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103 results

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Page 1
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.
Vetro A, Dehghani MR, Kraoua L, Giorda R, Beri S, Cardarelli L, Merico M, Manolakos E, Parada-Bustamante A, Castro A, Radi O, Camerino G, Brusco A, Sabaghian M, Sofocleous C, Forzano F, Palumbo P, Palumbo O, Calvano S, Zelante L, Grammatico P, Giglio S, Basly M, Chaabouni M, Carella M, Russo G, Bonaglia MC, Zuffardi O. Vetro A, et al. Among authors: manolakos e. Eur J Hum Genet. 2015 Aug;23(8):1025-32. doi: 10.1038/ejhg.2014.237. Epub 2014 Nov 5. Eur J Hum Genet. 2015. PMID: 25351776 Free PMC article.
Unexpected results in the constitution of small supernumerary marker chromosomes.
Vetro A, Manolakos E, Petersen MB, Thomaidis L, Liehr T, Croci G, Franchi F, Marinelli M, Meneghelli E, Dal Bello B, Cesari S, Iasci A, Arrigo G, Zuffardi O. Vetro A, et al. Among authors: manolakos e. Eur J Med Genet. 2012 Mar;55(3):185-90. doi: 10.1016/j.ejmg.2012.01.010. Epub 2012 Jan 28. Eur J Med Genet. 2012. PMID: 22342433 Free article.
Small supernumerary marker chromosomes: A legacy of trisomy rescue?
Kurtas NE, Xumerle L, Leonardelli L, Delledonne M, Brusco A, Chrzanowska K, Schinzel A, Larizza D, Guerneri S, Natacci F, Bonaglia MC, Reho P, Manolakos E, Mattina T, Soli F, Provenzano A, Al-Rikabi AH, Errichiello E, Nazaryan-Petersen L, Giglio S, Tommerup N, Liehr T, Zuffardi O. Kurtas NE, et al. Among authors: manolakos e. Hum Mutat. 2019 Feb;40(2):193-200. doi: 10.1002/humu.23683. Epub 2018 Nov 22. Hum Mutat. 2019. PMID: 30412329 Free article.
Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH.
Vetro A, Goidin D, Lesende I, Limongelli I, Ranzani GN, Novara F, Bonaglia MC, Rinaldi B, Franchi F, Manolakos E, Lonardo F, Scarano F, Scarano G, Costantino L, Tedeschi S, Giglio S, Zuffardi O. Vetro A, et al. Among authors: manolakos e. Clin Genet. 2018 Mar;93(3):545-556. doi: 10.1111/cge.13060. Epub 2017 Sep 15. Clin Genet. 2018. PMID: 28556904
Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization.
Papadopoulou Z, Papoulidis I, Sifakis S, Markopoulos G, Vetro A, Vlaikou AM, Ziegler M, Liehr T, Thomaidis L, Zuffardi O, Syrrou M, George K, Manolakos E. Papadopoulou Z, et al. Among authors: manolakos e. Mol Med Rep. 2017 Dec;16(6):8808-8818. doi: 10.3892/mmr.2017.7760. Epub 2017 Oct 10. Mol Med Rep. 2017. PMID: 29039589 Free PMC article. Review.
Partial trisomy 2p and partial monosomy 2q arising from a paternal intrachromosomal 2q-into-2p between-arm insertion and paracentric inversion: molecular cytogenetic characterization of a four-break rearrangement.
Manolakos E, Vetro A, Papadopoulou E, Kefalas K, Lagou M, Thomaidis L, Peitsidis P, Sifakis S, Divane A, Ziegler M, Liehr T, Zuffardi O, Papoulidis I. Manolakos E, et al. Cytogenet Genome Res. 2013;140(1):12-20. doi: 10.1159/000350868. Epub 2013 May 4. Cytogenet Genome Res. 2013. PMID: 23652918
103 results