Browsing by Author Petersen, M. B.

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Audiological profile of the prevalent genetic form of childhood sensorineural hearing loss due to GJB2 mutations in northern GreeceIliadou, V.; Eleftheriades, N.; Metaxas, A. S.; Skevas, A.; Kiratzidis, T.; Pampanos, A.; Voyiatzis, N.; Grigoriadou, M.; Petersen, M. B.; Iliades, T.24-Nov-2015-
Characterization of 23 small supernumerary marker chromosomes detected at pre-natal diagnosis: The value of fluorescence in situ hybridizationManolakos, E.; Kefalas, K.; Neroutsou, R.; Lagou, M.; Kosyakova, N.; Ewers, E.; Ziegler, M.; Weise, A.; Tsoplou, P.; Rapti, S. M.; Papoulidis, I.; Anastasakis, E.; Garas, A.; Sotiriou, S.; Eleftheriades, M.; Peitsidis, P.; Malathrakis, D.; Thomaidis, L.; Kitsos, G.; Orru, S.; Liehr, T.; Petersen, M. B.; Kitsiou-Tzeli, S.24-Nov-2015-
Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boyManolakos, E.; Sarri, C.; Vetro, A.; Kefalas, K.; Leze, E.; Sofocleus, C.; Kitsos, G.; Merou, K.; Kokotas, H.; Papadopoulou, A.; Attilakos, A.; Petersen, M. B.; Kitsiou-Tzeli, S.24-Nov-2015-
Complex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18)(q21.32-qter) investigated by FISH and array-CGH: Case reportManolakos, E.; Kosyakova, N.; Thomaidis, L.; Neroutsou, R.; Weise, A.; Mihalatos, M.; Orru, S.; Kokotas, H.; Kitsos, G.; Liehr, T.; Petersen, M. B.24-Nov-2015-
Deletion 2q31.2-q31.3 in a 4-year-old girl with microcephaly and severe mental retardationManolakos, E.; Vetro, A.; Kefalas, K.; Thomaidis, L.; Aperis, G.; Sotiriou, S.; Kitsos, G.; Merkas, M.; Sifakis, S.; Papoulidis, I.; Liehr, T.; Zuffardi, O.; Petersen, M. B.24-Nov-2015-
Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome)Manolakos, E.; Orru, S.; Neroutsou, R.; Kefalas, K.; Louizou, E.; Papoulidis, I.; Thomaidis, L.; Peitsidis, P.; Sotiriou, S.; Kitsos, G.; Tsoplou, P.; Petersen, M. B.; Metaxotou, A.24-Nov-2015-
Exclusion of one pedigree affected by adult onset primary open angle glaucoma from linkage to the juvenile glaucoma locus on chromosome 1q21-q31Avramopoulos, D.; Kitsos, G.; Economou-Petersen, E.; Grigoriadou, M.; Vassilopoulos, D.; Papageorgiou, C.; Psilas, K.; Petersen, M. B.24-Nov-2015-
A fetus with ring chromosome 21 characterized by aCGH shows no clinical findings after birthPapoulidis, I.; Manolakos, E.; Siomou, E.; Kefalas, K.; Thomaidis, L.; Liehr, T.; Vetro, A.; Athanasiadis, A.; Zuffardi, O.; Petersen, M. B.24-Nov-2015-
FRAXA and FRAXE prevalence in patients with nonspecific mental retardation in the Hellenic populationSyrrou, M.; Georgiou, I.; Grigoriadou, M.; Petersen, M. B.; Kitsiou, S.; Pagoulatos, G.; Patsalis, P. C.24-Nov-2015-
Genetic linkage of autosomal dominant primary open angle glaucoma to chromosome 3q in a Greek pedigreeKitsos, G.; Eiberg, H.; Economou-Petersen, E.; Wirtz, M. K.; Kramer, P. L.; Aspiotis, M.; Tommerup, N.; Petersen, M. B.; Psilas, K.24-Nov-2015-
Investigation of founder effects for the Thr377Met Myocilin mutation in glaucoma families from differing ethnic backgroundsHewitt, A. W.; Samples, J. R.; Allingham, R. R.; Jarvela, I.; Kitsos, G.; Krishnadas, S. R.; Richards, J. E.; Lichter, P. R.; Petersen, M. B.; Sundaresan, P.; Wiggs, J. L.; Mackey, D. A.; Wirtz, M. K.24-Nov-2015-
A large GLC1C Greek family with a myocilin T377M mutation: inheritance and phenotypic variabilityPetersen, M. B.; Kitsos, G.; Samples, J. R.; Gaudette, N. D.; Economou-Petersen, E.; Sykes, R.; Rust, K.; Grigoriadou, M.; Aperis, G.; Choi, D.; Psilas, K.; Craig, J. E.; Kramer, P. L.; Mackey, D. A.; Wirtz, M. K.24-Nov-2015-
Molecular cytogenetic characterization and origin of two de novo duplication 9p casesTsezou, A.; Kitsiou, S.; Galla, A.; Petersen, M. B.; Karadima, G.; Syrrou, M.; Sahlen, S.; Blennow, E.24-Nov-2015-
A novel locus on 19q13 associated with autosomal-dominant macular dystrophy in a large Greek familyYang, Z.; Kitsos, G.; Tong, Z.; Payne, M.; Gorezis, S.; Psilas, K.; Grigoriadou, M.; Zhao, Y.; Kamaya, S.; Aperis, G.; Petersen, M. B.; Zhang, K.24-Nov-2015-
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 17qterSarri, C.; Gyftodimou, J.; Avramopoulos, D.; Grigoriadou, M.; Pedersen, W.; Pandelia, E.; Pangalos, C.; Abazis, D.; Kitsos, G.; Vassilopoulos, D.; Brondum-Nielsen, K.; Petersen, M. B.24-Nov-2015-
Prelingual nonsyndromic hearing loss in Greece. Molecular and clinical findingsIliades, 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, M. B.24-Nov-2015-
Prenatal detection of an inverted duplication deletion in the long arm of chromosome 1 in a fetus with increased nuchal translucency. Molecular cytogenetic analysis and review of the literatureManolakos, E.; Sifakis, S.; Sotiriou, S.; Peitsidis, P.; Eleftheriades, M.; Mersinias, V.; Liehr, T.; Thomaidis, L.; Kitsos, G.; Papoulidis, I.; Petersen, M. B.; Orru, S.24-Nov-2015-
Prevalence of GJB2 mutations in prelingual deafness in the Greek populationPampanos, 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, M. B.24-Nov-2015-
Primary open angle glaucoma due to T377M MYOC: Population mapping of a Greek founder mutation in Northwestern GreeceKitsos, G.; Petrou, Z.; Grigoriadou, M.; Samples, J. R.; Hewitt, A. W.; Kokotas, H.; Giannoulia-Karantana, A.; Mackey, D. A.; Wirtz, M. K.; Moschou, M.; Ioannidis, J. P.; Petersen, M. B.24-Nov-2015-
Pseudodominant inheritance of DFNB1 deafness due to the common 35delG mutationPampanos, A.; Neou, P.; Iliades, T.; Apostolopoulos, N.; Voyiatzis, N.; Grigoriadou, M.; Katsichti, L.; Skevas, A.; Petersen, M. B.24-Nov-2015-