Search Results - "Kokotas, Haris"

Molecular technology vs clinical practice: a hypothesis in genetics by Kokotas, Haris

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SLITRK6 mutations cause myopia and deafness in humans and mice by Tekin, Mustafa, Chioza, Barry A, Matsumoto, Yoshifumi, Diaz-Horta, Oscar, Cross, Harold E, Duman, Duygu, Kokotas, Haris, Moore-Barton, Heather L, Sakoori, Kazuto, Ota, Maya, Odaka, Yuri S, Foster, 2nd, Joseph, Cengiz, F Basak, Tokgoz-Yilmaz, Suna, Tekeli, Oya, Grigoriadou, Maria, Petersen, Michael B, Sreekantan-Nair, Ajith, Gurtz, Kay, Xia, Xia-Juan, Pandya, Arti, Patton, Michael A, Young, Juan I, Aruga, Jun, Crosby, Andrew H

“…Myopia is by far the most common human eye disorder that is known to have a clear, albeit poorly defined, heritable component. In this study, we describe an…”
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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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Prenatal diagnosis of glycogen storage disease type IV by Akman, H. Orhan, Karadimas, Charalampos, Gyftodimou, Yolanda, Grigoriadou, Maria, Kokotas, Haris, Konstantinidou, Anastasia, Anninos, Hector, Patsouris, Efstratios, Thaker, Harshwardhan M., Kaplan, Jeffrey B., Besharat, Isaam, Hatzikonstantinou, Konstantina, Fotopoulos, Spyridon, DiMauro, Salvatore, Petersen, Michael B.

“…Background Glycogen storage disease type IV (GSD‐IV) is a rare autosomal recessive disorder due to mutations in the GBE1 gene causing deficiency of the…”
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Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy by Manolakos, Emmanouil, Sarri, Catherine, Vetro, Annalisa, Kefalas, Konstantinos, Leze, Eleni, Sofocleus, Christalena, Kitsos, George, Merou, Konstantina, Kokotas, Haris, Papadopoulou, Anna, Attilakos, Achilleas, Petersen, Michael B, Kitsiou-Tzeli, Sofia

“…Deletions of chromosome 22q11 are present in over 90% of cases of DiGeorge or Velo-Cardio-Facial syndrome (DGS/VCFS). 15q11-q13 duplication is another…”
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Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy by Manolakos, Emmanouil, Sarri, Catherine, Vetro, Annalisa, Kefalas, Konstantinos, Leze, Eleni, Sofocleus, Christalena, Kitsos, George, Merou, Konstantina, Kokotas, Haris, Papadopoulou, Anna, Attilakos, Achilleas, Petersen, Michael B, Kitsiou-Tzeli, Sofia

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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 report by Manolakos, Emmanouil, Kosyakova, Nadezda, Thomaidis, Loreta, Neroutsou, Rozita, Weise, Anja, Mihalatos, Markos, Orru, Sandro, Kokotas, Haris, Kitsos, George, Liehr, Thomas, Petersen, Michael B

“…We report on a 7 years and 4 months old Greek boy with mild microcephaly and dysmorphic facial features. He was a sociable child with maxillary hypoplasia,…”
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Age-related macular degeneration: genetic and clinical findings by Kokotas, Haris, Grigoriadou, Maria, Petersen, Michael B

“…Age-related macular degeneration (AMD) is a sight threatening eye disease that affects millions of humans over the age of 65 years. It is considered to be the…”
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Biomarkers in primary open angle glaucoma by Kokotas, Haris, Kroupis, Christos, Chiras, Dimitrios, Grigoriadou, Maria, Lamnissou, Klea, Petersen, Michael B, Kitsos, George

“…Glaucoma, a leading cause of blindness worldwide, is currently defined as a disturbance of the structural or functional integrity of the optic nerve that…”
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A Truncating Mutation in SERPINB6 Is Associated with Autosomal-Recessive Nonsyndromic Sensorineural Hearing Loss by Sırmacı, Aslı, Erbek, Seyra, Price, Justin, Huang, Mingqian, Duman, Duygu, Cengiz, F. Başak, Bademci, Güney, Tokgöz-Yılmaz, Suna, Hişmi, Burcu, Özdağ, Hilal, Öztürk, Banu, Kulaksızoğlu, Sevsen, Yıldırım, Erkan, Kokotas, Haris, Grigoriadou, Maria, Petersen, Michael B., Shahin, Hashem, Kanaan, Moien, King, Mary-Claire, Chen, Zheng-Yi, Blanton, Susan H., Liu, Xue Z., Zuchner, Stephan, Akar, Nejat, Tekin, Mustafa

“…More than 270 million people worldwide have hearing loss that affects normal communication. Although astonishing progress has been made in the identification…”
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Compound heterozygosity of the novel c.292C > T (p.R98W) and the c.35delG GJB2 mutations in postlingual, non-syndromic, sensorineural deafness by Petersen, Michael B, Grigoriadou, Maria, Economides, John, Kokotas, Haris

“…Abstract Objectives Connexins (Cxs) are membrane-spanning proteins that co-assemble into intercellular gap junction channels. Gap junction channels mediate…”
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The novel c.247_249delTTC (p.F83del) GJB2 mutation in a family with prelingual sensorineural deafness by Petersen, Michael B, Grigoriadou, Maria, Koutroumpe, Maria, Kokotas, Haris

“…Abstract Non-syndromic hearing loss is one of the most common hereditary determined diseases in human, and the disease is a genetically heterogeneous disorder…”
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Development of novel LOXL1 genotyping method and evaluation of LOXL1, APOE and MTHFR polymorphisms in exfoliation syndrome/glaucoma in a Greek population by Chiras, Dimitrios, Tzika, Konstantina, Kokotas, Haris, Oliveira, Samantha C, Grigoriadou, Maria, Kastania, Anastasia, Dima, Kleanthi, Stefaniotou, Maria, Aspiotis, Miltiadis, Petersen, Michael B, Kroupis, Christos, Kitsos, George

“…In the Greek population of Epirus, exfoliation syndrome (XFS) and exfoliation glaucoma (XFG) occur at a high prevalence. In this study, we validate a novel…”
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Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearing by Naranjo, Silvia, Voesenek, Krysta, de la Calle-Mustienes, Elisa, Robert-Moreno, Alex, Kokotas, Haris, Grigoriadou, Maria, Economides, John, Van Camp, Guy, Hilgert, Nele, Moreno, Felipe, Alsina, Berta, Petersen, Michael B, Kremer, Hannie, Gómez-Skarmeta, José Luis

“…POU3F4 encodes a POU-domain transcription factor required for inner ear development. Defects in POU3F4 function are associated with X-linked deafness type 3…”
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Erythrokeratodermia variabilis: Report of two cases and a novel missense variant in GJB4 encoding connexin 30.3 by KOKOTAS, Haris, PAPAGIANNAKI, Konstantina, GRIGORIADOU, Maria, PETERSEN, Michael B, KATSAROU, Alexandra

“…Erythrokeratodermia variabilis (EKV) is characterized by migrating red patches resembling a geographical map, and by localized or generalized hyperkeratosis…”
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35-Year Follow-Up of a Case of Ring Chromosome 2: Array-CGH Analysis and Literature Review of the Ring Syndrome by Sarri, Catherine, Douzgou, Sofia, Kontos, Haris, Anagnostopoulou, Katherine, Tümer, Zeynep, Grigoriadou, Maria, Petersen, Michael B, Kokotas, Haris, Merou, Konstantina, Pandelia, Efi, Giouroukou, Elena, Papanikolaou, Katerina, Côté, Gilbert B, Gyftodimou, Yolanda

“…Côté et al. [1981] suggested that ring chromosomes with or without deletions share a common pattern of phenotypic anomalies, regardless of which chromosome is…”
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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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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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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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