Zobrazeno 1 - 10
of 35
pro vyhledávání: '"Haris Kokotas"'
Autor:
Konstantina Merou, Katherine Anagnostopoulou, Michael B. Petersen, Zeynep Tümer, Efi Pandelia, Yolanda Gyftodimou, Catherine Sarri, Haris Kontos, Sofia Douzgou, Elena Giouroukou, Katerina Papanikolaou, Gilbert B. Côté, Maria Grigoriadou, Haris Kokotas
Publikováno v:
Cytogenetic and Genome Research. 145:6-13
Côté et al. [1981] suggested that ring chromosomes with or without deletions share a common pattern of phenotypic anomalies, regardless of which chromosome is involved. The phenotype of this ‘general ring syndrome' consists of growth failure with
Autor:
Theologia Sarafidou, Virginia Theodorou, Catherine Sarri, Georgia Karadima, Kirstine Ravn, Yolanda Gyftodimou, Nicholas K. Moschonas, Effie Pandelia, Angela Pasparaki, Haris Kokotas, Sofia Douzgou, Harry Kontos, Zeynep Tümer, Maria Grigoriadou, Michael B. Petersen
Publikováno v:
American Journal of Medical Genetics Part A. 155:2841-2854
We report on an intellectually disabled girl with a de novo satellited chromosome 10 (10qs) and performed a review of the literature of the non-acrocentric satellited chromosomes (NASC). Satellites and stalks normally occur on the short arms of acroc
Autor:
Lisbeth Tranebjærg, Marianne Lodahl, Maria Grigoriadou, Min-Xin Guan, Stavros Korres, Dimitrios Kandiloros, Michael B. Petersen, Elisabeth Ferekidou, Li Yang, Nanna Dahl Rendtorff, Yolanda Gyftodimou, Haris Kokotas, George S. Korres
Publikováno v:
International Journal of Pediatric Otorhinolaryngology. 75:89-94
Objective Mitochondrial mutations have been shown to be responsible for syndromic as well as non-syndromic hearing loss. The G7444A mitochondrial DNA mutation affects COI/the precursor of tRNA Ser(UCN) , encoding the first subunit of cytochrome oxida
Autor:
Àlex Robert-Moreno, Krysta Voesenek, Silvia Naranjo, José Luis Gómez-Skarmeta, Hannie Kremer, John Economides, Elisa de la Calle-Mustienes, Berta Alsina, Haris Kokotas, Maria Grigoriadou, Nele Hilgert, Guy Van Camp, Michael B. Petersen, Felipe Moreno
Publikováno v:
Human Genetics
Human Genetics, 128, 411-9
Human Genetics, 128, 4, pp. 411-9
Digital.CSIC. Repositorio Institucional del CSIC
instname
Recercat. Dipósit de la Recerca de Catalunya
Human genetics
Human Genetics, 128, 411-9
Human Genetics, 128, 4, pp. 411-9
Digital.CSIC. Repositorio Institucional del CSIC
instname
Recercat. Dipósit de la Recerca de Catalunya
Human genetics
9 páginas, 4 figuras.-- This article is distributed under the terms of the Creative Commons Attribution Noncommercial License.-- et al.
POU3F4 encodes a POU-domain transcription factor required for inner ear development. Defects in POU3F4 funct
POU3F4 encodes a POU-domain transcription factor required for inner ear development. Defects in POU3F4 funct
Autor:
Duygu Duman, Justin Price, Xue Zhong Liu, Burcu Ozturk Hismi, Moien Kanaan, Zheng-Yi Chen, Mingqian Huang, Sevsen Kulaksizoglu, Hashem Shahin, Hilal Özdağ, Guney Bademci, Seyra Erbek, F. Basak Cengiz, Maria Grigoriadou, Mustafa Tekin, Suna Tokgoz-Yilmaz, Susan H. Blanton, Stephan Züchner, Nejat Akar, Erkan Yildirim, Asli Sirmaci, Mary Claire King, Banu Ozturk, Haris Kokotas, Michael B. Petersen
Publikováno v:
The American Journal of Human Genetics. 86:797-804
WOS: 000278045300016
PubMed: 20451170
More than 270 million people worldwide have hearing loss that affects normal communication. Although astonishing progress has been made in the identification of more than 50 genes for deafness during th
PubMed: 20451170
More than 270 million people worldwide have hearing loss that affects normal communication. Although astonishing progress has been made in the identification of more than 50 genes for deafness during th
Autor:
Michael B. Petersen, Manuela Villamar, Maria Grigoriadou, Ignacio del Castillo, Haris Kokotas, Aglaia Giannoulia-Karantana
Publikováno v:
Genetic Testing and Molecular Biomarkers. 14:183-187
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 genetics of nonsyndromic hearing loss. The mutation accounts for the majority of GJB2 muta
Autor:
Aglaia Giannoulia-Karantana, Haris Kokotas, Thalia Antoniadi, Maria Grigoriadou, Angeliki Hatzaki, Michael B. Petersen
Publikováno v:
Genetic Testing and Molecular Biomarkers. 14:189-192
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 population, the c.35delG. Other mutations that have been so far characterized in the GJB2 ge
Autor:
Stavros Korres, Michael B. Petersen, Maria Grigoriadou, Aglaia Giannoulia-Karantana, Elisabeth Ferekidou, George S. Korres, Dimitrios Kandiloros, Haris Kokotas
Publikováno v:
Journal of Human Genetics. 55:265-269
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 deafness being the only clinically recognizable feature. More than 60 nuclear genes or loci
Autor:
Catherine Sarri, Michael B. Petersen, Haris Kokotas, Katerina Papanikolaou, John Tsiantis, Yolanda Gyftodimou, Gerasimos Kolaitis, Elena Paliokosta
Publikováno v:
Advances in Mental Health and Learning Disabilities. 3:48-52
We describe a 13 1/2‐year‐old boy with de novo inverted interstitial duplication 8q22.1‐q21.1 associated with mild phenotypic abnormalities, learning disabilities and autism. Psychometric and psychiatric evaluation was performed. Clinical genet
Autor:
Haris Kokotas, Maria Grigoriadou, Margareta Mikkelsen, Aglaia Giannoulia-Karantana, Michael B. Petersen
Publikováno v:
Disease Markers. 27:279-285
Chromosomal aneuploidy consists the leading cause of fetal death in our species. Around 50% of spontaneous abortions until 15 weeks of gestational age are chromosomally aneuploid, with trisomies accounting for 50% of the abnormal abortions. Trisomy 2