Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes AC Lionel, K Tammimies, AK Vaags, JA Rosenfeld, JW Ahn, D Merico, ... Human molecular genetics 23 (10), 2752-2768, 2014 | 180 | 2014 |
Results from the International Consensus Conference on Myo-inositol and d-chiro-inositol in Obstetrics and Gynecology: the link between metabolic syndrome and PCOS F Facchinetti, M Bizzarri, S Benvenga, R D’Anna, A Lanzone, C Soulage, ... European Journal of Obstetrics & Gynecology and Reproductive Biology 195, 72-76, 2015 | 172 | 2015 |
A deletion map of the human Yq11 region: implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis B Bardoni, O Zuffardi, S Guioli, A Ballabio, P Simi, P Cavalli, MG Grimoldi, ... Genomics 11 (2), 443-451, 1991 | 147 | 1991 |
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification MT Parsons, E Tudini, H Li, E Hahnen, B Wappenschmidt, L Feliubadaló, ... Human mutation 40 (9), 1557-1578, 2019 | 131 | 2019 |
Inositols: from established knowledge to novel approaches S Dinicola, V Unfer, F Facchinetti, CO Soulage, ND Greene, M Bizzarri, ... International Journal of Molecular Sciences 22 (19), 10575, 2021 | 122 | 2021 |
Results from the International Consensus Conference on myo-inositol and D-chiro-inositol in Obstetrics and Gynecology–assisted reproduction technology A Bevilacqua, G Carlomagno, S Gerli, M Montanino Oliva, P Devroey, ... Gynecological Endocrinology 31 (6), 441-446, 2015 | 105 | 2015 |
Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011 A Novelli, FR Grati, L Ballarati, L Bernardini, D Bizzoco, L Camurri, ... Ultrasound in obstetrics & gynecology 39 (4), 384-388, 2012 | 85 | 2012 |
Inositol and folate resistant neural tube defects P Cavalli, AJ Copp Journal of medical genetics 39 (2), e5-e5, 2002 | 73 | 2002 |
Constitutional trisomy 8 as first mutation in multistep carcinogenesis: clinical, cytogenetic, and molecular data on three cases L Seghezzi, E Maserati, A Minelli, C Dellavecchia, P Addis, F Locatelli, ... Genes, Chromosomes and Cancer 17 (2), 94-101, 1996 | 72 | 1996 |
Effects of inositol supplementation in a cohort of mothers at risk of producing an NTD pregnancy P Cavalli, G Tonni, E Grosso, C Poggiani Birth Defects Research Part A: Clinical and Molecular Teratology 91 (11 …, 2011 | 62 | 2011 |
Inositol supplementation in pregnancies at risk of apparently folate‐resistant NTDs P Cavalli, S Tedoldi, B Riboli Birth Defects Research Part A: Clinical and Molecular Teratology 82 (7), 540-542, 2008 | 43 | 2008 |
Breakthroughs in the use of inositols for assisted reproductive treatment (ART) F Facchinetti, MSB Espinola, D Dewailly, AC Ozay, N Prapas, ... Trends in Endocrinology & Metabolism 31 (8), 570-579, 2020 | 37 | 2020 |
Prevention of Neural Tube Defects and proper folate periconceptional supplementation P Cavalli Journal of Prenatal Medicine 2 (4), 40, 2008 | 36 | 2008 |
Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International … SM Nielsen, DM Eccles, IL Romero, F Al-Mulla, J Balmaña, M Biancolella, ... JCO precision oncology 2, 1-42, 2018 | 32 | 2018 |
Myoinositol: the bridge (PONTI) to reach a healthy pregnancy P Cavalli, E Ronda International Journal of Endocrinology 2017 (1), 5846286, 2017 | 28 | 2017 |
Myo-inositol soft gel capsules may prevent the risk of coffee-induced neural tube defects S De Grazia, G Carlomagno, V Unfer, P Cavalli Expert Opinion on Drug Delivery 9 (9), 1033-1039, 2012 | 28 | 2012 |
Performance of BOADICEA and BRCAPRO genetic models and of empirical criteria based on cancer family history for predicting BRCA mutation carrier probabilities: a retrospective … L Varesco, V Viassolo, A Viel, V Gismondi, P Radice, M Montagna, ... The Breast 22 (6), 1130-1135, 2013 | 25 | 2013 |
An update on the use of inositols in preventing gestational diabetes mellitus (GDM) and neural tube defects (NTDs) F Facchinetti, P Cavalli, AJ Copp, R D’Anna, E Kandaraki, NDE Greene, ... Expert opinion on drug metabolism & toxicology 16 (12), 1187-1198, 2020 | 23 | 2020 |
False-Negative Results in Down's Syndrome Screening [letter] P Cavalli | 23* | 2011 |
False-negative results in Down's syndrome screening. P Cavalli Lancet 347 (9006), 965, 1996 | 23 | 1996 |