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(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome.
Mussa A, Russo S, De Crescenzo A, Freschi A, Calzari L, Maitz S, Macchiaiolo M, Molinatto C, Baldassarre G, Mariani M, Tarani L, Bedeschi MF, Milani D, Melis D, Bartuli A, Cubellis MV, Selicorni A, Cirillo Silengo M, Larizza L, Riccio A, Ferrero GB. Mussa A, et al. Among authors: freschi a. Eur J Hum Genet. 2016 Feb;24(2):183-90. doi: 10.1038/ejhg.2015.88. Epub 2015 Apr 22. Eur J Hum Genet. 2016. PMID: 25898929 Free PMC article.
Fetal growth patterns in Beckwith-Wiedemann syndrome.
Mussa A, Russo S, de Crescenzo A, Freschi A, Calzari L, Maitz S, Macchiaiolo M, Molinatto C, Baldassarre G, Mariani M, Tarani L, Bedeschi MF, Milani D, Melis D, Bartuli A, Cubellis MV, Selicorni A, Silengo MC, Larizza L, Riccio A, Ferrero GB. Mussa A, et al. Among authors: freschi a. Clin Genet. 2016 Jul;90(1):21-7. doi: 10.1111/cge.12759. Epub 2016 Mar 15. Clin Genet. 2016. PMID: 26857110
Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus.
Valente FM, Sparago A, Freschi A, Hill-Harfe K, Maas SM, Frints SGM, Alders M, Pignata L, Franzese M, Angelini C, Carli D, Mussa A, Gazzin A, Gabbarini F, Acurzio B, Ferrero GB, Bliek J, Williams CA, Riccio A, Cerrato F. Valente FM, et al. Among authors: freschi a. Genet Med. 2019 Aug;21(8):1808-1820. doi: 10.1038/s41436-018-0416-7. Epub 2019 Jan 12. Genet Med. 2019. PMID: 30635621 Free PMC article.
Humanized H19/Igf2 locus reveals diverged imprinting mechanism between mouse and human and reflects Silver-Russell syndrome phenotypes.
Hur SK, Freschi A, Ideraabdullah F, Thorvaldsen JL, Luense LJ, Weller AH, Berger SL, Cerrato F, Riccio A, Bartolomei MS. Hur SK, et al. Among authors: freschi a. Proc Natl Acad Sci U S A. 2016 Sep 27;113(39):10938-43. doi: 10.1073/pnas.1603066113. Epub 2016 Sep 12. Proc Natl Acad Sci U S A. 2016. PMID: 27621468 Free PMC article.
Loss of Snord116 impacts lateral hypothalamus, sleep, and food-related behaviors.
Pace M, Falappa M, Freschi A, Balzani E, Berteotti C, Lo Martire V, Kaveh F, Hovig E, Zoccoli G, Amici R, Cerri M, Urbanucci A, Tucci V. Pace M, et al. Among authors: freschi a. JCI Insight. 2020 Jun 18;5(12):e137495. doi: 10.1172/jci.insight.137495. JCI Insight. 2020. PMID: 32365348 Free PMC article.
48 results