Petersen MB. Nondisjunction studies in trisomies 21 and 18. Review. In: Early prenatal Diagnostics, Proceedings of the Final Colloquium of the German Collaborative Study on "Prenatal Diagnostics on Chorionic Villi". Verlag Dr. Kovac, Hamburg, 1995, pp 161-171.

 

Avramopoulos D, Mikkelsen M, Vassilopoulos D, Grigoriadou M, Petersen MB. Apolipoprotein E allele distribution in parents of Down's syndrome children. Lancet 1996;347:862-865.

 

Bugge M, Blennow E, Friedrich U, Petersen MB, Pedeutour F, Tsezou A, Orum A, Hermann S, Lyngbye T, Sarri C, Avramopoulos D, Kitsiou S, Lambert JC, Guzda M, Tommerup N, Brondum-Nielsen K. Tetrasomy 18p de novo: parental origin and different mechanisms of formation. Eur J Hum Genet 1996;4:160-167.

 

Lamb NE, Freeman SB, Savage-Austin A, Pettay D, Taft L, Hersey J, Gu Y, Shen J, Saker D, May KM, Avramopoulos D, Petersen MB, Hallberg A, Mikkelsen M, Hassold TJ, Sherman SL. Susceptible chiasmate configurations of chromosome 21 predispose to non-disjunction in both maternal meiosis I and meiosis II. Nat Genet 1996;14:400-405.

 

Avramopoulos D, Kennerknecht I, Barbi G, Eckert D, Delabar JM, Maunoury C, Hallberg A, Petersen MB. A case of apparent trisomy 21 without the Down's syndrome phenotype. J Med Genet 1997;34:597-600.

 

Bartsch O, Hinkel GK, Petersen MB, Konig U, Bugge M, Mikkelsen M, Avramopoulos D, Morris M, Antonarakis SE. A large family with subtelomeric translocation t(18;21)(q23;q22.1) and molecular breakpoint in the Down syndrome critical region. Hum Genet 1997;100:669-675.

 

Lamb NE, Feingold E, Savage A, Avramopoulos D, Freeman S, Gu Y, Hallberg A, Hersey J, Karadima G, Pettay D, Saker D, Shen J, Taft L, Mikkelsen M, Petersen MB, Hassold T, Sherman SL. Characterization of susceptible chiasma configurations that increase the risk for maternal nondisjunction of chromosome 21. Hum Mol Genet 1997;6:1391-1399.

 

Sarri C, Gyftodimou J, Avramopoulos D, Grigoriadou M, Pedersen W, Pandelia E, Pangalos C, Abazis D, Kitsos G, Vassilopoulos D, Brondum-Nielsen K, Petersen MB. 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. Am J Med Genet 1997;70:87-94.

 

Bugge M, Collins A, Petersen MB, Fisher J, Brandt C, Hertz JM, Tranebjaerg L, de Lozier-Blanchet C, Nicolaides P, Brondum-Nielsen K, Morton N, Mikkelsen M. Non-disjunction of chromosome 18. Hum Mol Genet 1998;7:661-669.

 

Nicolaidis P, von Beust G, Bugge M, Karadima G, Vassilopoulos D, Brondum-Nielsen K, Petersen MB. Analysis of the origin of the extra chromosome in trisomy 8 in 4 cases of spontaneous abortions. Fetal Diagn Ther 1998;13:42-45.

 

Nicolaidis P, Petersen MB. Review. Origin and mechanisms of non-disjunction in human autosomal trisomies. Hum Reprod 1998;13:313-319.

 

Karadima G, Bugge M, Nicolaidis P, Vassilopoulos D, Avramopoulos D, Grigoriadou M, Albrecht B, Passarge E, Anneren G, Blennow E, Clausen N, Galla-Voumvouraki A, Tsezou A, Kitsiou-Tzeli S, Hahnemann JM, Hertz JM, Houge G, Kuklik M, Macek M, Lacombe D, Miller K, Moncla A, Pajares IL, Patsalis PC, Prieur M, Vekemans M, von Beust G, Brondum-Nielsen K, Petersen MB. Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism. Eur J Hum Genet 1998;6:432-438.

 

Robinson WP, Kuchinka BD, Bernasconi F, Petersen MB, Schulze A, Brrndum-Nielsen K, Christian SL, Ledbetter DH, Schinzel AA, Horsthemke B, Schuffenhauer S, Michaelis RC, Langlois S, Hassold TJ. Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination. Hum Mol Genet 1998;7:1011-1019.

 

Savage AR, Petersen MB, Pettay D, Taft L, Allran K, Freeman SB, Karadima G, Avramopoulos D, Torfs C, Mikkelsen M, Hassold TJ, Sherman SL. Elucidating the mechanisms of paternal non-disjunction of chromosome 21 in humans. Hum Mol Genet 1998;7:1221-1227.

 

Cavani S, Perfumo C, Argusti A, Pierluigi M, Perroni L, Schmiegelow K, Petersen MB, Cotter FE, Strigini P, Dagna-Bricarelli F, Nizetic D. Cytogenetic and molecular study of 32 Down syndrome families: potential leukaemia predisposing role of the most proximal segment of chromosome 21q. Br J Haematol 1998;103:213-216.

 

Gyftodimou J, Karadima G, Pandelia E, Vassilopoulos D, Petersen MB. Angelman syndrome with uniparental disomy due to paternal meiosis II nondisjunction. Clin Genet 1999;55:483-486.

 

Dacou-Voutetakis C, Sertedaki A, Maniatis-Christidis M, Sarri C, Karadima G, Petersen MB, Xaidara A, Kanariou M, Nicolaidou P. Insulin dependent diabetes mellitus (IDDM) and autoimmune thyroiditis in a boy with a ring chromosome 18: additional evidence of autoimmunity or IDDM gene(s) on chromosome 18. J Med Genet 1999;36:156-158.

 

Petersen MB. Mapping of the Down syndrome region on chromosome 21. In: Beazoglou T, Benn P, Cuckle H, Haddow J, Kyriopoulos J (eds): Down syndrome screening policy and economic evaluations. Exandas Publishers, Athens, 1999, pp 245-254.

 

Κίτσιου Σ, Τσέζου Α, Γαλλά Α, Σύρρου Μ, Καραδήμα Γ, Blennow E, Petersen MB. Μερική τρισωμία 9p de novo: Μοριακή ταυτοποίηση και διερεύνηση του παθογενετικού μηχανισμού. Γενετική του Ανθρώπου 1999;2:86-94.

 

Petersen MB, Karadima G, Samaritaki M, Avramopoulos D, Vassilopoulos D, Mikkelsen M. Association between presenilin-1 polymorphism and maternal meiosis II errors in Down syndrome. Am J Med Genet 2000;93:366-372.

 

Lynn A, Kashuk C, Petersen MB, Bailey JA, Cox DR, Antonarakis SE, Chakravarti A. Patterns of meiotic recombination on the long arm of human chromosome 21. Genome Res 2000;10:1319-1332.

 

Dean G, Nevin NC, Mikkelsen M, Karadima G, Petersen MB, Kelly M, O'Sullivan J. Investigation of a cluster of children with Down’s syndrome born to mothers who had attended a school in Dundalk, Ireland. Occup Environ Med 2000;57:793-804.

 

Petersen MB, Mikkelsen M. Nondisjunction in trisomy 21: Origin and mechanisms. Cytogenet Cell Genet 2000;91:199-203.

 

Velissariou V, Antoniadi T, Gyftodimou J, Bakou K, Grigoriadou M, Christopoulou S, Hatzipouliou A, Donoghue J, Karatzis P, Katsarou E, Petersen MB. Maternal uniparental isodisomy 20 in a foetus with trisomy 20 mosaicism: clinical, cytogenetic and molecular analysis. Eur J Hum Genet 2002;10:694-698.

 

Qumsiyeh MB, Rafi SK, Sarri C, Grigoriadou M, Gyftodimou J, Pandelia E, Laskari H, Petersen MB. Double supernumerary isodicentric chromosomes derived from 15 resulting in partial hexasomy. Am J Med Genet 2003;116A:356-359.

 

Bugge M, Brandt CA, Petersen MB. DNA studies of mono- and pseudodicentric isochromosomes 18q. Am J Med Genet 2004;127A:230-233.

 

Sifakis S, Velissariou V, Papadopoulou E, Petersen MB, Koumantakis E. Prenatal diagnosis of trisomy 2 mosaicism: a case report. Fetal Diagn Ther 2004;19:488-490.

 

Bugge M, deLozier-Blanchet C, Bak M, Brandt CA, Hertz JM, Nielsen JB, Duprez L, Petersen MB. Trisomy 13 due to rea(13q;13q) is caused by i(13) and not rob(13;13)(q10;q10) in the majority of cases. Am J Med Genet 2005;132A:310-313.

 

Machatkova M, Brouckova M, Matejckova M, Krebsova A, Sperling K, Vorsanova S, Kutsev S, Zerova T, Arbuzova S, Krejci R, Petersen M, Macek Sr. M. QF-PCR examination of parental and meiotic origin of trisomy 21 in central and eastern Europe. J Histochem Cytochem 2005;53:371-373.

 

Sarri C, Gyftodimou Y, Grigoriadou M, Pandelia E, Kalogirou S, Kokotas H, Mrasek K, Weise A, Petersen MB. Supernumerary marker chromosome 5 diagnosed by M-FISH in a child with congenital heart defect and unusual facies. Cytogenet Genome Res 2006;114:330-337. (pdf)

 

Papadopoulou E, Sifakis S, Sarri C, Gyftodimou J, Liehr T, Mrasek K, Kalmanti M, Petersen MB. A report of pure 7p duplication syndrome and review of the literature. Am J Med Genet 2006;140:2802-2806. (pdf)

 

Bugge M, Collins A, Hertz JM, Eiberg H, Lundsteen C, Brandt CA, Bak M, Hansen C, deLozier CD, Lespinasse J, Tranebjaerg L, Hahnemann JMD, Rasmussem K, Bruun-Petersen G, Duprez L, Tommerup N, Petersen MB. Non-disjunction of chromosome 13. Hum Molec Genet 2007;16:2004-2010.

 

Kokotas H, Grigoriadou M, Petersen MB. Meiotic nondisjunction - the major cause of trisomy 21. In: Egel R & Lankenau D-H (eds): Recombination and Meiosis – Crossing-Over and Disjunction, Springer-Verlag, Berlin Heidelberg 2008;245-278. (pdf)