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51 results

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Page 1
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.
Garavelli L, Ivanovski I, Caraffi SG, Santodirocco D, Pollazzon M, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Baldo C, Bayat A, Belligni E, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, Devriendt K, Dinulos MB, Djuric O, Epifanio R, Faravelli F, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Lacombe D, Maggi M, Malbora B, Mammi I, Moutton S, Møller R, Muschke P, Napoli M, Pantaleoni C, Pascarella R, Pellicciari A, Poch-Olive ML, Raviglione F, Rivieri F, Russo C, Savasta S, Scarano G, Selicorni A, Silengo M, Sorge G, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zollino M, Dobyns WB, Paciorkowski AR. Garavelli L, et al. Among authors: pollazzon m. Genet Med. 2017 Jun;19(6):691-700. doi: 10.1038/gim.2016.176. Epub 2016 Nov 10. Genet Med. 2017. PMID: 27831545 Free PMC article.
RIN2 syndrome: Expanding the clinical phenotype.
Rosato S, Syx D, Ivanovski I, Pollazzon M, Santodirocco D, De Marco L, Beltrami M, Callewaert B, Garavelli L, Malfait F. Rosato S, et al. Among authors: pollazzon m. Am J Med Genet A. 2016 Sep;170(9):2408-15. doi: 10.1002/ajmg.a.37789. Epub 2016 Jun 8. Am J Med Genet A. 2016. PMID: 27277385 Review.
Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature Review.
Maini I, Ivanovski I, Iodice A, Rosato S, Pollazzon M, Mussini M, Belligni EF, Coutton C, Marinelli M, Barbieri V, Napoli M, Pascarella R, Sartori C, Madia F, Fusco C, Franchi F, Street ME, Garavelli L. Maini I, et al. Among authors: pollazzon m. Mol Syndromol. 2016 Nov;7(6):337-343. doi: 10.1159/000450718. Epub 2016 Oct 14. Mol Syndromol. 2016. PMID: 27920637 Free PMC article.
Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies.
Maini I, Ivanovski I, Djuric O, Caraffi SG, Errichiello E, Marinelli M, Franchi F, Bizzarri V, Rosato S, Pollazzon M, Gelmini C, Malacarne M, Fusco C, Gargano G, Bernasconi S, Zuffardi O, Garavelli L. Maini I, et al. Among authors: pollazzon m. Ital J Pediatr. 2018 Mar 9;44(1):34. doi: 10.1186/s13052-018-0467-z. Ital J Pediatr. 2018. PMID: 29523172 Free PMC article.
Noonan syndrome-like disorder with loose anagen hair: a second case with neuroblastoma.
Garavelli L, Cordeddu V, Errico S, Bertolini P, Street ME, Rosato S, Pollazzon M, Wischmeijer A, Ivanovski I, Daniele P, Bacchini E, Lombardi AA, Izzi G, Biasucci G, Del Rossi C, Corradi D, Cazzaniga G, Dominici C, Rossi C, De Luca A, Bernasconi S, Riccardi R, Legius E, Tartaglia M. Garavelli L, et al. Among authors: pollazzon m. Am J Med Genet A. 2015 Aug;167A(8):1902-7. doi: 10.1002/ajmg.a.37082. Epub 2015 Apr 5. Am J Med Genet A. 2015. PMID: 25846317
A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus.
Maini I, Farnetti E, Caraffi SG, Ivanovski I, De Bernardi ML, Gelmini C, Pollazzon M, Rosato S, Laurie S, Matalonga L, Baldo C, Garavelli L. Maini I, et al. Among authors: pollazzon m. Neuropediatrics. 2018 Jun;49(3):222-224. doi: 10.1055/s-0038-1641722. Epub 2018 Apr 11. Neuropediatrics. 2018. PMID: 29642246 No abstract available.
Vertebral Bone Density Abnormalities in Fetal Ultrasound: A Distinctive Clinical Sign of Spondylocarpotarsal Synostosis Syndrome MYH3-Related.
Blasi I, Pollazzon M, Caraffi SG, Zuntini R, Comitini G, Bonasoni MP, Daolio J, Unger S, Aguzzoli L, Superti-Furga A, Garavelli L. Blasi I, et al. Among authors: pollazzon m. Australas J Ultrasound Med. 2025 Jun 29;28(3):e70015. doi: 10.1002/ajum.70015. eCollection 2025 Aug. Australas J Ultrasound Med. 2025. PMID: 40600006 Free PMC article.
51 results