prof.ssa Monica Rosa Miozzo
Monica Rosa Miozzo
GENETICA MEDICA (Ufficio)
Presentazione:
Direttore Struttura Complessa di Genetica Medica
Professore Ordinario in Genetica Medica - Dip. Scienze della Salute - Università degli Studi di Milano
Pubblicazioni scientifiche:
Scopus (ID: 7006895458: H index: 42, n. tot citaz. 5676)
Articoli 2021-2022
- Elli, F.M., Mattinzoli, D., Lucca, et al. Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly. Journal of Bone and Mineral Research, 2022, 37(3), pp. 465–474
- Nicolì, V., Tabano, S.M., Colapietro, P et al. Female Preponderance in Myasthenia Gravis. Genes, 2022, 13, 696
- Moresco, G., Costanza, J., Santaniello, C et al. A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report. Italian Journal of Pediatrics, 2021, 47, 81.
- Fontana, L., Tabano, S., et al. Clinical and molecular diagnosis of beckwith-wiedemann syndrome with single-or multi-locus imprinting disturbance International Journal of Molecular Sciences, 2021;22(7):3445
- Niemi, M.E.K., Karjalainen, J., Liao, R.G., et al. Mapping the human genetic architecture of COVID-19
Nature, 2021, 600(7889), pp. 472–477
-Marfia G, Navone S, Guarnaccia L, Campanella R, Mondoni M, Locatelli M, Barassi A, Fontana L, Palumbo F, Garzia E, Ciniglio Appiani G, Chiumello D, Miozzo M, Centanni S, Riboni L. Decreased serum level of sphingosine-1-phosphate: a novel predictor of clinical severity in COVID-19. EMBO Mol Med. 2021;13(1):e13424.
-Gerli AG, Miozzo M, Centanni S, Fontana L, Chiumello D, Sotgiu G, LA Vecchia C. Forecasting the burden of COVID-19 hospitalized patients during the SARS-CoV-2 second wave in Lombardy, Italy. Panminerva Med. 2021;63(1):86-87.
-Fontana L, Tabano S, Maitz S, Colapietro P, Garzia E, Gerli AG, Sirchia SM, Miozzo M. Clinical and Molecular Diagnosis of Beckwith-Wiedemann Syndrome with Single- or Multi-Locus Imprinting Disturbance. Int J Mol Sci. 2021 Mar 26;22(7):3445.
- Rondinone O, Murgia A, Costanza J, Tabano S, Camanni M, Corsaro L, Fontana L, Colapietro P, Calzari L, Motta S, Santaniello C, Radaelli T, Ferrazzi E, Bosari S, Gentilini D, Sirchia SM, Miozzo M. Extensive Placental Methylation Profiling in Normal Pregnancies. Int J Mol Sci. 2021;22(4):2136.
- Moresco G, Costanza J, Santaniello C, Rondinone O, Grilli F, Prada E, Orcesi S, Coro I, Pichiecchio A, Marchisio P, Miozzo M, Fontana L, Milani D. A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report. Ital J Pediatr. 2021;47(1):81.
prof. Monica Rosa Miozzo
Direttore Struttura Complessa di Genetica Medica
Professore Ordinario in Genetica Medica - Dip. Scienze della Salute - Università degli Studi di Milano
Pubblicazioni scientifiche:
Scopus (ID: 7006895458: H index: 42, n. tot citaz. 5676)
Articoli 2021-2022
- Elli, F.M., Mattinzoli, D., Lucca, et al. Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly. Journal of Bone and Mineral Research, 2022, 37(3), pp. 465–474
- Nicolì, V., Tabano, S.M., Colapietro, P et al. Female Preponderance in Myasthenia Gravis. Genes, 2022, 13, 696
- Moresco, G., Costanza, J., Santaniello, C et al. A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report. Italian Journal of Pediatrics, 2021, 47, 81.
- Fontana, L., Tabano, S., et al. Clinical and molecular diagnosis of beckwith-wiedemann syndrome with single-or multi-locus imprinting disturbance International Journal of Molecular Sciences, 2021;22(7):3445
- Niemi, M.E.K., Karjalainen, J., Liao, R.G., et al. Mapping the human genetic architecture of COVID-19
Nature, 2021, 600(7889), pp. 472–477
-Marfia G, Navone S, Guarnaccia L, Campanella R, Mondoni M, Locatelli M, Barassi A, Fontana L, Palumbo F, Garzia E, Ciniglio Appiani G, Chiumello D, Miozzo M, Centanni S, Riboni L. Decreased serum level of sphingosine-1-phosphate: a novel predictor of clinical severity in COVID-19. EMBO Mol Med. 2021;13(1):e13424.
-Gerli AG, Miozzo M, Centanni S, Fontana L, Chiumello D, Sotgiu G, LA Vecchia C. Forecasting the burden of COVID-19 hospitalized patients during the SARS-CoV-2 second wave in Lombardy, Italy. Panminerva Med. 2021;63(1):86-87.
-Fontana L, Tabano S, Maitz S, Colapietro P, Garzia E, Gerli AG, Sirchia SM, Miozzo M. Clinical and Molecular Diagnosis of Beckwith-Wiedemann Syndrome with Single- or Multi-Locus Imprinting Disturbance. Int J Mol Sci. 2021 Mar 26;22(7):3445.
- Rondinone O, Murgia A, Costanza J, Tabano S, Camanni M, Corsaro L, Fontana L, Colapietro P, Calzari L, Motta S, Santaniello C, Radaelli T, Ferrazzi E, Bosari S, Gentilini D, Sirchia SM, Miozzo M. Extensive Placental Methylation Profiling in Normal Pregnancies. Int J Mol Sci. 2021;22(4):2136.
- Moresco G, Costanza J, Santaniello C, Rondinone O, Grilli F, Prada E, Orcesi S, Coro I, Pichiecchio A, Marchisio P, Miozzo M, Fontana L, Milani D. A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report. Ital J Pediatr. 2021;47(1):81.
