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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: sotiriou s. Children (Basel). 2022 Nov 30;9(12):1879. doi: 10.3390/children9121879. Children (Basel). 2022. PMID: 36553323 Free PMC article.
Characterization of 23 small supernumerary marker chromosomes detected at pre-natal diagnosis: The value of fluorescence in situ hybridization.
Manolakos E, Kefalas K, Neroutsou R, Lagou M, Kosyakova N, Ewers E, Ziegler M, Weise A, Tsoplou P, Rapti SM, Papoulidis I, Anastasakis E, Garas A, Sotiriou S, Eleftheriades M, Peitsidis P, Malathrakis D, Thomaidis L, Kitsos G, Orru S, Liehr T, Petersen MB, Kitsiou-Tzeli S. Manolakos E, et al. Among authors: sotiriou s. Mol Med Rep. 2010 Nov-Dec;3(6):1015-22. doi: 10.3892/mmr.2010.358. Epub 2010 Sep 10. Mol Med Rep. 2010. PMID: 21472348
Deletion 2q31.2-q31.3 in a 4-year-old girl with microcephaly and severe mental retardation.
Manolakos E, Vetro A, Kefalas K, Thomaidis L, Aperis G, Sotiriou S, Kitsos G, Merkas M, Sifakis S, Papoulidis I, Liehr T, Zuffardi O, Petersen MB. Manolakos E, et al. Among authors: sotiriou s. Am J Med Genet A. 2011 Jun;155A(6):1476-82. doi: 10.1002/ajmg.a.33981. Epub 2011 May 12. Am J Med Genet A. 2011. PMID: 21567918 No abstract available.
Prenatal detection of an inverted duplication deletion in the long arm of chromosome 1 in a fetus with increased nuchal translucency. Molecular cytogenetic analysis and review of the literature.
Manolakos E, Sifakis S, Sotiriou S, Peitsidis P, Eleftheriades M, Mersinias V, Liehr T, Thomaidis L, Kitsos G, Papoulidis I, Petersen MB, Orru S. Manolakos E, et al. Among authors: sotiriou s. Clin Dysmorphol. 2012 Apr;21(2):101-105. doi: 10.1097/MCD.0b013e32834e9279. Clin Dysmorphol. 2012. PMID: 22391621 Review. No abstract available.
7q Deletion/12q Duplication Is the Possible Cause of an Alobar Holoprosencephaly Case.
Paspaliaris V, Vrachnis N, Iliodromiti Z, Antonakopoulos N, Papaioannou G, Vlachadis N, Anastasiadou F, Sotiriou S, Garas A, Thomaidis L, Manolakos E. Paspaliaris V, et al. Among authors: sotiriou s. Mol Syndromol. 2017 Dec;9(1):52-57. doi: 10.1159/000481972. Epub 2017 Nov 24. Mol Syndromol. 2017. PMID: 29456484 Free PMC article.
82 results