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Δημοσιεύσεις

Eur J Med Genet. 2012 Jul 25. [Epub ahead of print]

A 725 kb deletion at 22q13.1 chromosomal region including SOX10 gene in a boy with a neurologic variant of Waardenburg syndrome type 2

Siomou E, Manolakos E, Petersen M, Thomaidis L, Gyftodimou Y, Orru S, Papoulidis I.

Clin Exp Obstet Gynecol. 2012;39(1):118-21.

First trimester diagnosis of 13q-syndrome associated with increased fetal nuchal translucency thickness. Clinical findings and systematic review.

Manolakos E, Peitsidis P, Garas A, Vetro A, Eleftheriades M, Petersen MB, Papoulidis I.

Prenat Diagn. 2012 Jul;32(7):680-5. doi: 10.1002/pd.3888. Epub 2012 Apr 18.

Dual testing with QF-PCR and karyotype analysis for prenatal diagnosis of chromosomal abnormalities. Evaluation of 13,500 cases with consideration of using QF-PCR as a stand-alone test according to referral indications.

Papoulidis I, Siomou E, Sotiriadis A, Efstathiou G, Psara A, Sevastopoulou E, Anastasakis E, Sifakis S, Tsiligianni T, Kontodiou M, Malamaki C, Tzimina M, Petersen MB, Manolakos E, Athanasiadis A.

Cytogenet Genome Res. 2012;136(4):237-41. Epub 2012 Apr 5.

Tetrasomy 9p mosaicism associated with a normal phenotype in two cases.

Papoulidis I, Kontodiou M, Tzimina M, Saitis I, Hamid AB, Klein E, Kosyakova N, Kordass U, Kunz J, Siomou E, Nicolaides P, Orru S, Thomaidis L, Liehr T, Petersen MB, Manolakos E.

Cytogenet Genome Res. 2012;136(4):237-41. Epub 2012 Apr 5.

Tetrasomy 9p mosaicism associated with a normal phenotype in two cases.

Papoulidis I, Kontodiou M, Tzimina M, Saitis I, Hamid AB, Klein E, Kosyakova N, Kordass U, Kunz J, Siomou E, Nicolaides P, Orru S, Thomaidis L, Liehr T, Petersen MB, Manolakos E.

Clin Dysmorphol. 2012 Apr;21(2):101-5.

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.

Mol Cytogenet. 2012 Feb 28;5:12.
Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature.

Sifakis S, Manolakos E, Vetro A, Kappou D, Peitsidis P, Kontodiou M, Garas A, Vrachnis N, Konstandinidou A, Zuffardi O, Orru S, Papoulidis I.

Am J Med Genet A. 2011 Jun;155A(6):1476-82. doi: 10.1002/ajmg.a.33981. Epub 2011 May 12.
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.

Mol Med Report. 2010 Nov-Dec;3(6):1015-22. doi: 10.3892/mmr.2010.358. Epub 2010 Sep 10.
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, Peters

Placenta. 2011 Jan;32(1):102-4. Epub 2010 Nov 18.
Non-trophoblastic tumor of the placenta with combined histologic features of chorangioma and leiomyoma.

Miliaras D, Anagnostou E, Papoulidis I, Miliara X.
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