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Page 1
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort.
Scott A, Di Giosaffatte N, Pinna V, Daniele P, Corno S, D'Ambrosio V, Andreucci E, Marozza A, Sirchia F, Tortora G, Mangiameli D, Di Marco C, Romagnoli M, Donati I, Zonta A, Grosso E, Naretto VG, Mastromoro G, Versacci P, Pantaleoni F, Radio FC, Mazza T, Damante G, Papi L, Mattina T, Giancotti A, Pizzuti A, Laberge AM, Tartaglia M, Delrue MA, De Luca A. Scott A, et al. Among authors: damante g. Genet Med. 2021 Jun;23(6):1116-1124. doi: 10.1038/s41436-020-01093-7. Epub 2021 Feb 10. Genet Med. 2021. PMID: 33568805 Free article.
Molecular defects in thyroid dysgenesis.
Mio C, Grani G, Durante C, Damante G. Mio C, et al. Among authors: damante g. Clin Genet. 2020 Jan;97(1):222-231. doi: 10.1111/cge.13627. Epub 2019 Aug 27. Clin Genet. 2020. PMID: 31432505 Review.
SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia.
Mauri L, Franzoni A, Scarcello M, Sala S, Garavelli L, Modugno A, Grammatico P, Patrosso MC, Piozzi E, Del Longo A, Gesu GP, Manfredini E, Primignani P, Damante G, Penco S. Mauri L, et al. Among authors: damante g. Eur J Med Genet. 2015 Feb;58(2):66-70. doi: 10.1016/j.ejmg.2014.12.005. Epub 2014 Dec 23. Eur J Med Genet. 2015. PMID: 25542770
Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy.
Cini G, Mezzavilla M, Della Puppa L, Cupelli E, Fornasin A, D'Elia AV, Dolcetti R, Damante G, Bertok S, Miolo G, Maestro R, de Paoli P, Amoroso A, Viel A. Cini G, et al. Among authors: damante g. BMC Med Genet. 2016 Feb 6;17:11. doi: 10.1186/s12881-016-0274-6. BMC Med Genet. 2016. PMID: 26852130 Free PMC article.
301 results