Antoniadi T, Rabionet R, Kroupis C, Aperis GA, Economides J, Petmezakis J, Economou-Petersen E, Estivill X, Petersen MB. High prevalence in the Greek population of the 35delG mutation in the connexin 26 gene causing prelingual deafness. Clin Genet 1999;55:381-382.
Gasparini P, Rabionet R, Barbujani G, Melchionda S, Petersen M, Brondum-Nielsen K, Metspalu A, Oitmaa E, Pisano M, Fortina P, Zelante L, Estivill X, Genetic Analysis Consortium of GJB2 35delG. High carrier frequency of the 35delG deafness mutation in European populations. Eur J Hum Genet 2000;8:19-23.
Pampanos A, Neou P, Iliades T, Apostolopoulos N, Voyiatzis N, Grigoriadou M, Katsichti L, Skevas A, Petersen MB. Pseudodominant inheritance of DFNB1 deafness due to the common 35delG mutation. Clin Genet 2000;57:232-234.
Antoniadi T, Gronskov K, Sand A, Pampanos A, Brondum-Nielsen K, Petersen MB. Mutation analysis of the GJB2 (connexin 26) gene by DGGE in Greek patients with sensorineural deafness. Hum Mutat 2000;16:7-12.
Antoniadi T, Pampanos A, Petersen MB. Prenatal diagnosis of prelingual deafness: carrier testing and prenatal diagnosis of the common GJB2 35delG mutation. Pren Diagn 2001;21:10-13.
Petersen MB. Μη-συνδρομική βαρηκοΐα: τόποι και γονίδια το έτος 2000. Γενετική του Ανθρώπου 2000;2(2):72-79.
Πάμπανος Α, Αντωνιάδη Θ, Οικονομίδης Ι, Ηλίαδης Θ, Βογιατζής Ν, Νέου Π, Αποστολόπουλος Ν, Πετμεζάκης Ι, Gronskov K, Brondum-Nielsen K, Γρηγοριάδου Μ, Γυφτοδήμου Γ, Σκεύας Α, Petersen MB. Μεταλλαγές στο γονίδιο GJB2 (κοννεξίνη 26) σε Έλληνες ασθενείς με μη συνδρομική βαρηκοΐα. Γενετική του Ανθρώπου 2000;2(2):94-99.
Οικονόμου-Petersen E, Κίτσος Γ, Πάνας Μ, Ψύλλας Κ, Petersen MB, Βασιλόπουλος Δ. Διπλασιασμός του μιτοχονδριακού DNA σε οικογένεια με μιτοχονδριακή εγκεφαλομυοπάθεια, σ. διαβήτη και βαρηκοΐα. Γενετική του Ανθρώπου 2000;2(2):100-106.
Hertz JM, Juncker I, Persson U, Matthijs G, Schmidtke J, Petersen MB, Kjeldsen M, Gregersen N. Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome. Hum Mutat 2001;18:141-148.
Wattenhofer M, Di Iorio MV, Rabionet R, Dougherty L, Pampanos A, Schwede T, Montserrat-Sentis B, Arbones ML, Iliades T, Pasquadibisceglie A, D’Amelio M, Alwan S, Rossier C, Dahl H-HM, Petersen MB, Estivill X, Gasparini P, Scott HS, Antonarakis SE. Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients. J Mol Med 2002;80:124-131.
Petersen MB. Mini review. Non-syndromic autosomal-dominant deafness. Clin Genet 2002;62:1-13.
Pampanos A, Economides J, Iliadou V, Neou P, Leotsakos P, Voyiatzis N, Eleftheriades N, Tsakanikos M, Antoniadi T, Hatzaki A, Konstantopoulou I, Yannoukakos D, Gronskov K, Brondum-Nielsen K, Grigoriadou M, Gyftodimou J, Iliades T, Skevas A, Petersen MB. Prevalence of GJB2 mutations in prelingual deafness in the Greek population. Int J Ped Otorhinolaryngol 2002;65:101-108.
Iliades T, Eleftheriades N, Iliadou V, Pampanos A, Voyiatzis N, Economides J, Leotsakos P, Neou P, Tsakanikos M, Antoniadi T, Konstantopoulou I, Yannoukakos D, Grigoriadou M, Skevas A, Petersen MB. Prelingual nonsyndromic hearing loss in Greece: molecular and clinical findings. ORL J Otorhinolaryngol Relat Spec 2002;64:321-323.
Iliadou V, Eleftheriades N, Metaxas AS, Skevas A, Kiratzidis T, Pampanos A, Voyiatzis N, Grigoriadou M, Petersen MB, Iliades T. Audiological profile of the prevalent genetic form of childhood sensorineural hearing loss due to GJB2 mutations in Northern Greece. Eur Arch Otorhinolaryngol 2004;261:259-261.
Nikas A, Kitsos G, Petersen MB, Papakostas V, Psylla M, Stefaniotou M. Stickler syndrome type II in a 10-year old boy. Ann Ophthalmol 2004;36:124-128.
Wattenhofer M, Reymond A, Falciola V, Charollais A, Caille D, Borel C, Lyle R, Estivill X, Petersen MB, Meda P, Antonarakis SE. Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro. Hum Mutat 2005;25:543-549.
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.
Petersen MB, Willems PJ. Review. Non-syndromic, autosomal-recessive deafness. Clin Genet 2006;69:371-392.
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.
Kokotas H, Petersen MB, Willems PJ. Mitochondrial deafness. Clin Genet 2007;71:379-391.
Petersen MB, Wang Q, Willems PJ. Sex-linked deafness. Clin Genet 2008;73:14-23.
Guipponi M, Toh M-Y, Tan J, Park D, Hanson K, Ballana E, Kwong D, Cannon PZF, Wu Q, Gout A, Delorenzi M, Speed TP, Smith RJH, Dahl HH, Petersen M, Teasdale RD, Estivill X, Park WJ, Scott HS. An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss. Hum Mutat 2008;29:130-141. |
