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7p22.1 microduplication syndrome: Refinement of the critical region.
Ronzoni L, Grassi FS, Pezzani L, Tucci A, Baccarin M, Esposito S, Milani D. Ronzoni L, et al. Among authors: pezzani l. Eur J Med Genet. 2017 Feb;60(2):114-117. doi: 10.1016/j.ejmg.2016.11.005. Epub 2016 Nov 16. Eur J Med Genet. 2017. PMID: 27866048
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.
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: pezzani 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.
A long way to syndromic short stature.
Gaudioso F, Meossi C, Pezzani L, Grilli F, Silipigni R, Russo S, Masciadri M, Vimercati A, Marchisio PG, Bedeschi MF, Milani D. Gaudioso F, et al. Among authors: pezzani l. Ital J Pediatr. 2024 Sep 27;50(1):192. doi: 10.1186/s13052-024-01737-3. Ital J Pediatr. 2024. PMID: 39334216 Free PMC article.
Syndromic obesity: clinical implications of a correct diagnosis.
Milani D, Cerutti M, Pezzani L, Maffei P, Milan G, Esposito S. Milani D, et al. Among authors: pezzani l. Ital J Pediatr. 2014 Apr 2;40(1):33. doi: 10.1186/1824-7288-40-33. Ital J Pediatr. 2014. PMID: 24690487 Free PMC article.
41 results