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Page 1
Hepatoblastoma in Rubinstein-Taybi Syndrome: A Case Report.
Milani D, Bonarrigo FA, Menni F, Spaccini L, Gervasini C, Esposito S. Milani D, et al. Among authors: spaccini l. 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.
Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.
Spena S, Milani D, Rusconi D, Negri G, Colapietro P, Elcioglu N, Bedeschi F, Pilotta A, Spaccini L, Ficcadenti A, Magnani C, Scarano G, Selicorni A, Larizza L, Gervasini C. Spena S, et al. Among authors: spaccini l. Clin Genet. 2015 Nov;88(5):431-40. doi: 10.1111/cge.12537. Epub 2014 Dec 9. Clin Genet. 2015. PMID: 25388907
Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.
Bestetti I, Crippa M, Sironi A, Tumiatti F, Masciadri M, Smeland MF, Naik S, Murch O, Bonati MT, Spano A, Cattaneo E, Mariani M, Gotta F, Crosti F, Cavalli P, Pantaleoni C, Natacci F, Bedeschi MF, Milani D, Maitz S, Selicorni A, Spaccini L, Peron A, Russo S, Larizza L, Low K, Finelli P. Bestetti I, et al. Among authors: spaccini l. Int J Mol Sci. 2022 May 25;23(11):5912. doi: 10.3390/ijms23115912. Int J Mol Sci. 2022. PMID: 35682590 Free PMC article.
Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective study.
Rosina E, Pezzani L, Apuril E, Pezzoli L, Marchetti D, Bellini M, Lucca C, Meossi C, Massimello M, Mariani M, Scatigno A, Cattaneo E, Colombo L, Maitz S, Cereda A, Milani D, Spaccini L, Bedeschi MF, Selicorni A, Iascone M. Rosina E, et al. Among authors: spaccini l. Mol Genet Genomic Med. 2024 Jan;12(1):e2316. doi: 10.1002/mgg3.2316. Epub 2023 Dec 2. Mol Genet Genomic Med. 2024. PMID: 38041506 Free PMC article.
Currarino syndrome: does the presence of a genetic anomaly correlate with a more severe phenotype? A multicentre study.
Costanzo S, Spaccini L, Pio L, Mattioli G, Virgone C, Dall'Igna P, Iacobelli B, Inserra A, Brisighelli G, Fagnani AM, Leva E, Giannotti G, Cheli M, Frumento P, Riccipetitoni G. Costanzo S, et al. Among authors: spaccini l. J Pediatr Surg. 2017 Oct;52(10):1591-1596. doi: 10.1016/j.jpedsurg.2017.06.012. Epub 2017 Jun 24. J Pediatr Surg. 2017. PMID: 28689883
71 results