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Prenatal overgrowth and polydramnios: Would you think about Noonan syndrome?
Beltrami B, Cerasani J, Consales A, Villa R, Resta N, Loconte DC, Boito S, Caschera L, Bassi L, Colombo L, Iascone M, Bedeschi MF. Beltrami B, et al. Among authors: iascone m. Clin Case Rep. 2022 Aug 22;10(8):e6256. doi: 10.1002/ccr3.6256. eCollection 2022 Aug. Clin Case Rep. 2022. PMID: 36017115 Free PMC article.
Phenotype delineation of ZNF462 related syndrome.
Kruszka P, Hu T, Hong S, Signer R, Cogné B, Isidor B, Mazzola SE, Giltay JC, van Gassen KLI, England EM, Pais L, Ockeloen CW, Sanchez-Lara PA, Kinning E, Adams DJ, Treat K, Torres-Martinez W, Bedeschi MF, Iascone M, Blaney S, Bell O, Tan TY, Delrue MA, Jurgens J, Barry BJ, Engle EC, Savage SK, Fleischer N, Martinez-Agosto JA, Boycott K, Zackai EH, Muenke M. Kruszka P, et al. Among authors: iascone m. Am J Med Genet A. 2019 Oct;179(10):2075-2082. doi: 10.1002/ajmg.a.61306. Epub 2019 Jul 30. Am J Med Genet A. 2019. PMID: 31361404 Free PMC article.
Familial Sleep Disorders in Unknown Genetic Syndrome.
Lelii M, Baggi E, Senatore L, Bedeschi MF, Dilena R, Iascone M, Gangi S, Marchisio P, Patria MF. Lelii M, et al. Among authors: iascone m. J Pediatr Genet. 2020 Jun;9(2):132-136. doi: 10.1055/s-0039-1698808. Epub 2019 Oct 21. J Pediatr Genet. 2020. PMID: 32341819 Free PMC article.
Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile.
Ciolfi A, Foroutan A, Capuano A, Pedace L, Travaglini L, Pizzi S, Andreani M, Miele E, Invernizzi F, Reale C, Panteghini C, Iascone M, Niceta M, Gavrilova RH, Schultz-Rogers L, Agolini E, Bedeschi MF, Prontera P, Garibaldi M, Galosi S, Leuzzi V, Soliveri P, Olson RJ, Zorzi GS, Garavaglia BM, Tartaglia M, Sadikovic B. Ciolfi A, et al. Among authors: iascone m. Clin Epigenetics. 2021 Aug 11;13(1):157. doi: 10.1186/s13148-021-01145-y. Clin Epigenetics. 2021. PMID: 34380541 Free PMC article.
Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management.
Pezzoli L, Pezzani L, Bonanomi E, Marrone C, Scatigno A, Cereda A, Bedeschi MF, Selicorni A, Gasperini S, Bini P, Maitz S, Maccioni C, Pedron C, Colombo L, Marchetti D, Bellini M, Lincesso AR, Perego L, Pingue M, Della Malva N, Mangili G, Ferrazzi P, Iascone M. Pezzoli L, et al. Among authors: iascone m. J Cardiovasc Dev Dis. 2021 Dec 21;9(1):2. doi: 10.3390/jcdd9010002. J Cardiovasc Dev Dis. 2021. PMID: 35050212 Free PMC article.
Short stature in PRMT7 Mutations: first evidence of response to growth hormone treatment.
Rodari G, Villa R, Porro M, Gangi S, Iascone M, Elli F, Giacchetti F, Profka E, Collini V, Dall'Antonia A, Arosio M, Mantovani G, Bedeschi MF, Giavoli C. Rodari G, et al. Among authors: iascone m. Eur J Hum Genet. 2023 Feb;31(2):195-201. doi: 10.1038/s41431-022-01220-9. Epub 2022 Nov 9. Eur J Hum Genet. 2023. PMID: 36348013 Free PMC article.
174 results