A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients MC Rosatelli, A Meloni, A Meloni, M Devoto, A Cao, HS Scott, P Peterson, ... Human genetics 103, 428-434, 1998 | 295 | 1998 |
Screening for thalassemia: a model of success A Cao, MC Rosatelli, G Monni, R Galanello Obstetrics and Gynecology Clinics 29 (2), 305-328, 2002 | 189 | 2002 |
Autoimmune polyendocrine syndrome type 1: an extensive longitudinal study in Sardinian patients A Meloni, N Willcox, A Meager, M Atzeni, ASB Wolff, ES Husebye, ... The Journal of Clinical Endocrinology & Metabolism 97 (4), 1114-1124, 2012 | 175 | 2012 |
8 Prenatal diagnosis and screening of the haemoglobinopathies A Cao, R Galanello, MC Rosatelli Bailliere's clinical haematology 11 (1), 215-238, 1998 | 174 | 1998 |
Molecular diagnosis and carrier screening for β thalassemia A Cao, L Saba, R Galanello, MC Rosatelli Jama 278 (15), 1273-1277, 1997 | 137 | 1997 |
Molecular characterization of beta-thalassemia in the Sardinian population. MC Rosatelli, A Dozy, V Faa, A Meloni, R Sardu, L Saba, YW Kan, A Cao American journal of human genetics 50 (2), 422, 1992 | 132 | 1992 |
Clinical experience of management of thalassemia: the Sardinian experience A Cao, R Galanello, MC Rosatelli, F Argiolu, S De Virgiliis Seminars in hematology 33, 66-75, 1996 | 105 | 1996 |
Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome E Marcocci, V Uliana, M Bruttini, R Artuso, MC Silengo, M Zerial, ... Nephrology Dialysis Transplantation 24 (5), 1464-1471, 2009 | 104 | 2009 |
Genotype-phenotype correlations in β-thalassemias A Cao, R Galanello, MC Rosatelli Blood reviews 8 (1), 1-12, 1994 | 103 | 1994 |
Molecular screening and fetal diagnosis of β-thalassemia in the Italian population M Cristina Rosatelli, T Tuveri, M Teresa Scalas, G Battista Leoni, R Sardu, ... Human genetics 89, 585-589, 1992 | 101 | 1992 |
Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy A Meloni, R Perniola, V Faà, E Corvaglia, A Cao, MC Rosatelli The Journal of Clinical Endocrinology & Metabolism 87 (2), 841-846, 2002 | 99 | 2002 |
Control of β‐thalassaemia by carrier screening, genetic counselling and prenatal diagnosis: the Sardinian experience A Cao, M Cristina Rosatelli, R Galanello Ciba Foundation Symposium 197‐Variation in the Human Genome: Variation in …, 2007 | 96 | 2007 |
9 Screening and prenatal diagnosis of the haemoglobinopathies A Cao, MC Rosatelli Baillière's clinical haematology 6 (1), 263-286, 1993 | 96 | 1993 |
Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification O Scarciolla, L Stuppia, MV De Angelis, S Murru, C Palka, R Giuliani, ... Neurogenetics 7, 269-276, 2006 | 91 | 2006 |
Chorionic villus sampling and acceptance rate of prenatal diagnosis A Cao, P Cossu, G Monni, MC Rosatelli Prenatal diagnosis 7 (7), 531-533, 1987 | 60 | 1987 |
A specific cystic fibrosis mutation (T338I) associated with the phenotype of isolated hypotonic dehydration GB Leoni, S Pitzalis, R Podda, M Zanda, M Silvetti, L Caocci, A Cao, ... The Journal of pediatrics 127 (2), 281-283, 1995 | 58 | 1995 |
β-thalassemia microelectronic chip: a fast and accurate method for mutation detection B Foglieni, L Cremonesi, M Travi, A Ravani, A Giambona, MC Rosatelli, ... Clinical Chemistry 50 (1), 73-79, 2004 | 55 | 2004 |
Thalassemia intermedia resulting from a mild beta-thalassemia mutation MC Rosatelli, L Oggiano, G Battista Leoni, T Tuveri, A Di Tucci, MT Scalas, ... | 55 | 1989 |
The prenatal diagnosis of thalassaemia A Cao, M Pirastu, C Rosatelli British journal of haematology 63 (2), 215-220, 1986 | 52 | 1986 |
Antenatal diagnosis of beta-thalassemia in Sardinia. A Cao, MC Rosatelli, GB Leoni, T Tuveri, MT Scalas, G Monni, G Olla, ... Annals of the New York Academy of Sciences 612, 215-225, 1990 | 51 | 1990 |