| Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy B Pandit, A Sarkozy, LA Pennacchio, C Carta, K Oishi, S Martinelli, ... Nature genetics 39 (8), 1007-1012, 2007 | 790 | 2007 |
| Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair V Cordeddu, E Di Schiavi, LA Pennacchio, A Ma'ayan, A Sarkozy, ... Nature genetics 41 (9), 1022-1026, 2009 | 461 | 2009 |
| A restricted spectrum of NRAS mutations causes Noonan syndrome IC Cirstea, K Kutsche, R Dvorsky, L Gremer, C Carta, D Horn, AE Roberts, ... Nature genetics 42 (1), 27-29, 2010 | 357 | 2010 |
| Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum A Sarkozy, C Carta, S Moretti, G Zampino, MC Digilio, F Pantaleoni, ... Human mutation 30 (4), 695-702, 2009 | 351 | 2009 |
| Congenital heart disease in patients with Turner’s syndrome L Mazzanti, E Cacciari, Italian Study Group for Turner Syndrome The Journal of pediatrics 133 (5), 688-692, 1998 | 322 | 1998 |
| Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations JJ Johnston, I Olivos-Glander, C Killoran, E Elson, JT Turner, KF Peters, ... The American Journal of Human Genetics 76 (4), 609-622, 2005 | 307 | 2005 |
| Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype S Martinelli, A De Luca, E Stellacci, C Rossi, S Checquolo, F Lepri, ... The American Journal of Human Genetics 87 (2), 250-257, 2010 | 281 | 2010 |
| Prevalence and clinical picture of celiac disease in Turner syndrome M Bonamico, AM Pasquino, P Mariani, HM Danesi, F Culasso, L Mazzanti, ... The Journal of Clinical Endocrinology & Metabolism 87 (12), 5495-5498, 2002 | 270 | 2002 |
| Role of nitric oxide concentrations on human sperm motility G Balercia, S Moretti, A Vignini, M Magagnini, F Mantero, M Boscaro, ... Journal of Andrology 25 (2), 245-249, 2004 | 203 | 2004 |
| On the nosology and pathogenesis of Wolf–Hirschhorn syndrome: genotype–phenotype correlation analysis of 80 patients and literature review M Zollino, M Murdolo, G Marangi, V Pecile, C Galasso, L Mazzanti, G Neri American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2008 | 201 | 2008 |
| Biochemical modifications of human whole saliva induced by pregnancy E Salvolini, R Di Giorgio, A Curatola, L Mazzanti, G Fratto BJOG: An International Journal of Obstetrics & Gynaecology 105 (6), 656-660, 1998 | 193 | 1998 |
| Oxidative stress and erythrocyte membrane alterations in children with autism: correlation with clinical features A Ghezzo, P Visconti, PM Abruzzo, A Bolotta, C Ferreri, G Gobbi, ... PLoS One 8 (6), e66418, 2013 | 184 | 2013 |
| COVID‐19 and immunological dysregulation: can autoantibodies be useful? S Pascolini, A Vannini, G Deleonardi, M Ciordinik, A Sensoli, I Carletti, ... Clinical and translational science 14 (2), 502-508, 2021 | 168 | 2021 |
| Gonadoblastoma in Turner syndrome and Y‐chromosome‐derived material L Mazzanti, A Cicognani, L Baldazzi, R Bergamaschi, E Scarano, ... American Journal of Medical Genetics Part A 135 (2), 150-154, 2005 | 144 | 2005 |
| Altered Cellular Ca2+ and Na+ Transport in Diabetes Mellitus L Mazzanti, RA Rabini, E Faloia, P Fumelli, E Bertoli, RD Pirro Diabetes 39 (7), 850-854, 1990 | 144 | 1990 |
| SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype–phenotype correlations F Lepri, A De Luca, L Stella, C Rossi, G Baldassarre, F Pantaleoni, ... Human mutation 32 (7), 760-772, 2011 | 140 | 2011 |
| Decreased nitric oxide levels and increased calcium content in platelets of hypertensive patients A Camilletti, N Moretti, G Giacchetti, E Faloia, D Martarelli, F Mantero, ... American Journal of Hypertension 14 (4), 382-386, 2001 | 137 | 2001 |
| Reactive oxygen species plasmatic levels in ischemic stroke L Nanetti, R Taffi, A Vignini, C Moroni, F Raffaelli, T Bacchetti, M Silvestrini, ... Molecular and cellular biochemistry 303, 19-25, 2007 | 135 | 2007 |
| Glycated low density lipoproteins modify platelet properties: a compositional and functional study G Ferretti, RA Rabini, T Bacchetti, A Vignini, E Salvolini, F Ravaglia, ... The Journal of Clinical Endocrinology & Metabolism 87 (5), 2180-2184, 2002 | 125 | 2002 |
| Frequency, clinical and laboratory features of thyroiditis in girls with Turner's syndrome G Radetti, L Mazzanti, C Paganini, S Bernasconi, G Russo, F Rigon, ... Acta paediatrica 84 (8), 909-912, 1995 | 121 | 1995 |
gianna ferrettiUniversità Politecnica delle Marche, Dip. Scienze Cliniche Specialistiche ed Odontostomatologiche在 univpm.it 的电子邮件经过验证
