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Interstitial 2q24.2q24.3 Microdeletion: Two New Cases with Similar Clinical Features with the Exception of Profound Deafness.
Tassano E, Uccella S, Ronchetto P, Martinheira Da Silva JS, Viaggi S, Mancardi M, Ramenghi L, Murri A, Biondi M, Gimelli G, Morerio C, Malacarne M, Coviello D. Tassano E, et al. Among authors: gimelli g. Cytogenet Genome Res. 2022;162(3):132-139. doi: 10.1159/000525181. Epub 2022 Jul 27. Cytogenet Genome Res. 2022. PMID: 35896065
1p31.1 microdeletion including only NEGR1 gene in two patients.
Tassano E, Uccella S, Giacomini T, Fiorio P, Tavella E, Malacarne M, Gimelli G, Coviello D, Ronchetto P. Tassano E, et al. Among authors: gimelli g. Eur J Med Genet. 2020 Jun;63(6):103919. doi: 10.1016/j.ejmg.2020.103919. Epub 2020 Mar 21. Eur J Med Genet. 2020. PMID: 32209393
A rare 3q13.31 microdeletion including GAP43 and LSAMP genes.
Gimelli S, Leoni M, Di Rocco M, Caridi G, Porta S, Cuoco C, Gimelli G, Tassano E. Gimelli S, et al. Among authors: gimelli g. Mol Cytogenet. 2013 Nov 26;6(1):52. doi: 10.1186/1755-8166-6-52. Mol Cytogenet. 2013. PMID: 24279697 Free PMC article.
156 results