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Report of a novel ATP7A mutation causing distal motor neuropathy.
Gualandi F, Sette E, Fortunato F, Bigoni S, De Grandis D, Scotton C, Selvatici R, Neri M, Incensi A, Liguori R, Storbeck M, Karakaya M, Simioni V, Squarzoni S, Timmerman V, Wirth B, Donadio V, Tugnoli V, Ferlini A. Gualandi F, et al. Among authors: bigoni s. Neuromuscul Disord. 2019 Oct;29(10):776-785. doi: 10.1016/j.nmd.2019.08.008. Epub 2019 Aug 23. Neuromuscul Disord. 2019. PMID: 31558336
Genetic counseling for women referred for advanced maternal age: a telegenetic approach.
Gualandi F, Bigoni S, Melchiorri L, Buldrini B, Balboni A, Neri M, Armaroli A, Parmeggiani G, Italyankina E, Mauro A, Ravani A, Fini S, Caracciolo S, Ferlini A. Gualandi F, et al. Among authors: bigoni s. Genet Med. 2014 Oct;16(10):795. doi: 10.1038/gim.2014.103. Genet Med. 2014. PMID: 25290261 Free PMC article. No abstract available.
A Family with γ-Thalassemia and High Hb A2 Levels.
Parmeggiani G, Gualandi F, Selvatici R, Rimessi P, Bigoni S, Taddei Masieri M, Dolcini B, Venturoli A, Cappabianca MP, Ferlini A, Ravani A. Parmeggiani G, et al. Among authors: bigoni s. Hemoglobin. 2016 Jun;40(3):187-90. doi: 10.3109/03630269.2016.1148613. Hemoglobin. 2016. PMID: 27117568
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family.
Bigoni S, Neri M, Scotton C, Farina R, Sabatelli P, Jiang C, Zhang J, Falzarano MS, Rossi R, Ognibene D, Selvatici R, Gualandi F, Bosshardt D, Perri P, Campa C, Brancati F, Salvatore M, De Stefano MC, Taruscio D, Trombelli L, Fang M, Ferlini A. Bigoni S, et al. Front Genet. 2019 Jan 21;9:723. doi: 10.3389/fgene.2018.00723. eCollection 2018. Front Genet. 2019. PMID: 30740127 Free PMC article.
75 results