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577 results

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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: bernasconi s. 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
Alazami syndrome: the first case of papillary thyroid carcinoma.
Ivanovski I, Caraffi SG, Magnani E, Rosato S, Pollazzon M, Matalonga L, Piana S, Nicoli D, Baldo C, Bernasconi S, Frasoldati A, Zuffardi O, Garavelli L. Ivanovski I, et al. Among authors: bernasconi s. J Hum Genet. 2020 Jan;65(2):133-141. doi: 10.1038/s10038-019-0682-5. Epub 2019 Oct 28. J Hum Genet. 2020. PMID: 31656314
Mandibuloacral dysplasia type A in childhood.
Garavelli L, D'Apice MR, Rivieri F, Bertoli M, Wischmeijer A, Gelmini C, De Nigris V, Albertini E, Rosato S, Virdis R, Bacchini E, Dal Zotto R, Banchini G, Iughetti L, Bernasconi S, Superti-Furga A, Novelli G. Garavelli L, et al. Among authors: bernasconi s. Am J Med Genet A. 2009 Oct;149A(10):2258-64. doi: 10.1002/ajmg.a.33005. Am J Med Genet A. 2009. PMID: 19764019
Endocrine-Disrupting Chemicals in Human Fetal Growth.
Street ME, Bernasconi S. Street ME, et al. Among authors: bernasconi s. Int J Mol Sci. 2020 Feb 20;21(4):1430. doi: 10.3390/ijms21041430. Int J Mol Sci. 2020. PMID: 32093249 Free PMC article. Review.
Microplastics, environment and child health.
Street ME, Bernasconi S. Street ME, et al. Among authors: bernasconi s. Ital J Pediatr. 2021 Mar 25;47(1):75. doi: 10.1186/s13052-021-01034-3. Ital J Pediatr. 2021. PMID: 33766098 Free PMC article. No abstract available.
Multiple sulfatase deficiency with neonatal manifestation.
Garavelli L, Santoro L, Iori A, Gargano G, Braibanti S, Pedori S, Melli N, Frattini D, Zampini L, Galeazzi T, Padella L, Pepe S, Wischmeijer A, Rosato S, Ivanovski I, Iughetti L, Gelmini C, Bernasconi S, Superti-Furga A, Ballabio A, Gabrielli O. Garavelli L, et al. Among authors: bernasconi s. Ital J Pediatr. 2014 Dec 17;40:86. doi: 10.1186/s13052-014-0086-2. Ital J Pediatr. 2014. PMID: 25516103 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: bernasconi s. 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.
577 results