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155 results

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Page 1
Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes.
Ambrosetti I, Bernardini L, Pollazzon M, Giuffrida MG, Guida V, Peluso F, Baroni MC, Polizzi V, Napoli M, Rosato S, Trimarchi G, Gelmini C, Caraffi SG, Wischmeijer A, Frattini D, Novelli A, Garavelli L. Ambrosetti I, et al. Among authors: rosato s. Genes (Basel). 2023 Jul 26;14(8):1526. doi: 10.3390/genes14081526. Genes (Basel). 2023. PMID: 37628577 Free PMC article. Review.
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum.
Contrò G, Micalizzi A, Giangiobbe S, Caraffi SG, Zuntini R, Rosato S, Pollazzon M, Terracciano A, Napoli M, Rizzi S, Salerno GG, Radio FC, Niceta M, Parrini E, Fusco C, Gargano G, Guerrini R, Tartaglia M, Novelli A, Zuffardi O, Garavelli L. Contrò G, et al. Among authors: rosato s. Genes (Basel). 2021 Aug 5;12(8):1208. doi: 10.3390/genes12081208. Genes (Basel). 2021. PMID: 34440382 Free PMC article.
Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.
Pollazzon M, Caraffi SG, Faccioli S, Rosato S, Fodstad H, Campos-Xavier B, Soncini E, Comitini G, Frattini D, Grimaldi T, Marinelli M, Martorana D, Percesepe A, Sassi S, Fusco C, Gargano G, Superti-Furga A, Garavelli L. Pollazzon M, et al. Among authors: rosato s. Genes (Basel). 2021 Dec 23;13(1):29. doi: 10.3390/genes13010029. Genes (Basel). 2021. PMID: 35052370 Free PMC article.
Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features.
Rosato S, Unger S, Campos-Xavier B, Caraffi SG, Beltrami L, Pollazzon M, Ivanovski I, Castori M, Bonasoni MP, Comitini G, Nikkels PGJ, Lindstrom K, Umandap C, Superti-Furga A, Garavelli L. Rosato S, et al. Genes (Basel). 2022 Jan 28;13(2):261. doi: 10.3390/genes13020261. Genes (Basel). 2022. PMID: 35205306 Free PMC article. Review.
Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: genetic homogeneity and nosological delineation.
Garavelli L, Wischmeijer A, Rosato S, Gelmini C, Reverberi S, Sassi S, Ferrari A, Mari F, Zabel B, Lausch E, Unger S, Superti-Furga A. Garavelli L, et al. Among authors: rosato s. Am J Med Genet A. 2011 Feb;155A(2):332-6. doi: 10.1002/ajmg.a.33793. Epub 2010 Dec 22. Am J Med Genet A. 2011. PMID: 21271649 No abstract available.
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding.
Maini I, Errichiello E, Caraffi SG, Rosato S, Bizzarri V, Pollazzon M, Trimarchi G, Contrò G, Cavirani B, Gelmini C, Napoli M, Moratti C, Pascarella R, Rizzi S, Fusco C, Zuffardi O, Garavelli L. Maini I, et al. Among authors: rosato s. Neurogenetics. 2021 Mar;22(1):19-25. doi: 10.1007/s10048-020-00625-2. Epub 2020 Aug 20. Neurogenetics. 2021. PMID: 32816121
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies.
Giangiobbe S, Caraffi SG, Ivanovski I, Maini I, Pollazzon M, Rosato S, Trimarchi G, Lauriello A, Marinelli M, Nicoli D, Baldo C, Laurie S, Flores-Daboub J, Provenzano A, Andreucci E, Peluso F, Rizzo R, Stewart H, Lachlan K, Bayat A, Napoli M, Carboni G, Baker J, Mendel A, Piatelli G, Pantaleoni C, Mattina T, Prontera P, Mendelsohn NJ, Giglio S, Zuffardi O, Garavelli L. Giangiobbe S, et al. Among authors: rosato s. Am J Med Genet A. 2020 Dec;182(12):2877-2886. doi: 10.1002/ajmg.a.61859. Epub 2020 Oct 11. Am J Med Genet A. 2020. PMID: 33043602
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: rosato 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
155 results