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• Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report.

  Aktas D, Weise A, Utine E, Alehan D, Mrasek K, von Eggeling F, Thieme H, Tuncbilek E, Liehr T. Aktas D, et al. Mol Cytogenet. 2009 Jun 30;2:14. doi: 10.1186/1755-8166-2-14. Mol Cytogenet. 2009. PMID: 19566937 Free PMC article.
• Mosaic derivative chromosomes at chorionic villi (CV) sampling are expression of genomic instability and precursors of cryptic disease-causing rearrangements: report of further four cases.

  Vitetta G, Desiderio L, Baccolini I, Uliana V, Lanzoni G, Ghi T, Pilu G, Ambrosini E, Caggiati P, Barili V, Trotta AC, Liuti MR, Malpezzi E, Pittalis MC, Percesepe A. Vitetta G, et al. Mol Cytogenet. 2024 Apr 8;17(1):8. doi: 10.1186/s13039-024-00675-3. Mol Cytogenet. 2024. PMID: 38589928 Free PMC article.
• Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture.

  Ciccone R, Mattina T, Giorda R, Bonaglia MC, Rocchi M, Pramparo T, Zuffardi O. Ciccone R, et al. J Med Genet. 2006 May;43(5):e19. doi: 10.1136/jmg.2005.037671. J Med Genet. 2006. PMID: 16648372 Free PMC article.
• Deciphering the Invdupdel(8p) Genotype-Phenotype Correlation: Our Opinion.

  Lo Bianco M, Vecchio D, Timpanaro TA, Arena A, Macchiaiolo M, Bartuli A, Sciuto L, Presti S, Sciuto S, Sapuppo A, Fiumara A, Marino L, Messina G, Pavone P. Lo Bianco M, et al. Brain Sci. 2020 Jul 15;10(7):451. doi: 10.3390/brainsci10070451. Brain Sci. 2020. PMID: 32679641 Free PMC article.
• Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation.

  Chabchoub E, Rodríguez L, Galán E, Mansilla E, Martínez-Fernandez ML, Martínez-Frías ML, Fryns JP, Vermeesch JR. Chabchoub E, et al. J Med Genet. 2007 Apr;44(4):250-6. doi: 10.1136/jmg.2006.045476. Epub 2006 Dec 15. J Med Genet. 2007. PMID: 17172463 Free PMC article.