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361 results

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Page 1
Prenatal diagnosis of hypochondroplasia: report of two cases.
Karadimas C, Sifakis S, Valsamopoulos P, Makatsoris C, Velissariou V, Nasioulas G, Petersen MB, Koumantakis E, Hatzaki A. Karadimas C, et al. Among authors: petersen mb. Am J Med Genet A. 2006 May 1;140(9):998-1003. doi: 10.1002/ajmg.a.31177. Am J Med Genet A. 2006. PMID: 16575888
Prenatal diagnosis of trisomy 2 mosaicism: a case report.
Sifakis S, Velissariou V, Papadopoulou E, Petersen MB, Koumantakis E. Sifakis S, et al. Among authors: petersen mb. Fetal Diagn Ther. 2004 Nov-Dec;19(6):488-90. doi: 10.1159/000080160. Fetal Diagn Ther. 2004. PMID: 15539872 Review.
Genetic skeletal disorders of the fetus and infant: pathologic and molecular findings in a series of 41 cases.
Konstantinidou AE, Agrogiannis G, Sifakis S, Karantanas A, Harakoglou V, Kaminopetros P, Hatzaki A, Petersen MB, Karadimas C, Velissariou V, Velonis S, Papantoniou N, Antsaklis A, Patsouris E. Konstantinidou AE, et al. Among authors: petersen mb. Birth Defects Res A Clin Mol Teratol. 2009 Oct;85(10):811-21. doi: 10.1002/bdra.20617. Birth Defects Res A Clin Mol Teratol. 2009. PMID: 19637253
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: petersen mb. 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.
A report of pure 7p duplication syndrome and review of the literature.
Papadopoulou E, Sifakis S, Sarri C, Gyftodimou J, Liehr T, Mrasek K, Kalmanti M, Petersen MB. Papadopoulou E, et al. Among authors: petersen mb. Am J Med Genet A. 2006 Dec 15;140(24):2802-6. doi: 10.1002/ajmg.a.31538. Am J Med Genet A. 2006. PMID: 17103460 Review.
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. Papoulidis I, et al. Among authors: petersen mb. Prenat Diagn. 2012 Jul;32(7):680-5. doi: 10.1002/pd.3888. Epub 2012 Apr 18. Prenat Diagn. 2012. PMID: 22513450
361 results