Petersen MB, Kitsos G, Samples JR, Gaudette ND, Economou-Petersen E, Sykes R, Rust K, Grigoriadou M, Aperis G, Choi D, Psilas K, Craig JE, Kramer PL, Mackey DA, Wirtz MK. A large GLC1C Greek family with a myocilin T377M mutation: inheritance and phenotypic variability. Invest Ophthalmol Vis Sci 2006;47:620-625. (pdf)
Iliadou V, Van Den Bogaert K, Eleftheriades N, Aperis G, Vanderstraeten K, Fransen E, Thys M, Grigoriadou M, Pampanos A, Economides J, Iliades T, Van Camp G, Petersen MB. Monogenic nonsyndromic otosclerosis: audiological and linkage analysis in a large Greek pedigree. Int J Pediatr Otorhinolaryngol 2006;70:631-637. (pdf)
Konstantinidou AE, Anninos H, Gyftodimou Y, Petersen MB, Karadimas C, Fotopoulos S, Paraskevakou H, Akman HO, DiMauro S, Patsouris E. Neonatal neuromuscular variant of glycogen storage disease type IV: histopathological findings leading to the diagnosis. Histopathology 2006;48:878-880. (pdf)
Karadimas C, Trouvas D, Haritatos G, Makatsoris C, Dedoulis E, Velissariou V, Antoniadi T, Hatzaki A, Petersen MB. Prenatal diagnosis of achondroplasia presenting with multiple-suture synostosis: a novel association. Prenat Diagn 2006;26:258-261. (pdf)
Karadimas C, Sifakis S, Valsamopoulos P, Makatsoris C, Velissariou V, Nasioulas G, Petersen MB, Koumantakis E, Hatzaki A. Prenatal diagnosis of hypochondroplasia: report of two cases. Am J Med Genet 2006;140A: 998-1003. (pdf)
Petersen MB, Willems PJ. Review. Non-syndromic, autosomal-recessive deafness. Clin Genet 2006;69:371-392.
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)
Akman HO, Karadimas C, Gyftodimou Y, Grigoriadou M, Kokotas H, Konstantinidou A, Anninos H, Patsouris E, Thaker HM, Kaplan JB, Besharat I, Hatzikonstantinou K, Fotopoulos S, DiMauro S, Petersen MB. Prenatal diagnosis of glycogen storage disease type IV. Prenat Diagn 2006,26:951-955. (pdf)
Yang Z, Kitsos G, Tong Z, Payne M, Gorezis S, Psilas K, Grigoriadou M, Zhao Y, Kamaya S, Aperis G, Petersen MB, Zhang K. A novel locus on 19q13 associated with autosomal-dominant macular dystrophy in a large Greek family. J Med Genet 2006;43:e57. (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)
Παπαφυλακτού Μ, Λαπατσάνης Π, Πουλόπουλος Π, Petersen MB, Μιχαλακάκου Κ, Προύντζου-Κάσσιου Κ. Αντιμετώπιση της οστεοπόρωσης και των καταγμάτων με δινατριούχο παμιδρονάτη σε βρέφος με ατελή οστεογένεση τύπου IV. Παιδιατρική 2006;69:452-457.
Majava M, Hoornaert KP, Bartholdi D, Bouma MC, Bouman K, Carrera M, Devriendt K, Hurst J, Kitsos G, Niedrist D, Petersen MB, Shears D, Stolte-Dijkstra I, Van Hagen JM, Ala-Kokko L, Mannikko M, Mortier GR. A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies. Am J Med Genet 2007;143A:258-264.
Thys M, Van Den Bogaert K, Iliadou V, Vanderstraeten K, Dieltjens N, Schrauwen I, Chen W, Eleftheriades N, Grigoriadou M, Pauw RJ, Cremers CRWJ, Smith RJH, Petersen MB, Van Camp G. A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13-16.1. Eur J Hum Genet 2007;15:362-368. (pdf)
Hewitt AW, Samples JR, Allingham RR, Jarvela I, Kitsos G, Krishnadas SR, Richards JE, Lichter PR, Petersen MB, Sundaresan P, Wiggs JL, Mackey DA, Wirtz MK. Investigation of founder effects for the Thr377Met myocilin mutation in glaucoma families from differing ethnic backgrounds. Mol Vis 2007;13:487-492. (pdf)
Whyte MP, Singhellakis PN, Petersen MB, Davies M, Totty WG, Mumm S. Juvenile Paget’s disease: The second reported, oldest patient is homozygous for the TNFRSF11B “Balkan” mutation (966_969delTGACinsCTT), which elevates circulating immunoreactive osteoprotegerin levels. J Bone Miner Res 2007;22:938-946. (pdf)
Kokotas H, Petersen MB, Willems PJ. Mitochondrial deafness. Clin Genet 2007;71:379-391. (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.
Πέτρου Ζ, Hewitt AW, Samples JR, Mackey DA, Wirt MK, Petersen MB, Κίτσος Γ. Ιδρυτική μεταλλαγή Thr377Met της μυοσιλίνης σε εννέα οικογένειες με πρωτοπαθές γλαύκωμα ανοικτής γωνίας με διαφορετική μεταξύ τους εθνική καταγωγή. Οφθαλμολογικά Χρονικά 2007;17:289-294.
Zollino M, Lecce R, Murdolo M, Orteschi D, Marangi G, Selicorni A, Midro A, Sorge G, Zampino G, Memo L, Battaglia D, Petersen M, Pandelia E, Gyftodimou Y, Faravelli F, Tenconi R, Garavelli L, Mazzanti L, Fischetto R, Cavalli P, Savasta S, Rodriguez L, Neri G. Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16. Hum Genet 2007;122:423-430. (pdf)
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