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Page 1
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
Levy MA, McConkey H, Kerkhof J, Barat-Houari M, Bargiacchi S, Biamino E, Bralo MP, Cappuccio G, Ciolfi A, Clarke A, DuPont BR, Elting MW, Faivre L, Fee T, Fletcher RS, Cherik F, Foroutan A, Friez MJ, Gervasini C, Haghshenas S, Hilton BA, Jenkins Z, Kaur S, Lewis S, Louie RJ, Maitz S, Milani D, Morgan AT, Oegema R, Østergaard E, Pallares NR, Piccione M, Pizzi S, Plomp AS, Poulton C, Reilly J, Relator R, Rius R, Robertson S, Rooney K, Rousseau J, Santen GWE, Santos-Simarro F, Schijns J, Squeo GM, St John M, Thauvin-Robinet C, Traficante G, van der Sluijs PJ, Vergano SA, Vos N, Walden KK, Azmanov D, Balci T, Banka S, Gecz J, Henneman P, Lee JA, Mannens MMAM, Roscioli T, Siu V, Amor DJ, Baynam G, Bend EG, Boycott K, Brunetti-Pierri N, Campeau PM, Christodoulou J, Dyment D, Esber N, Fahrner JA, Fleming MD, Genevieve D, Kerrnohan KD, McNeill A, Menke LA, Merla G, Prontera P, Rockman-Greenberg C, Schwartz C, Skinner SA, Stevenson RE, Vitobello A, Tartaglia M, Alders M, Tedder ML, Sadikovic B. Levy MA, et al. Among authors: milani d. HGG Adv. 2021 Dec 3;3(1):100075. doi: 10.1016/j.xhgg.2021.100075. eCollection 2022 Jan 13. HGG Adv. 2021. PMID: 35047860 Free PMC article.
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire.
Rusconi D, Negri G, Colapietro P, Picinelli C, Milani D, Spena S, Magnani C, Silengo MC, Sorasio L, Curtisova V, Cavaliere ML, Prontera P, Stangoni G, Ferrero GB, Biamino E, Fischetto R, Piccione M, Gasparini P, Salviati L, Selicorni A, Finelli P, Larizza L, Gervasini C. Rusconi D, et al. Among authors: milani d. Hum Genet. 2015 Jun;134(6):613-26. doi: 10.1007/s00439-015-1542-9. Epub 2015 Mar 25. Hum Genet. 2015. PMID: 25805166 Free article. Clinical Trial.
Hepatoblastoma in Rubinstein-Taybi Syndrome: A Case Report.
Milani D, Bonarrigo FA, Menni F, Spaccini L, Gervasini C, Esposito S. Milani D, et al. Pediatr Blood Cancer. 2016 Mar;63(3):572-3. doi: 10.1002/pbc.25806. Epub 2015 Oct 20. Pediatr Blood Cancer. 2016. PMID: 26485669 No abstract available.
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome.
Spena S, Gervasini C, Milani D. Spena S, et al. Among authors: milani d. J Pediatr Genet. 2015 Sep;4(3):177-86. doi: 10.1055/s-0035-1564571. Epub 2015 Sep 28. J Pediatr Genet. 2015. PMID: 27617129 Free PMC article. Review.
Perthes disease: A new finding in Floating-Harbor syndrome.
Milani D, Scuvera G, Gatti M, Tolva G, Bonarrigo F, Esposito S, Gervasini C. Milani D, et al. Am J Med Genet A. 2018 Mar;176(3):703-706. doi: 10.1002/ajmg.a.38605. Epub 2018 Jan 31. Am J Med Genet A. 2018. PMID: 29383823
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.
Negri G, Magini P, Milani D, Crippa M, Biamino E, Piccione M, Sotgiu S, Perrìa C, Vitiello G, Frontali M, Boni A, Di Fede E, Gandini MC, Colombo EA, Bamshad MJ, Nickerson DA, Smith JD, Loddo I, Finelli P, Seri M, Pippucci T, Larizza L, Gervasini C. Negri G, et al. Among authors: milani d. Hum Genet. 2019 Mar;138(3):257-269. doi: 10.1007/s00439-019-01985-y. Epub 2019 Feb 26. Hum Genet. 2019. PMID: 30806792 Free PMC article.
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder.
Squeo GM, Augello B, Massa V, Milani D, Colombo EA, Mazza T, Castellana S, Piccione M, Maitz S, Petracca A, Prontera P, Accadia M, Della Monica M, Di Giacomo MC, Melis D, Selicorni A, Giglio S, Fischetto R, Di Fede E, Malerba N, Russo M, Castori M, Gervasini C, Merla G. Squeo GM, et al. Among authors: milani d. J Med Genet. 2020 Nov;57(11):760-768. doi: 10.1136/jmedgenet-2019-106724. Epub 2020 Mar 13. J Med Genet. 2020. PMID: 32170002
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes.
Di Fede E, Massa V, Augello B, Squeo G, Scarano E, Perri AM, Fischetto R, Causio FA, Zampino G, Piccione M, Curridori E, Mazza T, Castellana S, Larizza L, Ghelma F, Colombo EA, Gandini MC, Castori M, Merla G, Milani D, Gervasini C. Di Fede E, et al. Among authors: milani d. Eur J Hum Genet. 2021 Jan;29(1):88-98. doi: 10.1038/s41431-020-0679-8. Epub 2020 Jul 8. Eur J Hum Genet. 2021. PMID: 32641752 Free PMC article.
345 results