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Complex de novo chromosomal rearrangement at 15q11-q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: clinical report and review of the literature.
Castronovo C, Crippa M, Bestetti I, Rusconi D, Russo S, Larizza L, Sangermani R, Bonati MT, Finelli P. Castronovo C, et al. Among authors: rusconi d. Am J Med Genet A. 2015 Jan;167A(1):221-30. doi: 10.1002/ajmg.a.36815. Epub 2014 Oct 22. Am J Med Genet A. 2015. PMID: 25339188 Review.
A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype.
Castronovo C, Rusconi D, Crippa M, Giardino D, Gervasini C, Milani D, Cereda A, Larizza L, Selicorni A, Finelli P. Castronovo C, et al. Among authors: rusconi d. Am J Med Genet A. 2013 Mar;161A(3):611-8. doi: 10.1002/ajmg.a.35814. Epub 2013 Jan 22. Am J Med Genet A. 2013. PMID: 23341071
Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype.
Finelli P, Sirchia SM, Masciadri M, Crippa M, Recalcati MP, Rusconi D, Giardino D, Monti L, Cogliati F, Faravelli F, Natacci F, Zoccante L, Bernardina BD, Russo S, Larizza L. Finelli P, et al. Among authors: rusconi d. Mol Cytogenet. 2012 Apr 4;5:16. doi: 10.1186/1755-8166-5-16. Mol Cytogenet. 2012. PMID: 22475481 Free PMC article.
Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes.
Castronovo C, Valtorta E, Crippa M, Tedoldi S, Romitti L, Amione MC, Guerneri S, Rusconi D, Ballarati L, Milani D, Grosso E, Cavalli P, Giardino D, Bonati MT, Larizza L, Finelli P. Castronovo C, et al. Among authors: rusconi d. Mol Cytogenet. 2013 Oct 30;6(1):45. doi: 10.1186/1755-8166-6-45. Mol Cytogenet. 2013. PMID: 24171812 Free PMC article.
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.
Negri G, Magini P, Milani D, Colapietro P, Rusconi D, Scarano E, Bonati MT, Priolo M, Crippa M, Mazzanti L, Wischmeijer A, Tamburrino F, Pippucci T, Finelli P, Larizza L, Gervasini C. Negri G, et al. Among authors: rusconi d. Hum Mutat. 2016 Feb;37(2):175-83. doi: 10.1002/humu.22922. Epub 2015 Nov 4. Hum Mutat. 2016. PMID: 26486927
25 results