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Molecular Etiology Disclosed by Array CGH in Patients With Silver-Russell Syndrome or Similar Phenotypes.
Crippa M, Bonati MT, Calzari L, Picinelli C, Gervasini C, Sironi A, Bestetti I, Guzzetti S, Bellone S, Selicorni A, Mussa A, Riccio A, Ferrero GB, Russo S, Larizza L, Finelli P. Crippa M, et al. Among authors: picinelli c. Front Genet. 2019 Oct 15;10:955. doi: 10.3389/fgene.2019.00955. eCollection 2019. Front Genet. 2019. PMID: 31749829 Free PMC article.
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire.
Rusconi D, Negri G, Colapietro P, Picinelli C, Milani D, Spena S, Magnani C, Silengo MC, Sorasio L, Curtisova V, Cavaliere ML, Prontera P, Stangoni G, Ferrero GB, Biamino E, Fischetto R, Piccione M, Gasparini P, Salviati L, Selicorni A, Finelli P, Larizza L, Gervasini C. Rusconi D, et al. Among authors: picinelli c. Hum Genet. 2015 Jun;134(6):613-26. doi: 10.1007/s00439-015-1542-9. Epub 2015 Mar 25. Hum Genet. 2015. PMID: 25805166 Free article. Clinical Trial.
Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors.
Roversi G, Picinelli C, Bestetti I, Crippa M, Perotti D, Ciceri S, Saccheri F, Collini P, Poliani PL, Catania S, Peissel B, Pagni F, Russo S, Peterlongo P, Manoukian S, Finelli P. Roversi G, et al. Among authors: picinelli c. Sci Rep. 2015 Oct 20;5:15454. doi: 10.1038/srep15454. Sci Rep. 2015. PMID: 26482194 Free PMC article.
Yield of array-CGH analysis in Tunisian children with autism spectrum disorder.
Chehbani F, Tomaiuolo P, Picinelli C, Baccarin M, Castronovo P, Scattoni ML, Gaddour N, Persico AM. Chehbani F, et al. Among authors: picinelli c. Mol Genet Genomic Med. 2022 Aug;10(8):e1939. doi: 10.1002/mgg3.1939. Epub 2022 Jun 27. Mol Genet Genomic Med. 2022. PMID: 35762097 Free PMC article.
18 results