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Prenatal identification of a pathogenic maternal FGFR1 variant in two consecutive pregnancies with fetal forebrain malformations.
Graziani L, Nuovo S, Pisaneschi E, Carriero ML, Baghernajad Salehi L, Nardone AM, Manganaro L, Novelli A, D'Apice MR, Mappa I, Novelli G. Graziani L, et al. Among authors: novelli g, novelli a. J Matern Fetal Neonatal Med. 2024 Dec;37(1):2344718. doi: 10.1080/14767058.2024.2344718. Epub 2024 Apr 28. J Matern Fetal Neonatal Med. 2024. PMID: 38679587 Free article.
Case report: A new de novo 6q21q22.1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature review.
Minotti C, Graziani L, Sallicandro E, Digilio MC, Falasca R, Alesi V, Novelli G, Dentici ML, Loddo S, Novelli A. Minotti C, et al. Among authors: novelli g, novelli a. Front Genet. 2024 Feb 6;14:1315291. doi: 10.3389/fgene.2023.1315291. eCollection 2023. Front Genet. 2024. PMID: 38380230 Free PMC article.
Clinical and functional characterization of COL2A1 p.Gly444Ser variant: From a fetal phenotype to a previously undisclosed postnatal phenotype.
Marchionni E, D'Apice MR, Lupo V, Lattanzi G, Mattioli E, Lisignoli G, Gabusi E, Pepe G, Helmer Citterich M, Campione E, Nardone AM, Spitalieri P, Pucci N, Cocciadiferro D, Picchi E, Garaci F, Novelli A, Novelli G. Marchionni E, et al. Among authors: novelli g, novelli a. Bone Rep. 2023 Nov 27;19:101728. doi: 10.1016/j.bonr.2023.101728. eCollection 2023 Dec. Bone Rep. 2023. PMID: 38076483 Free PMC article.
Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations.
Ferese R, Scala S, Suppa A, Campopiano R, Asci F, Zampogna A, Chiaravalloti MA, Griguoli A, Storto M, Pardo AD, Giardina E, Zampatti S, Fornai F, Novelli G, Fanelli M, Zecca C, Logroscino G, Centonze D, Gambardella S. Ferese R, et al. Among authors: novelli g. Front Neurol. 2023 Dec 7;14:1296924. doi: 10.3389/fneur.2023.1296924. eCollection 2023. Front Neurol. 2023. PMID: 38145127 Free PMC article.
Expression profile of HERVs and inflammatory mediators detected in nasal mucosa as a predictive biomarker of COVID-19 severity.
Petrone V, Fanelli M, Giudice M, Toschi N, Conti A, Maracchioni C, Iannetta M, Resta C, Cipriani C, Miele MT, Amati F, Andreoni M, Sarmati L, Rogliani P, Novelli G, Garaci E, Rasi G, Sinibaldi-Vallebona P, Minutolo A, Matteucci C, Balestrieri E, Grelli S. Petrone V, et al. Among authors: novelli g. Front Microbiol. 2023 May 22;14:1155624. doi: 10.3389/fmicb.2023.1155624. eCollection 2023. Front Microbiol. 2023. PMID: 37283924 Free PMC article.
1,195 results