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1q44-qter trisomy: clinical report and review of the literature.
Lenzini E, Ballarati L, Drigo P, Carrozzi M, Gambel-Benussi D, Giardino D, Petix V, Rizzotto MR, Pecile V. Lenzini E, et al. Among authors: carrozzi m. Genet Test Mol Biomarkers. 2009 Feb;13(1):79-86. doi: 10.1089/gtmb.2008.0075. Genet Test Mol Biomarkers. 2009. PMID: 19309278 Review.
Trisomy 12p and monosomy 4p: phenotype-genotype correlation.
Benussi DG, Costa P, Zollino M, Murdolo M, Petix V, Carrozzi M, Pecile V. Benussi DG, et al. Among authors: carrozzi m. Genet Test Mol Biomarkers. 2009 Apr;13(2):199-204. doi: 10.1089/gtmb.2008.0109. Genet Test Mol Biomarkers. 2009. PMID: 19378504
Carbamazepine-induced thrombocytopenic purpura in a child: Insights from a genomic analysis.
Abate MV, Stocco G, Devescovi R, Carrozzi M, Pierobon C, Valencic E, Lucafò M, Di Silvestre A, D'Adamo P, Tommasini A, Decorti G, Ventura A. Abate MV, et al. Among authors: carrozzi m. Blood Cells Mol Dis. 2016 Jul;59:97-9. doi: 10.1016/j.bcmd.2016.05.001. Epub 2016 May 3. Blood Cells Mol Dis. 2016. PMID: 27282575 No abstract available.
19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference.
Trimouille A, Houcinat N, Vuillaume ML, Fergelot P, Boucher C, Toutain J, Caignec CL, Vincent M, Nizon M, Andrieux J, Vanlerberghe C, Delobel B, Duban B, Mansour S, Baple E, McKeown C, Poke G, Robertshaw K, Fifield E, Fabretto A, Pecile V, Gasparini P, Carrozzi M, Lacombe D, Arveiler B, Rooryck C, Moutton S. Trimouille A, et al. Among authors: carrozzi m. Eur J Hum Genet. 2018 Jan;26(1):85-93. doi: 10.1038/s41431-017-0037-7. Epub 2017 Nov 28. Eur J Hum Genet. 2018. PMID: 29184170 Free PMC article.
61 results