Search Results - "Pampanos, A"

Recurrent copy number variations as risk factors for autism spectrum disorders: analysis of the clinical implications by Oikonomakis, V., Kosma, K., Mitrakos, A., Sofocleous, C., Pervanidou, P., Syrmou, A., Pampanos, A., Psoni, S., Fryssira, H., Kanavakis, E., Kitsiou-Tzeli, S., Tzetis, M.

“…Chromosomal microarray analysis (CMA) is currently considered a first‐tier diagnostic assay for the investigation of autism spectrum disorders (ASD),…”
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Association of repeat polymorphisms in the estrogen receptors alpha, beta ( ESR1 , ESR2 ) and androgen receptor ( AR ) genes with the occurrence of breast cancer by Tsezou, A, Tzetis, M, Gennatas, C, Giannatou, E, Pampanos, A, Malamis, G, Kanavakis, E, Kitsiou, S

“…Abstract Genetic variation in genes involved in estrogen biosynthesis, metabolism and signal transduction have been suggested to play a role in breast cancer…”
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Mutation analysis of the GJB2 (connexin 26) gene by DGGE in Greek patients with sensorineural deafness by Antoniadi, T., Grønskov, K., Sand, A., Pampanos, A., Brøndum-Nielsen, K., Petersen, M.B.

“…The GJB2 (connexin 26) gene, one of the major genes responsible for autosomal recessive deafness, has been investigated previously by a variety of techniques,…”
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Audiological profile of the prevalent genetic form of childhood sensorineural hearing loss due to GJB2 mutations in northern Greece by ILIADOU, V, ELEFTHERIADES, N, METAXAS, A. S, SKEVAS, A, KIRATZIDIS, T, PAMPANOS, A, VOYIATZIS, N, GRIGORIADOU, M, PETERSEN, M. B, ILIADES, T

“…The present study describes the audiological profile of genetic hearing loss resulting from GJB2 mutations in northern Greece, as this represents the most…”
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Complex rearrangements of chromosome 15 in two patients with mild/atypical Prader Willi syndrome by Salavoura, K, Kolialexi, A, Sofocleous, C, Kalaitzidaki, M, Pampanos, A, Kitsiou, S, Mavrou, A

“…Multiple mechanisms are responsible for the development of Prader Willi syndrome (PWS), the most common genetic cause of obesity in childhood. Molecular…”
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Pseudodominant inheritance of DFNB1 deafness due to the common 35delG mutation by Pampanos, A, Neou, P, Iliades, T, Apostolopoulos, N, Voyiatzis, N, Grigoriadou, M, Katsichti, L, Skevas, A, Petersen, Mb

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Prelingual nonsyndromic hearing loss in Greece. Molecular and clinical findings by 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, M B

“…Mutations in the gene encoding the gap-junction protein connexin 26 (GJB2) on chromosome 13q11 have been shown as a major contributor to prelingual,…”
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A substitution involving the NLGN4 gene associated with autistic behavior in the Greek population by Pampanos, Andreas, Volaki, Konstantina, Kanavakis, Emmanuel, Papandreou, Ourania, Youroukos, Sotiris, Thomaidis, Loretta, Karkelis, Savvas, Tzetis, Maria, Kitsiou-Tzeli, Sophia

“…Autism is a neurodevelopmental disorder characterized by clinical, etiologic, and genetic heterogeneity. During the last decade, predisposing genes and genetic…”
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Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients by WATTENHOFER, Marie, DI IORIO, Mario Vincenzo, D'AMELIO, Marcello, ALWAN, Sura, ROSSIER, Colette, DAHL, Hans-Henrik M, PETERSEN, Michael B, ESTIVILL, Xavier, GASPARINI, Paolo, SCOTT, Hamish S, ANTONARAKIS, Stylianos E, RABIONET, Raquel, DOUGHERTY, Loretta, PAMPANOS, Andreas, SCHWEDE, Torsten, MONTSERRAT-SENTIS, Barbara, ARBONES, Maria Lourdes, ILIADES, Theofilos, PASQUADIBISCEGLIE, Annamaria

“…Two loci for nonsyndromic recessive deafness located on chromosome 21q22.3 have previously been reported, DFNB8 and DFNB10. Recently a gene which encodes a…”
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Genetic polymorphisms in the UGT1A1 gene and breast cancer risk in Greek women by Tsezou, Aspasia, Tzetis, Maria, Giannatou, Eirini, Gennatas, Constantinos, Pampanos, Andreas, Kanavakis, Emmanuel, Kitsiou-Tzeli, Sofia

“…Uridine diphospho-glucuronosyltransferase 1 (UGT1A1) is involved in estradiol glucuronidation, which may play a central role in the etiology of breast cancer…”
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Prevalence of GJB2 mutations in prelingual deafness in the Greek population by 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

“…Objective: Mutations in the gene encoding the gap junction protein connexin 26 ( GJB2) have been shown as a major contributor to prelingual, sensorineural,…”
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Monogenic nonsyndromic otosclerosis: Audiological and linkage analysis in a large Greek pedigree by Iliadou, Vassiliki, Van Den Bogaert, Kris, Eleftheriades, Nikolaos, Aperis, George, Vanderstraeten, Kathleen, Fransen, Erik, Thys, Melissa, Grigoriadou, Maria, Pampanos, Andreas, Economides, John, Iliades, Theophilos, Van Camp, Guy, Petersen, Michael B.

“…The aim of our study was to characterize the hearing impairment in a large multigenerational Greek family with autosomal dominant nonsyndromic otosclerosis and…”
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Prenatal diagnosis of prelingual deafness: carrier testing and prenatal diagnosis of the common GJB2 35delG mutation by Antoniadi, Thalia, Pampanos, Andreas, Petersen, Michael B.

“…Mutations in the gene encoding the gap‐junction protein connexin 26 (GJB2) on chromosome 13q11 (DFNB1 locus) have been shown as a major contributor to…”
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