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165 results

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Page 1
Unexpected phenotype in a frameshift mutation of PTCH1.
Beltrami B, Prada E, Tolva G, Scuvera G, Silipigni R, Graziani D, Bulfamante G, Gervasini C, Marchisio P, Milani D. Beltrami B, et al. Among authors: bulfamante g. Mol Genet Genomic Med. 2020 Jan;8(1):e987. doi: 10.1002/mgg3.987. Epub 2019 Oct 2. Mol Genet Genomic Med. 2020. PMID: 31578813 Free PMC article.
CD10 and CD34 as markers in vascular malformations with PIK3CA and TEK mutations.
Moneghini L, Tosi D, Graziani D, Caretti A, Colletti G, Baraldini V, Cattaneo E, Spaccini L, Zocca A, Bulfamante GP. Moneghini L, et al. Among authors: bulfamante gp. Hum Pathol. 2020 May;99:98-106. doi: 10.1016/j.humpath.2020.04.001. Epub 2020 Apr 6. Hum Pathol. 2020. PMID: 32272124 Free article.
Prenatal detection of 5q14.3 duplication including MEF2C and brain phenotype.
Cesaretti C, Spaccini L, Righini A, Parazzini C, Conte G, Crosti F, Redaelli S, Bulfamante G, Avagliano L, Rustico M. Cesaretti C, et al. Among authors: bulfamante g. Am J Med Genet A. 2016 May;170A(5):1352-7. doi: 10.1002/ajmg.a.37594. Epub 2016 Feb 10. Am J Med Genet A. 2016. PMID: 26864752
Growth rate of different basal cell carcinoma subtypes.
Betti R, Moneghini L, Mapelli ET, Bulfamante G, Cerri A. Betti R, et al. Among authors: bulfamante g. Eur J Dermatol. 2017 Oct 1;27(5):544-545. doi: 10.1684/ejd.2017.3073. Eur J Dermatol. 2017. PMID: 29084641 Free article. No abstract available.
Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2.
Peron A, Vignoli A, Briola F, Morenghi E, Tansini L, Alfano RM, Bulfamante G, Terraneo S, Ghelma F, Banderali G, Viskochil DH, Carey JC, Canevini MP; TSC Study Group of the San Paolo Hospital of Milan. Peron A, et al. Among authors: bulfamante g. Eur J Med Genet. 2018 Jul;61(7):403-410. doi: 10.1016/j.ejmg.2018.02.005. Epub 2018 Feb 9. Eur J Med Genet. 2018. PMID: 29432982
Impact of Mutation Density and Heterogeneity on Papillary Thyroid Cancer Clinical Features and Remission Probability.
Colombo C, Muzza M, Proverbio MC, Tosi D, Soranna D, Pesenti C, Rossi S, Cirello V, De Leo S, Fusco N, Miozzo M, Bulfamante G, Vicentini L, Ferrero S, Zambon A, Tabano S, Fugazzola L. Colombo C, et al. Among authors: bulfamante g. Thyroid. 2019 Feb;29(2):237-251. doi: 10.1089/thy.2018.0339. Epub 2019 Jan 16. Thyroid. 2019. PMID: 30501571 Free article.
Glioblastoma multiforme in a child with tuberous sclerosis complex.
Vignoli A, Lesma E, Alfano RM, Peron A, Scornavacca GF, Massimino M, Schiavello E, Ancona S, Cerati M, Bulfamante G, Gorio A, Canevini MP. Vignoli A, et al. Among authors: bulfamante g. Am J Med Genet A. 2015 Oct;167A(10):2388-93. doi: 10.1002/ajmg.a.37158. Epub 2015 May 6. Am J Med Genet A. 2015. PMID: 25946256
165 results