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272 results

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Page 1
Oropharyngeal teratoma, oral duplication, cervical diplomyelia and anencephaly in a 22-week fetus: A review of the craniofacial teratoma syndrome.
Morlino S, Castori M, Servadei F, Laino L, Silvestri E; Pediatric Craniofacial Malformation (PECRAM) Study Group; Grammatico P. Morlino S, et al. Among authors: castori m. Birth Defects Res A Clin Mol Teratol. 2015 Jun;103(6):554-66. doi: 10.1002/bdra.23327. Epub 2014 Oct 31. Birth Defects Res A Clin Mol Teratol. 2015. PMID: 25360518 Review.
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: castori m. 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: castori m. 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.
Adapting to Adulthood: A Review of Transition Strategies for Osteogenesis Imperfecta.
Celli L, Garrelfs MR, Sakkers RJB, Elting MW, Celli M, Bökenkamp A, Smits C, Goderie T, Smit JM, Schwarte LA, Schober PR, Lubbers WD, Visser MC, Kievit AJ, van Royen BJ, Gilijamse M, Schreuder WH, Rustemeyer T, Pramana A, Hendrickx JJ, Dahele MR, Saeed P, Moll AC, Curro-Tafili KR, Ghyczy EAE, Dickhoff C, de Leeuw RA, Bonjer JH, Nieuwenhuijzen JA, Konings TC, Engelsman AF, Eeckhout AM, van den Aardweg JG, Thoral PJ, Noske DP, Dubois L, Teunissen BP, Semler O, Wekre LL, Maasalu K, Märtson A, Sangiorgi L, Versacci P, Riminucci M, Grammatico P, Zambrano A, Martini L, Castori M, Botman E, Westerheim I, Zhytnik L, Micha D, Eekhoff EMW. Celli L, et al. Among authors: castori m. Calcif Tissue Int. 2024 Dec;115(6):960-975. doi: 10.1007/s00223-024-01305-1. Epub 2024 Nov 13. Calcif Tissue Int. 2024. PMID: 39535563 Free PMC article. Review.
A multi-step approach to overcome challenges in the management of head and neck lymphatic malformations, and response to treatment.
Trevisan V, De Corso E, Viscogliosi G, Onesimo R, Cina A, Panfili M, Perri L, Agazzi C, Giorgio V, Rigante D, Vento G, Papacci P, Paradiso FV, Silvaroli S, Nanni L, Resta N, Castori M, Galli J, Paludetti G, Zampino G, Leoni C. Trevisan V, et al. Among authors: castori m. Orphanet J Rare Dis. 2024 Jul 23;19(1):276. doi: 10.1186/s13023-024-03200-2. Orphanet J Rare Dis. 2024. PMID: 39044220 Free PMC article.
Phenotypic Expansion of Autosomal Dominant LZTR1-Related Disorders with Special Emphasis on Adult-Onset Features.
Uliana V, Ambrosini E, Taiani A, Cesarini S, Cannizzaro IR, Negrotti A, Serra W, Quintavalle G, Micale L, Fusco C, Castori M, Martorana D, Bortesi B, Belli L, Percesepe A, Pisani F, Barili V. Uliana V, et al. Among authors: castori m. Genes (Basel). 2024 Jul 13;15(7):916. doi: 10.3390/genes15070916. Genes (Basel). 2024. PMID: 39062695 Free PMC article. Review.
Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia.
Cinque L, Pugliese F, Salcuni AS, Trombetta D, Battista C, Biagini T, Augello B, Nardella G, Conti F, Corbetta S, Fischetto R, Foiadelli T, Gaudio A, Giannini C, Grosso E, Guabello G, Massuras S, Palermo A, Politano L, Pigliaru F, Ruggeri RM, Scarano E, Vicchio P, Cannavò S, Celli M, Petrizzelli F, Mastroianno M, Castori M, Scillitani A, Guarnieri V. Cinque L, et al. Among authors: castori m. Front Endocrinol (Lausanne). 2023 Aug 1;14:1205977. doi: 10.3389/fendo.2023.1205977. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37600704 Free PMC article.
272 results