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A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.
Russo S, Calzari L, Mussa A, Mainini E, Cassina M, Di Candia S, Clementi M, Guzzetti S, Tabano S, Miozzo M, Sirchia S, Finelli P, Prontera P, Maitz S, Sorge G, Calcagno A, Maghnie M, Divizia MT, Melis D, Manfredini E, Ferrero GB, Pecile V, Larizza L. Russo S, et al. Among authors: guzzetti s. Clin Epigenetics. 2016 Mar 1;8:23. doi: 10.1186/s13148-016-0183-8. eCollection 2016. Clin Epigenetics. 2016. PMID: 26933465 Free PMC article.
Erratum to: A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.
Russo S, Calzari L, Mussa A, Mainini E, Cassina M, Di Candia S, Clementi M, Guzzetti S, Tabano S, Miozzo M, Sirchia S, Finelli P, Prontera P, Maitz S, Sorge G, Calcagno A, Maghnie M, Divizia MT, Melis D, Manfredini E, Ferrero GB, Pecile V, Larizza L. Russo S, et al. Among authors: guzzetti s. Clin Epigenetics. 2016 Apr 21;8:40. doi: 10.1186/s13148-016-0206-5. eCollection 2016. Clin Epigenetics. 2016. PMID: 27110297 Free PMC article. No abstract available.
Molecular Etiology Disclosed by Array CGH in Patients With Silver-Russell Syndrome or Similar Phenotypes.
Crippa M, Bonati MT, Calzari L, Picinelli C, Gervasini C, Sironi A, Bestetti I, Guzzetti S, Bellone S, Selicorni A, Mussa A, Riccio A, Ferrero GB, Russo S, Larizza L, Finelli P. Crippa M, et al. Among authors: guzzetti s. Front Genet. 2019 Oct 15;10:955. doi: 10.3389/fgene.2019.00955. eCollection 2019. Front Genet. 2019. PMID: 31749829 Free PMC article.
Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases.
Tannorella P, Minervino D, Guzzetti S, Vimercati A, Calzari L, Patti G, Maghnie M, Allegri AEM, Milani D, Scuvera G, Mariani M, Modena P, Selicorni A, Larizza L, Russo S. Tannorella P, et al. Among authors: guzzetti s. Genes (Basel). 2021 Apr 17;12(4):588. doi: 10.3390/genes12040588. Genes (Basel). 2021. PMID: 33920573 Free PMC article.
Case report: atypical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum.
Vimercati A, Tannorella P, Orlandini E, Calzari L, Moro M, Guzzetti S, Selicorni A, Crippa M, Larizza L, Bonati MT, Russo S. Vimercati A, et al. Among authors: guzzetti s. Front Genet. 2023 Jul 17;14:1198821. doi: 10.3389/fgene.2023.1198821. eCollection 2023. Front Genet. 2023. PMID: 37529781 Free PMC article.
Distinguishing genetic alterations versus (epi)mutations in Silver-Russell syndrome and focus on the IGF1R gene.
Vimercati A, Tannorella P, Guzzetti S, Calzari L, Gentilini D, Manfredini E, Gori G, Gaudino R, Antona V, Piccione M, Daolio C, Auricchio R, Sirchia F, Minelli A, Rossi E, Bellini M, Biasucci G, Raucci AR, Pozzobon G, Patti G, Napoli F, Larizza L, Maghnie M, Russo S. Vimercati A, et al. Among authors: guzzetti s. J Clin Endocrinol Metab. 2024 Oct 16:dgae730. doi: 10.1210/clinem/dgae730. Online ahead of print. J Clin Endocrinol Metab. 2024. PMID: 39412159
133 results