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39 results

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Page 1
Double somatic mosaicism in Cornelia de Lange syndrome.
Pezzani L, Pezzoli L, Rosina E, Scatigno A, Cereda A, Lucca C, Bellini M, Marchetti D, Maino M, Mangili G, Selicorni A, Iascone M. Pezzani L, et al. Am J Med Genet A. 2024 May;194(5):e63512. doi: 10.1002/ajmg.a.63512. Epub 2023 Dec 22. Am J Med Genet A. 2024. PMID: 38135466
Atypical presentation of pediatric BRAF RASopathy with acute encephalopathy.
Pezzani L, Marchetti D, Cereda A, Caffi LG, Manara O, Mamoli D, Pezzoli L, Lincesso AR, Perego L, Pellicioli I, Bonanomi E, Salvoni L, Iascone M. Pezzani L, et al. Am J Med Genet A. 2018 Dec;176(12):2867-2871. doi: 10.1002/ajmg.a.40635. Epub 2018 Nov 21. Am J Med Genet A. 2018. PMID: 30462361
Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?
Pezzani L, Pezzoli L, Pansa A, Facchinetti B, Marchetti D, Scatigno A, Lincesso AR, Perego L, Pingue M, Pellicioli I, Migliazza L, Mangili G, Galletti L, Giussani U, Bonanomi E, Cereda A, Iascone M. Pezzani L, et al. Mol Genet Genomic Med. 2020 Mar;8(3):e1064. doi: 10.1002/mgg3.1064. Epub 2020 Jan 14. Mol Genet Genomic Med. 2020. PMID: 31943948 Free PMC article.
Aortic dilation in Sotos syndrome: An underestimated feature?
Pezzani L, Mauri L, Selicorni A, Peron A, Grasso M, Codazzi AC, Rimini A, Marchisio PG, Coviello D, Colli A, Milani D. Pezzani L, et al. Am J Med Genet A. 2020 Jul;182(7):1819-1823. doi: 10.1002/ajmg.a.61591. Epub 2020 Apr 14. Am J Med Genet A. 2020. PMID: 32286744 No abstract available.
Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management.
Pezzoli L, Pezzani L, Bonanomi E, Marrone C, Scatigno A, Cereda A, Bedeschi MF, Selicorni A, Gasperini S, Bini P, Maitz S, Maccioni C, Pedron C, Colombo L, Marchetti D, Bellini M, Lincesso AR, Perego L, Pingue M, Della Malva N, Mangili G, Ferrazzi P, Iascone M. Pezzoli L, et al. Among authors: pezzani l. J Cardiovasc Dev Dis. 2021 Dec 21;9(1):2. doi: 10.3390/jcdd9010002. J Cardiovasc Dev Dis. 2021. PMID: 35050212 Free PMC article.
SBIDDS Syndrome: A New Spoke of the Epigenetic Machinery Wheel.
Aleo S, Pezzani L, Milani D, Pezzoli L, Marchisio P, Iascone M. Aleo S, et al. Among authors: pezzani l. Mol Syndromol. 2023 Jan;13(6):543-550. doi: 10.1159/000524844. Epub 2022 Jun 7. Mol Syndromol. 2023. PMID: 36660030 Free PMC article.
Rock around DYRK1A: Ethnic diversity, clinical challenges.
Moroni A, Pezzani L, Alfei E, Scatigno A, Cereda A, Marzaroli M, Guuva C, Gabbiadini S, Pezzoli L, Marchetti D, Spaccini L, Iascone M. Moroni A, et al. Among authors: pezzani l. Am J Med Genet A. 2023 May;191(5):1459-1464. doi: 10.1002/ajmg.a.63140. Epub 2023 Feb 11. Am J Med Genet A. 2023. PMID: 36772973
39 results