Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Angeliki Hatzaki"'
Autor:
Vassiliki Aleporou, Despina Apostolopoulou, Kanaris P. Panagopoulos, Alexander Stratoudakis, Olga S. Kaxira, Konstantinos Alexandrou, Angeliki Hatzaki, Panagoula Kollia
Publikováno v:
The Cleft Palate-Craniofacial Journal. 55:1092-1102
Introduction: Craniosynostosis, the premature fusion of cranial sutures, is usually divided into 2 major categories: syndromic and nonsyndromic. Mutations in the FGFR1, FGFR2, FGFR3, TWIST1, and EFNB1 genes cause the common craniosynostosis syndromes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e347538aa6cdc28dbd1aa3981f328a9c
https://doi.org/10.1177/1055665618760412
https://doi.org/10.1177/1055665618760412
Autor:
Despina, Apostolopoulou, Olga S, Kaxira, Angeliki, Hatzaki, Kanaris P, Panagopoulos, Konstantinos, Alexandrou, Alexander, Stratoudakis, Panagoula, Kollia, Vassiliki, Aleporou
Publikováno v:
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association. 55(8)
Craniosynostosis, the premature fusion of cranial sutures, is usually divided into 2 major categories: syndromic and nonsyndromic. Mutations in theThe aim of this study is to investigate the underlying genetic cause in 46 patients with syndromic or n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2731a83cbac8c8c19eeae60cfeec980e
https://pubmed.ncbi.nlm.nih.gov/29561715
https://pubmed.ncbi.nlm.nih.gov/29561715
Autor:
Alexander Stratoudakis, Kanaris P. Panagopoulos, Olga S. Kaxira, Panagoula Kollia, Vassiliki Aleporou, Angeliki Hatzaki, Despina Apostolopoulou
Publikováno v:
The Cleft Palate-Craniofacial Journal. 49:109-113
Craniofrontonasal syndrome is mainly characterized by frontonasal dysplasia, telorbitism, a broad nasal root, and frequently a bifid nose and coronal craniosynostosis. Craniofrontonasal syndrome is an X-linked disorder with an unusual pattern of inhe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74058e4dad09f96ab27cfa00a902bdda
https://doi.org/10.1597/10-247
https://doi.org/10.1597/10-247
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36492030a4304c84a8d957c166beb6af
https://doi.org/10.1089/gtmb.2009.0136
https://doi.org/10.1089/gtmb.2009.0136
Autor:
Nikolaos Papantoniou, P. Kaminopetros, Georgios Agrogiannis, Apostolos H. Karantanas, Michael B. Petersen, Charalampos Karadimas, Aristeidis Antsaklis, Stavros Sifakis, Vassileios Harakoglou, V. Velissariou, Anastasia E. Konstantinidou, Angeliki Hatzaki, Stylianos Velonis, Efstratios Patsouris
Publikováno v:
Birth Defects Research Part A: Clinical and Molecular Teratology. 85:811-821
BACKGROUND: Genetic skeletal disorders of the fetus and infant are a large group of genetic disorders, comprising the groups formerly assigned as skeletal dysplasias (osteochondrodysplasias), dysostoses, and malformation syndromes with a skeletal com
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fd96d78e976b9f2f675c6a5811e015e
https://doi.org/10.1002/bdra.20617
https://doi.org/10.1002/bdra.20617
Autor:
Klea Lamnissou, Lina Florentin-Arar, Evdokia Tsaliki, Angeliki Hatzaki, Sophia Papadopoulou, Evmorphia Konstantakou, Maria Karvela
Publikováno v:
Archives of Gynecology and Obstetrics. 278:349-352
The risk of miscarriage is enhanced by a variety of genetic and environmental factors. Previous studies indicated an association between endothelial nitric oxide synthase (eNOS) activity, and implantation and maintenance of pregnancy, but it is rathe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bc180d6d7a02edb8ff7e9487c2662a3
https://doi.org/10.1007/s00404-008-0577-8
https://doi.org/10.1007/s00404-008-0577-8
Prenatal diagnosis of achondroplasia presenting with multiple-suture synostosis: a novel association
Autor:
Thalia Antoniadi, Constantinos Makatsoris, Angeliki Hatzaki, George Haritatos, Voula Velissariou, Dimitrios Trouvas, Evangelos Dedoulis, Charalampos Karadimas, Michael B. Petersen
Publikováno v:
Prenatal Diagnosis. 26:258-261
Objective We report an atypical case of a fetus presenting with a combined achondroplasia and multiple craniosynostosis phenotype. Methods Sonographic monitoring in conjunction with molecular genetic analysis was performed in a 32-gestational weeks f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be6536680e20d3f0a23a8171416078ad
https://doi.org/10.1002/pd.1392
https://doi.org/10.1002/pd.1392
Autor:
Michael B. Petersen, Charalampos Karadimas, Angeliki Hatzaki, Constantinos Makatsoris, G. Nasioulas, V. Velissariou, Eugenios Koumantakis, P. Valsamopoulos, Stavros Sifakis
Publikováno v:
American Journal of Medical Genetics Part A. :998-1003
Hypochondroplasia (HCH) is an autosomal dominant skeletal dysplasia characterized by short extremities, short stature and lumbar lordosis, usually exhibiting a phenotype similar to but milder than achondroplasia (ACH). Mutations in the fibroblast gro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab9e49759b689f449abb3d77ea1555de
https://doi.org/10.1002/ajmg.a.31177
https://doi.org/10.1002/ajmg.a.31177
Autor:
Charalambos Karadimas, Perikles Theodoropoulos, Apostolos Sideris, Lina Florentin, V. Velissariou, Angeliki Hatzaki, Apostolos Athanassiadis, Emmanouil Tzortzis, Anastasia E. Konstantinidou, Despina Apostolopoulou, Constantinos Makatsoris, Stavros Sifakis, Dimitra Kappou, Dimitra Bouzarelou
Publikováno v:
American journal of medical genetics. Part A. (10)
Fibroblast Growth Factor Receptor 3 (FGFR3) related skeletal dysplasias are caused by mutations in the FGFR3 gene that result in increased activation of the receptors causing alterations in the process of endochondral ossification in all long bones,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a4e381aae2710ccbeba58296834665b
https://pubmed.ncbi.nlm.nih.gov/21910223
https://pubmed.ncbi.nlm.nih.gov/21910223
Autor:
A. Skevas, John Economides, Irene Konstantopoulou, Nikolaos Eleftheriades, Paulos Leotsakos, Nikolaos Voyiatzis, Andreas Pampanos, Michael Tsakanikos, Karen Grønskov, Vassiliki Iliadou, Thalia Antoniadi, Karen Brøndum-Nielsen, Angeliki Hatzaki, Maria Grigoriadou, Drakoulis Yannoukakos, Polyxeni Neou, Jolanda Gyftodimou, Michael B. Petersen, T. Iliades
Publikováno v:
International journal of pediatric otorhinolaryngology. 65(2)
OBJECTIVE: Mutations in the gene encoding the gap junction protein connexin 26 (GJB2) have been shown as a major contributor to prelingual, sensorineural, nonsyndromic, recessive deafness. One specific mutation, 35delG, has accounted for the majority
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60b07fd1446a11c3bc2f18c981317237
https://pubmed.ncbi.nlm.nih.gov/12176179
https://pubmed.ncbi.nlm.nih.gov/12176179