Search Results - "Giannoulia, Aglaia"

Are GJB2 mutations an aggravating factor in the phenotypic expression of mitochondrial non-syndromic deafness? by Kokotas, Haris, Grigoriadou, Maria, Korres, George S, Ferekidou, Elisabeth, Giannoulia-Karantana, Aglaia, Kandiloros, Dimitrios, Korres, Stavros, Petersen, Michael B

“…Hearing impairment is a frequent condition, and genes have an important role in its etiology. The majority of hearing loss occurs in non-syndromic form, with…”
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Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia by Konstantinidou, Anastasia, Karadimas, Charalampos, Waterham, Hans R., Superti-Furga, Andrea, Kaminopetros, Petros, Grigoriadou, Maria, Kokotas, Haris, Agrogiannis, George, Giannoulia-Karantana, Aglaia, Patsouris, Efstratios, Petersen, Michael B.

“…Background Greenberg skeletal dysplasia is a very rare, autosomal recessive, in utero, lethal chondrodystrophy for which only eight index cases of diverse…”
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Strong linkage disequilibrium for the frequent GJB2 35delG mutation in the Greek population by Kokotas, Haris, Van Laer, Lut, Grigoriadou, Maria, Iliadou, Vassiliki, Economides, John, Pomoni, Stella, Pampanos, Andreas, Eleftheriades, Nikos, Ferekidou, Elisabeth, Korres, Stavros, Giannoulia-Karantana, Aglaia, Van Camp, Guy, Petersen, Michael B.

“…Approximately one in 1,000 children is affected by severe or profound hearing loss at birth or during early childhood (prelingual deafness). Up to 40% of…”
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Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population by Bugiani, Marianna, Gyftodimou, Yolanda, Tsimpouka, Paraskevi, Lamantea, Eleonora, Katzaki, Eleni, d'Adamo, Pio, Nakou, Sheena, Georgoudi, Nelli, Grigoriadou, Maria, Tsina, Efthymia, Kabolis, Nikolaos, Milani, Donatella, Pandelia, Efthimia, Kokotas, Haris, Gasparini, Paolo, Giannoulia-Karantana, Aglaia, Renieri, Alessandra, Zeviani, Massimo, Petersen, Michael B.

“…Cohen syndrome, caused by mutations in the COH1 gene, is an autosomal recessive disorder consisting of mental retardation, microcephaly, growth delay, severe…”
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Early effects of sodium valproate monotherapy on serum paraoxonase arylesterase activities by Karikas, George A., Schulpis, Kleopatra H., Bartzeliotou, Anastasia, Regoutas, Spyros, Thanopoulou, Christina, Papaevangelou, Vassiliki, Giannoulia-Karantana, Aglaia, Papassotiriou, Ioannis, Fytou-Pallikari, Athena

“…Objective. Valproic acid (VPA) treatment and paraoxonase1 arylesterase (PON1 Aryl) activities are related to the production of free radicals. Our aim was to…”
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Magnetic resonance angiography, function and viability evaluation in patients with Kawasaki disease by Mavrogeni, Sophie, Papadopoulos, George, Douskou, Marouso, Kaklis, Savas, Seimenis, Ioannis, Varlamis, George, Karanasios, Evangelos, Krikos, Xenofon, Giannoulia, Aglaia, Cokkinos, Dennis V

“…We evaluated the ability of magnetic resonance imaging to perform a noninvasive assessment of coronary arteries, function and viability in one examination in a…”
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Screening for Congenital Hypothyroidism: The Significance of Threshold Limit in False-Negative Results by Mengreli, Chryssanthi, Kanaka-Gantenbein, Christina, Girginoudis, Panagiotis, Magiakou, Maria-Alexandra, Christakopoulou, Ioulia, Giannoulia-Karantana, Aglaia, Chrousos, George P., Dacou-Voutetakis, Catherine

“…Context: In our neonatal program, a number of infants with congenital hypothyroidism (CH) had escaped diagnosis, when a spot RIA-TSH value of 20 mU/liter whole…”
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Serum Copper and Zinc Levels in Healthy Greek Children and Their Parents by Voskaki, Irene, Arvanitidou, Vasiliki, Athanasopoulou, Helen, Tzagkaraki, Angeliki, Tripsianis, Gregory, Giannoulia-Karantana, Aglaia

“…The aim of this study was to investigate whether there is a correlation between copper (Cu) and zinc (Zn) levels in children and their parents, considering…”
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The A1555G mitochondrial DNA mutation in Greek patients with non-syndromic, sensorineural hearing loss by Kokotas, Haris, Grigoriadou, Maria, Korres, George S., Ferekidou, Elisabeth, Papadopoulou, Eleftheria, Neou, Polyxene, Giannoulia-Karantana, Aglaia, Kandiloros, Dimitrios, Korres, Stavros, Petersen, Michael B.

“…Mitochondrial DNA mutations are undoubtedly a factor that contributes to sensorineural, non-syndromic deafness. One specific mutation, the A1555G, is…”
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Assessment of megakaryopoiesis in children with acute lymphoblastic leukemia by Kalmanti, Maria, Stiakaki, Eftichia, Mantadakis, Elpis, Martimianaki, Georgia, Giannoulia, Aglaia, Kalmonti, Lida, Dimitriou, Helen

“…The effect of the underlying disease and chemotherapy on megakaryopoiesis has not been extensively studied in children with acute lymphoblastic leukemia (ALL)…”
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Investigating the impact of the Down syndrome related common MTHFR 677C>T polymorphism in the Danish population by Kokotas, Haris, Grigoriadou, Maria, Mikkelsen, Margareta, Giannoulia-Karantana, Aglaia, Petersen, Michael B

“…Chromosomal aneuploidy consists the leading cause of fetal death in our species. Around 50% of spontaneous abortions until 15 weeks of gestational age are…”
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Investigating the Impact of the Down Syndrome Related Common MTHFR 677C>T Polymorphism in the Danish Population by Kokotas, Haris, Grigoriadou, Maria, Mikkelsen, Margareta, Giannoulia-Karantana, Aglaia, Petersen, Michael B.

“…Chromosomal aneuploidy consists the leading cause of fetal death in our species. Around 50% of spontaneous abortions until 15 weeks of gestational age are…”
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Melatonin and immunomodulation: connections and potential clinical applications by Giannoulia-Karantana, Aglaia, Vlachou, Antonia, Polychronopoulou, Sophia, Papassotiriou, Ioannis, Chrousos, George P

“…Melatonin is the main hormone secreted by the pineal gland in the human brain. It has a strong impact on the sleep-wake cycle and is considered a general…”
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The effect of aspartame metabolites on human erythrocyte membrane acetylcholinesterase activity by Tsakiris, Stylianos, Giannoulia-Karantana, Aglaia, Simintzi, Irene, Schulpis, Kleopatra H.

“…Studies have implicated aspartame (ASP) with neurological problems. The aim of this study was to evaluate acetylcholinesterase (AChE) activity in human…”
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Sudden hearing loss in a family with GJB2 related progressive deafness by Kokotas, Haris, Theodosiou, Maria, Korres, George, Grigoriadou, Maria, Ferekidou, Elisabeth, Giannoulia-Karantana, Aglaia, Petersen, Michael B, Korres, Stavros

“…Summary Mutations of GJB2 , the gene encoding connexin 26, have been associated with prelingual, sensorineural hearing loss of mild to profound severity. One…”
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Hypothesizing an ancient Greek origin of the GJB2 35delG mutation: can science meet history? by Kokotas, Haris, Grigoriadou, Maria, Villamar, Manuela, Giannoulia-Karantana, Aglaia, del Castillo, Ignacio, Petersen, Michael B

“…One specific mutation of the GJB2 gene that encodes the connexin 26 protein, the 35delG mutation, has become a major interest among scientists who focus on the…”
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Easy, rapid, and cost-effective methods for identifying carriers of recurrent GJB2 mutations causing nonsyndromic hearing impairment in the Greek population by Kokotas, Haris, Grigoriadou, Maria, Hatzaki, Angeliki, Antoniadi, Thalia, Giannoulia-Karantana, Aglaia, Petersen, Michael B

“…A variety of techniques have been developed for screening the GJB2 gene for known and unknown mutations, especially the most common mutation in the Caucasian…”
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Primary open angle glaucoma due to T377M MYOC: Population mapping of a Greek founder mutation in Northwestern Greece by Kitsos, George, Petrou, Zacharias, Grigoriadou, Maria, Samples, John R, Hewitt, Alex W, Kokotas, Haris, Giannoulia-Karantana, Aglaia, Mackey, David A, Wirtz, Mary K, Moschou, Marilita, Ioannidis, John P A, Petersen, Michael B

“…Mutations in the MYOC gene have been shown to explain 5% of unrelated primary open angle glaucoma (POAG) in different populations. In particular, the T377M…”
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Erythrocyte membrane Na+,K+-ATPase and Mg2+-ATPase activities in subjects with methylenetetrahydrofolate reductase (MTHFR) 677 C-->T genotype and moderate hyperhomocysteinaemia. The role of L-phenylalanine and L-alanine by Schulpis, Kleopatra H, Giannoulia-Karantana, Aglaia, Papaconstantinou, Evangelos D, Parthimos, Theodore, Tjamouranis, Ioanna, Tsakiris, Stylianos

“…Increased homocysteine (Hcy) blood levels are correlated with vascular and neurological problems. The aim of our study was to investigate erythrocyte membrane…”
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Low vitamin D status in preschool children in Greece by Nicolaidou, Polyxeni, Kakourou, Talia, Papadopoulou, Anna, Kavadias, Georges, Dimitriou, Elizabeth, Georgouli, Helen, Tsapra, Helen, Giannoulia-Karantana, Aglaia, Fretzayas, Andreas, Tsiftis, Georges, Bakoula, Chryssa

“…Vitamin D status in humans depends on the amount of sun exposure and vitamin D intake. Recent reports suggest that hypovitaminosis D (as defined by serum…”
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