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Genotype-phenotype relationships in ataxia-telangiectasia and variants.
Gilad S, Chessa L, Khosravi R, Russell P, Galanty Y, Piane M, Gatti RA, Jorgensen TJ, Shiloh Y, Bar-Shira A. Gilad S, et al. Among authors: piane m. Am J Hum Genet. 1998 Mar;62(3):551-61. doi: 10.1086/301755. Am J Hum Genet. 1998. PMID: 9497252 Free PMC article.
Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
Sciacchitano S, De Francesco GP, Piane M, Savio C, De Vitis C, Petrucci S, Salvati V, Goldoni M, Fabiani M, Mesoraca A, Micolonghi C, Torres B, Piccinetti A, Pippi R, Mancini R. Sciacchitano S, et al. Among authors: piane m. Diagnostics (Basel). 2022 Nov 30;12(12):2997. doi: 10.3390/diagnostics12122997. Diagnostics (Basel). 2022. PMID: 36553004 Free PMC article.
A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy.
Micolonghi C, Fabiani M, Pagannone E, Savio C, Ricci M, Caroselli S, Gambioli V, Musumeci B, Germani A, Tini G, Autore C, Pizzuti A, Visco V, Rubattu S, Petrucci S, Piane M. Micolonghi C, et al. Among authors: piane m. Curr Issues Mol Biol. 2023 Mar 15;45(3):2422-2430. doi: 10.3390/cimb45030157. Curr Issues Mol Biol. 2023. PMID: 36975527 Free PMC article.
Long QTc in hypertrophic cardiomyopathy: A consequence of structural myocardial damage or a distinct genetic disease?
Cava F, Micolonghi C, Musumeci MB, Petrucci S, Savio C, Fabiani M, Tini G, Germani A, Libi F, Rossi C, Visco V, Pizzuti A, Volpe M, Autore C, Rubattu S, Piane M. Cava F, et al. Among authors: piane m. Front Cardiovasc Med. 2023 Apr 5;10:1112759. doi: 10.3389/fcvm.2023.1112759. eCollection 2023. Front Cardiovasc Med. 2023. PMID: 37089884 Free PMC article.
Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study.
Criscuolo C, Chessa L, Di Giandomenico S, Mancini P, Saccà F, Grieco GS, Piane M, Barbieri F, De Michele G, Banfi S, Pierelli F, Rizzuto N, Santorelli FM, Gallosti L, Filla A, Casali C. Criscuolo C, et al. Among authors: piane m. Neurology. 2006 Apr 25;66(8):1207-10. doi: 10.1212/01.wnl.0000208402.10512.4a. Neurology. 2006. PMID: 16636238
51 results