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146 results

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Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions.
Verscaj CP, Velez-Bartolomei F, Bodle E, Chan K, Lyons MJ, Thorson W, Tan WH, Rodig N, Graham JM Jr, Peron A, Quintero-Rivera F, Zackai EH, Thomas MA, Stevens CA, Adam MP, Bird LM, Jones MC, Matalon DR. Verscaj CP, et al. Among authors: peron a. Prenat Diagn. 2024 Feb;44(2):237-246. doi: 10.1002/pd.6424. Epub 2023 Aug 26. Prenat Diagn. 2024. PMID: 37632214 Review.
Characterization of intellectual disability and autism comorbidity through gene panel sequencing.
Aspromonte MC, Bellini M, Gasparini A, Carraro M, Bettella E, Polli R, Cesca F, Bigoni S, Boni S, Carlet O, Negrin S, Mammi I, Milani D, Peron A, Sartori S, Toldo I, Soli F, Turolla L, Stanzial F, Benedicenti F, Marino-Buslje C, Tosatto SCE, Murgia A, Leonardi E. Aspromonte MC, et al. Among authors: peron a. Hum Mutat. 2020 Jun;41(6):1183. doi: 10.1002/humu.24012. Epub 2020 Mar 20. Hum Mutat. 2020. PMID: 32400065 No abstract available.
Medical care of adolescents and women with Rett syndrome: an Italian study.
Vignoli A, La Briola F, Peron A, Turner K, Savini M, Cogliati F, Russo S, Canevini MP. Vignoli A, et al. Among authors: peron a. Am J Med Genet A. 2012 Jan;158A(1):13-8. doi: 10.1002/ajmg.a.34367. Epub 2011 Dec 2. Am J Med Genet A. 2012. PMID: 22139899 Free article.
Glioblastoma multiforme in a child with tuberous sclerosis complex.
Vignoli A, Lesma E, Alfano RM, Peron A, Scornavacca GF, Massimino M, Schiavello E, Ancona S, Cerati M, Bulfamante G, Gorio A, Canevini MP. Vignoli A, et al. Among authors: peron a. Am J Med Genet A. 2015 Oct;167A(10):2388-93. doi: 10.1002/ajmg.a.37158. Epub 2015 May 6. Am J Med Genet A. 2015. PMID: 25946256
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. Among authors: peron a. 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.
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy.
Carter LB, Battaglia A, Cherry A, Manning MA, Ruzhnikov MR, Bird LM, Dowsett L, Graham JM Jr, Alkuraya FS, Hashem M, Dinulos MB, Vallee S, Adam MP, Glass I, Beck AE, Stevens CA, Zackai E, McDougall C, Keena B, Peron A, Vignoli A, Seaver LH, Slavin TP, Hudgins L. Carter LB, et al. Among authors: peron a. Am J Med Genet A. 2019 Aug;179(8):1543-1546. doi: 10.1002/ajmg.a.61266. Epub 2019 Jun 17. Am J Med Genet A. 2019. PMID: 31207089 Free PMC article. Review.
146 results