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Page 1
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.
Mastromoro G, Santoro C, Motta M, Sorrentino U, Daniele P, Peduto C, Petrizzelli F, Tripodi M, Pinna V, Zanobio M, Rotundo G, Bellacchio E, Lepri F, Farina A, D'Asdia MC, Piceci-Sparascio F, Biagini T, Petracca A, Castori M, Melis D, Accadia M, Traficante G, Tarani L, Fontana P, Sirchia F, Paparella R, Currò A, Benedicenti F, Scala I, Dentici ML, Leoni C, Trevisan V, Cecconi A, Giustini S, Pizzuti A, Salviati L, Novelli A, Zampino G, Zenker M, Genuardi M, Digilio MC, Papi L, Perrotta S, Nigro V, Castellanos E, Mazza T, Trevisson E, Tartaglia M, Piluso G, De Luca A. Mastromoro G, et al. Among authors: pizzuti a. Genet Med. 2024 Nov;26(11):101241. doi: 10.1016/j.gim.2024.101241. Epub 2024 Aug 10. Genet Med. 2024. PMID: 39140257
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome.
Piceci-Sparascio F, Micale L, Torres B, Guida V, Consoli F, Torrente I, Onori A, Frustaci E, D'Asdia MC, Petrizzelli F, Bernardini L, Mancini C, Soli F, Cocciadiferro D, Guadagnolo D, Mastromoro G, Putotto C, Fontana F, Brunetti-Pierri N, Novelli A, Pizzuti A, Marino B, Digilio MC, Mazza T, Dallapiccola B, Ruiz-Perez VL, Tartaglia M, Castori M, De Luca A. Piceci-Sparascio F, et al. Among authors: pizzuti a. Eur J Hum Genet. 2023 Apr;31(4):479-484. doi: 10.1038/s41431-022-01276-7. Epub 2023 Jan 4. Eur J Hum Genet. 2023. PMID: 36599940 Free PMC article.
A Pain in the Neck: Lessons Learnt from Genetic Testing in Fetuses Detected with Nuchal Fluid Collections, Increased Nuchal Translucency versus Cystic Hygroma-Systematic Review of the Literature, Meta-Analysis and Case Series.
Mastromoro G, Guadagnolo D, Khaleghi Hashemian N, Bernardini L, Giancotti A, Piacentini G, De Luca A, Pizzuti A. Mastromoro G, et al. Among authors: pizzuti a. Diagnostics (Basel). 2022 Dec 23;13(1):48. doi: 10.3390/diagnostics13010048. Diagnostics (Basel). 2022. PMID: 36611340 Free PMC article. Review.
Prenatal CFAP53-related laterality defect: case report and review of the literature.
Mastromoro G, Guadagnolo D, Novelli A, Torres B, Piane M, Magliozzi M, Bernardini L, Ventriglia F, Pizzuti A, Petrucci S. Mastromoro G, et al. Among authors: pizzuti a. J Matern Fetal Neonatal Med. 2023 Dec;36(1):2201653. doi: 10.1080/14767058.2023.2201653. J Matern Fetal Neonatal Med. 2023. PMID: 37041101 Free article. Review.
Fetal First-trimester Cystic Hygroma as the Prenatal Presenting Feature of ASCC1-Related Spinal Muscular Atrophy with Bone Fractures 2.
Guadagnolo D, Mastromoro G, Hashemian NK, Orlando V, Lepri FR, D'Alberti E, Giancotti A, Novelli A, Pizzuti A. Guadagnolo D, et al. Among authors: pizzuti a. J Obstet Gynaecol Can. 2023 Aug;45(8):558-559. doi: 10.1016/j.jogc.2023.05.004. Epub 2023 May 17. J Obstet Gynaecol Can. 2023. PMID: 37201580 No abstract available.
Small RNAs and tooth development: The role of microRNAs in tooth agenesis and impaction.
Giovannetti A, Guarnieri R, Petrizzelli F, Lazzari S, Padalino G, Traversa A, Napoli A, Di Giorgio R, Pizzuti A, Parisi C, Mazza T, Barbato E, Caputo V. Giovannetti A, et al. Among authors: pizzuti a. J Dent Sci. 2024 Oct;19(4):2150-2156. doi: 10.1016/j.jds.2024.03.013. Epub 2024 Mar 22. J Dent Sci. 2024. PMID: 39347023 Free PMC article.
294 results