Location: 3rd Department of Pediatrics, University General Hospital Attikon, 2nd floor
Tel: +302105832228, 1296
Anna Papadopoulou Biochemist-Molecular Biologist, DEA, PhD
The Research Laboratory of our Clinic is a non–profit laboratory at the Medical School of the University of Athens. Established in 2007, the Research Laboratory is dedicated to serve patients, physicians, and other members of the medical and research community in Attikon as well as in other hospitals in Greece. The Research Laboratory has a focus on rare genetic diseases for which testing is not readily available elsewhere. Full gene sequencing and other mutation detection methods has been set up for disease-related genes, such as VDR, CYP27B1, CaSR, LRP5, NPC1 & 2, PTPN11, FGF23, UGT1A1 etc. The Laboratory also provides a service of mutation confirmation in patients whose mutations have been identified in a research protocol and subsequent testing of family members for the particular familial mutation.
The main interest of the laboratory is in the research of rare genetic diseases, such as hereditary rickets (Hypocalcemic Vitamin D Resistant Rickets, Vitamin D-dependent rickets type I, Hereditary hypophosphatemic rickets with hypercalciuria), Noonan syndrome, Niemann Pick type C. To this end the Research Laboratory works closely with research groups in Greece and abroad, such as the Department of Medical Genetics, University of Athens; Service de Genetique Moleculaire et Clinique, Hopital Edouard Herriot, Lyon, France; Service de Biochimie et Genetique Moleculaire, Centre Hospitalier Universitaire de Limoges, France, Institute of Biology, Medicinal Chemistry & Biotechnology, National Hellenic Research Foundation, Athens, Greece; Institute of Biomedical Research, A. Fleming, Athens, Greece.
In line with its teaching and research duties as a university lab, the research lab of the Clinic hostes and educates PhD candidates that can combine research training in molecular genetics with their medical studies
Selective papers published in peer reviewed journals
- Papadopoulou A, Gole E, Moutafi A, Sfikas C, Oehrl W, Samiotaki M, Papadimitriou A, Papaevagelou V, Nicolaidou P.Calcium sensing receptor in pregnancies complicated by gestational diabetes mellitus Placenta. 2014 [Epub ahead of print]
- Papadopoulou A., Bountouvi E., Gole E., Doulgeraki A., Tournis S., Papadimitriou A., Nicolaidou P.Identification of a novel nonsense mutation in the ligand binding domain of the vitamin D receptor gene and clinical description of two Greek patients with hereditary vitamin D resistant rickets and alopecia. Hormone Research 2014 (accepted)
- Marakaki C., Papadimitriou DT, Papadopoulou A, Fretzayas A, Papadimitriou A. L-Dopa is a potent stimulator of cortisol in short children. Horm Res Paediatr. 2014 May 1.
- Kolokotroni O, Papadopoulou A, Yiallouros PK, Raftopoulos V, Kouta C, Lamnisos D, Nicolaidou P, Middleton N. Association of vitamin D with adiposity measures and other determinants in a cross-sectional study of Cypriot adolescents.Public Health Nutr. 2014 Jan 17:1-10.
- Papadopoulou A, Gole E, Nicolaidou P. Hereditary rickets. How genetic alterations explain the biochemical and clinical phenotypes. Endocr Metab Immune Disord Drug Targets. 2013 Dec;13(4):324-34.
- Fretzayas A, Gole E, Attilakos A, Daskalaki A, Nicolaidou P, Papadopoulou A. Expanding the spectrum of genetic mutations in antenatal Bartter syndrome type II.Pediatr Int. 2013 Jun;55(3):371-3.
- Fretzayas A, Liapi O, Papadopoulou A, Nicolaidou P, Stamoulakatou A Is Ceftriaxone-Induced Biliary Pseudolithiasis Influenced by UDP-Glucuronosyltransferase 1A1 Gene Polymorphisms?Case Report Med. 2011;2011:730250.
- Papadopoulou A, Issakidis M, Gole E, Kosma K, Fryssira H, Fretzayas A, Nicolaidou P, Kitsiou-Tzeli S Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment.Eur J Pediatr. 2012 Jan;171(1):51-8.
- Dinopoulos A, Papadopoulou A, Manta P, Kekou K, Kanelopoulos T, Fretzayas A, Kitsiou S. “Coinheritance of Noonan syndrome and Becker muscular dystrophy”. Neuromuscul Disord. 2010; 20(1):61-3.
- Avgeri, M., Papadopoulou A,Platokouki H, Douros K, Rammos S,Nicolaidou P, Aronis S. “Assessment of bone mineral density and markers of bone turnover in children under long-term oral anticoagulant therapy.” J Pediatr Hematol Oncol. 2008;30(8):592-7.
- Moschovi M, Touliatou V, Papadopoulou A, Mayakou MA, Nikolaidou-Karpathiou P, Kitsiou-Tzeli S “Rhabdomyosarcoma in a patient with Noonan syndrome phenotype and review of the literature”. JPediatrHematolOncol. 2007; 29(5):341-4.
- Nicolaidou P, Tsitsika A, Georgouli H,Karantana A, Papadopoulou A, Psychou F, Liakopoulou D, Tsapra H, Tsivitanidou T, Sertedaki A, Chrousos G. “Hereditary Vitamin D resistant rickets: Phenotype, long-term response to treatment and genetics in Greece.” J Pediatr Endocrinol Metab. 2007; 20:425-30
- Nicolaidou P., Stavrinadis I., Loukou I, Papadopoulou A, Georgouli H, Douros K, Gourgiotis d, Matsinos YG, Doudounakis S. “The effect of vitamin K supplementation on biochemical markers of bone formation in children and adolescents with cystic fibrosis.” Eur J Pediatr. 2006; 165:540-545.
- Nicolaidou P, Hatzistamatiou Z, Papadopoulou A, Kaleyias J, Floropoulou E, Lagona E, Tsagris V, Costalos C, Antsaklis A. “Low Vitamin D status in mother-newborn pairs in Greece.” Calcif Tiss Int, 2006; 78:337-42.
- Kitsiou-Tzeli S, Papadopoulou A, Kanaka-Gantenbein C, Fretzayas A, Daskalopoulos D, Kanavakis E, Nicolaidou P. “Does the rare A172G mutation of PTPN11 gene conveys a mild Noonan syndrome phenotype?” Horm Res 2006; 66:124-31.
- Nicolaidou P, Papadopoulou A, Matsinos Y. G, Georgouli H, Fretzayas A, Papadimitriou A, Priftis K, Douros K, Chrousos GP. “Vitamin D Receptor Polymorphisms in Hypocalcemic Vitamin D Resistant Rickets Carriers” Horm Res; 67:179-31.
- Nicolaidou P., Papadopoulou A., Georgouli H., Matsinos Y., Tsapra H., Fretzayas A., Giannoulia-Karantana A., Kitsiou S., Douros K., Papassotiriou I., Chrousos G.. “Calcium and vitamin D metabolism in hypocalcemic vitamin D-resistant rickets carriers.” Horm Res. 2006 19;65:83-88.
- Nicolaidou P. and Papadopoulou A. “Idiopathic Hypercalciuria in children.” Curr Pediatric Reviews. 2006; 2:93-98.