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Prenatal Identification of a Novel Mutation in the MCPH1 Gene Associated with Autosomal Recessive Primary Microcephaly (MCPH) Using Next Generation Sequencing (NGS): A Case Report and Review of the Literature.
Papoulidis I, Eleftheriades M, Manolakos E, Petersen MB, Liappi SM, Konstantinidou A, Papamichail M, Papadopoulos V, Garas A, Sotiriou S, Papastefanou I, Daskalakis G, Ristic A. Papoulidis I, et al. Among authors: manolakos e. Children (Basel). 2022 Nov 30;9(12):1879. doi: 10.3390/children9121879. Children (Basel). 2022. PMID: 36553323 Free PMC article.
Human Ring Chromosomes - New Insights for their Clinical Significance.
Guilherme R, Klein E, Hamid A, Bhatt S, Volleth M, Polityko A, Kulpanovich A, Dufke A, Albrecht B, Morlot S, Brecevic L, Petersen M, Manolakos E, Kosyakova N, Liehr T. Guilherme R, et al. Among authors: manolakos e. Balkan J Med Genet. 2013 Jun;16(1):13-20. doi: 10.2478/bjmg-2013-0013. Balkan J Med Genet. 2013. PMID: 24265580 Free PMC article.
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.
Recipient CTLA-4*CT60-AA genotype is a prognostic factor for acute graft-versus-host disease in hematopoietic stem cell transplantation for thalassemia.
Orrù S, Orrù N, Manolakos E, Littera R, Caocci G, Giorgiani G, Bertaina A, Pagliara D, Giardini C, Nesci S, Locatelli F, Carcassi C, La Nasa G. Orrù S, et al. Among authors: manolakos e. Hum Immunol. 2012 Mar;73(3):282-6. doi: 10.1016/j.humimm.2011.12.014. Epub 2011 Dec 31. Hum Immunol. 2012. PMID: 22245568 Free PMC article.
102 results