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, M.B.
Published in American journal of medical genetics. Part A (15.12.2006)
Published in American journal of medical genetics. Part A (15.12.2006)
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Angelman syndrome with uniparental disomy due to paternal meiosis II nondisjunction
Gyftodimou, J, Karadima, G, Pandelia, E, Vassilopoulos, D, Petersen, Mb
Published in Clinical genetics (01.06.1999)
Published in Clinical genetics (01.06.1999)
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Partial trisomy 17q22-qter and partial monosomy Xq27-qter in a girl with a de novo unbalanced translocation due to a postzygotic error: case report and review of the literature on partial trisomy 17qter
Sarri, C, Gyftodimou, J, Avramopoulos, D, Grigoriadou, M, Pedersen, W, Pandelia, E, Pangalos, C, Abazis, D, Kitsos, G, Vassilopoulos, D, Brøndum-Nielsen, K, Petersen, M B
Published in American journal of medical genetics (02.05.1997)
Published in American journal of medical genetics (02.05.1997)
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A linkage study of the locus for X-linked Charcot-Marie-Tooth disease
Goonewardena, P, Welihinda, J, Anvret, M, Gyftodimou, J, Haegermark, A, Iselius, L, Lindsten, J, Pettersson, U
Published in Clinical genetics (01.06.1988)
Published in Clinical genetics (01.06.1988)
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The 11q;22q translocation: a collaborative study of 20 new cases and analysis of 110 families
Iselius, L, Lindsten, J, Aurias, A, Fraccaro, M, Bastard, C, Bottelli, A M, Bui, T H, Caufin, D, Dalprà, L, Delendi, N
Published in Human genetics (01.01.1983)
Published in Human genetics (01.01.1983)
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Maternal uniparental isodisomy 20 in a foetus with trisomy 20 mosaicism: clinical, cytogenetic and molecular analysis
Velissariou, Voula, Antoniadi, Thalia, Gyftodimou, Jolanda, Bakou, Katerina, Grigoriadou, Maria, Christopoulou, Stavroula, Hatzipouliou, Athina, Donoghue, Jackie, Karatzis, Panagiotis, Katsarou, Efstathia, Petersen, Michael B
Published in European journal of human genetics : EJHG (01.11.2002)
Published in European journal of human genetics : EJHG (01.11.2002)
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Prevalence of GJB2 mutations in prelingual deafness in the Greek population
Pampanos, Andreas, Economides, John, Iliadou, Vassiliki, Neou, Polyxeni, Leotsakos, Paulos, Voyiatzis, Nikolaos, Eleftheriades, Nikolaos, Tsakanikos, Michael, Antoniadi, Thalia, Hatzaki, Angeliki, Konstantopoulou, Irene, Yannoukakos, Drakoulis, Gronskov, Karen, Brondum-Nielsen, Karen, Grigoriadou, Maria, Gyftodimou, Jolanda, Iliades, Theophilos, Skevas, Antonios, Petersen, Michael B
Published in International journal of pediatric otorhinolaryngology (02.09.2002)
Published in International journal of pediatric otorhinolaryngology (02.09.2002)
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Double supernumerary isodicentric chromosomes derived from 15 resulting in partial hexasomy
Qumsiyeh, Mazin B., Rafi, Syed K., Sarri, Catherine, Grigoriadou, Maria, Gyftodimou, Jolanda, Pandelia, Effie, Laskari, Hara, Petersen, Michael B.
Published in American journal of medical genetics. Part A (01.02.2003)
Published in American journal of medical genetics. Part A (01.02.2003)
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Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms
BRØNDUM-NIELSEN, K, BECK, B, STAFANGER, G, ZETTERQVIST, P, TOMMERUP, N, GYFTODIMOU, J, HØRLYK, H, LILJENBERG, U, PETERSEN, M. B, PEDERSEN, W, PETERSEN, M. B, SAND, A, SKOVBY, F
Published in Human genetics (01.01.1997)
Published in Human genetics (01.01.1997)
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Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome
Wang, M S, Schinzel, A, Kotzot, D, Balmer, D, Casey, R, Chodirker, B N, Gyftodimou, J, Petersen, M B, Lopez-Rangel, E, Robinson, W P
Published in American journal of medical genetics (03.09.1999)
Published in American journal of medical genetics (03.09.1999)
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