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GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations.
Genovesi ML, Guadagnolo D, Marchionni E, Giovannetti A, Traversa A, Panzironi N, Bernardo S, Palumbo P, Petrizzelli F, Carella M, Mazza T, Pizzuti A, Caputo V. Genovesi ML, et al. Among authors: bernardo s. Bone. 2021 Mar;144:115803. doi: 10.1016/j.bone.2020.115803. Epub 2021 Jan 12. Bone. 2021. PMID: 33333243
Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritance.
Traversa A, Marchionni E, Giovannetti A, Genovesi ML, Panzironi N, Margiotti K, Napoli G, Piceci Sparascio F, De Luca A, Petrizzelli F, Carella M, Cardona F, Bernardo S, Manganaro L, Mazza T, Pizzuti A, Caputo V. Traversa A, et al. Among authors: bernardo s. Mol Genet Genomic Med. 2020 Aug;8(8):e1336. doi: 10.1002/mgg3.1336. Epub 2020 Jun 10. Mol Genet Genomic Med. 2020. PMID: 32519823 Free PMC article.
Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy-Walker malformation.
Traversa A, Bernardo S, Paiardini A, Giovannetti A, Marchionni E, Genovesi ML, Guadagnolo D, Torres B, Paolacci S, Bernardini L, Mazza T, Carella M, Caputo V, Pizzuti A. Traversa A, et al. Among authors: bernardo s. Mol Genet Genomic Med. 2020 Jan;8(1):e1054. doi: 10.1002/mgg3.1054. Epub 2019 Nov 22. Mol Genet Genomic Med. 2020. PMID: 31756055 Free PMC article.
Androgen insensitivity syndrome.
Gulía C, Baldassarra S, Zangari A, Briganti V, Gigli S, Gaffi M, Signore F, Vallone C, Nucciotti R, Costantini FM, Pizzuti A, Bernardo S, Porrello A, Piergentili R. Gulía C, et al. Among authors: bernardo s. Eur Rev Med Pharmacol Sci. 2018 Jun;22(12):3873-3887. doi: 10.26355/eurrev_201806_15272. Eur Rev Med Pharmacol Sci. 2018. PMID: 29949163 Free article. Review.
Bladder carcinoma: MDCT cystography and virtual cystoscopy.
Panebianco V, Sciarra A, Di Martino M, Bernardo S, Vergari V, Gentilucci A, Catalano C, Passariello R. Panebianco V, et al. Among authors: bernardo s. Abdom Imaging. 2010 Jun;35(3):257-64. doi: 10.1007/s00261-009-9530-y. Epub 2009 May 27. Abdom Imaging. 2010. PMID: 19471998
Evidence of disrupted rhombic lip development in the pathogenesis of Dandy-Walker malformation.
Haldipur P, Bernardo S, Aldinger KA, Sivakumar T, Millman J, Sjoboen AH, Dang D, Dubocanin D, Deng M, Timms AE, Davis BD, Plummer JT, Mankad K, Oztekin O, Manganaro L, Guimiot F, Adle-Biassette H, Russo R, Siebert JR, Kidron D, Petrilli G, Roux N, Razavi F, Glass IA, Di Gioia C, Silvestri E, Millen KJ. Haldipur P, et al. Among authors: bernardo s. Acta Neuropathol. 2021 Oct;142(4):761-776. doi: 10.1007/s00401-021-02355-7. Epub 2021 Aug 4. Acta Neuropathol. 2021. PMID: 34347142 Free PMC article.
244 results