Procaccini, D Faicchia, G Calì, ... Human molecular genetics 26 (6), 1056-1069, 2017 | 68 | 2017 |
Mitochondrial dysfunction in down syndrome: molecular mechanisms and therapeutic targets A Izzo, N Mollo, M Nitti, S Paladino, G Calì, R Genesio, F Bonfiglio, ... Molecular Medicine 24 (1), 1-8, 2018 | 61 | 2018 |
Prenatal BACs‐on‐BeadsTM: the prospective experience of five prenatal diagnosis laboratories F Vialard, G Simoni, DM Gomes, A Abourra, SD Toffol, F Bru, ... Prenatal Diagnosis 32 (4), 329-335, 2012 | 49 | 2012 |
Immunoglobulin heavy‐chain fluorescence in situ hybridization‐chromogenic in situ hybridization DNA probe split signal in the clonality assessment of lymphoproliferative … P Zeppa, LV Sosa Fernandez, I Cozzolino, V Ronga, R Genesio, ... Cancer cytopathology 120 (6), 390-400, 2012 | 33 | 2012 |
Lithium chloride induces mesenchymal‑to‑epithelial reverting transition in primary colon cancer cell cultures V Costabile, F Duraturo, P Delrio, D Rega, U Pace, R Liccardo, GB Rossi, ... International journal of oncology 46 (5), 1913-1923, 2015 | 32 | 2015 |
Clinical description of a patient carrying the smallest reported deletion involving 10p14 region D Melis, R Genesio, P Boemio, E Del Giudice, G Cappuccio, A Mormile, ... American Journal of Medical Genetics Part A 158 (4), 832-835, 2012 | 27 | 2012 |
A case of 14q11. 2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf–Hirschhorn syndrome G Terrone, G Cappuccio, R Genesio, A Esposito, V Fiorentino, M Riccitelli, ... American Journal of Medical Genetics Part A 164 (1), 190-193, 2014 | 26 | 2014 |
Genetic and molecular analysis of a new unbalanced X; 18 rearrangement: localization of the diminished ovarian reserve disease locus in the distal Xq POF1 region F Fusco, M Paciolla, E Chen, X Li, R Genesio, A Conti, J Jones, L Poeta, ... Human reproduction 26 (11), 3186-3196, 2011 | 25 | 2011 |
New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants G Cappuccio, F Vitiello, A Casertano, P Fontana, R Genesio, D Bruzzese, ... Italian journal of pediatrics 42 (1), 1-11, 2016 | 24 | 2016 |
Inverted duplication of 15q with terminal deletion in a multiple malformed newborn with intrauterine growth failure and lethal phenotype G Rita, DB Daniele, C Anna, B Annamaria, DM Pasqua, DC Pasquale, ... American Journal of Medical Genetics Part A 128 (4), 422-428, 2004 | 22 | 2004 |
Partial cerebellar hypoplasia in a patient with Prader‐Willi syndrome L Titomanlio, D De Brasi, A Romano, R Genesio, AA Diano, ... Acta Paediatrica 95 (7), 861-863, 2006 | 21 | 2006 |
Loeys–Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene P Fontana, R Genesio, A Casertano, G Cappuccio, A Mormile, L Nitsch, ... Gene 538 (1), 69-73, 2014 | 20 | 2014 |
Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22 D Melis, R Genesio, G Cappuccio, V MariaGinocchio, RD Casa, G Menna, ... American Journal of Medical Genetics Part A 155 (7), 1697-1705, 2011 | 20 | 2011 |
Overexpression of chromosome 21 miRNAs may affect mitochondrial function in the hearts of Down syndrome fetuses A Izzo, R Manco, T Cristofaro, F Bonfiglio, R Cicatiello, N Mollo, ... International journal of genomics 2017, 2017 | 19 | 2017 |
Cytogenetic evaluation of isochromosome 17q in posterior fossa tumors of children and correlation with clinical outcome in medulloblastoma C DeChiara, A Borghese, A Fiorillo, R Genesio, A Conti, R D’Amore, ... Child’s Nervous System 18 (8), 380-384, 2002 | 17 | 2002 |
Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly VM Ginocchio, D De Brasi, R Genesio, R Ciccone, S Gimelli, F Fimiani, ... European journal of medical genetics 51 (6), 658-665, 2008 | 15 | 2008 |