Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Marios Vogazianos"'
Autor:
Theodoros Georgiou, Petros P. Petrou, Anna Malekkou, Ioannis Ioannou, Marina Gavatha, Nicos Skordis, Paola Nicolaidou, Irini Savvidou, Emilia Athanasiou, Sofia Ourani, Elena Papamichael, Marios Vogazianos, Maria Dionysiou, Gabriella Mavrikiou, Olga Grafakou, George A. Tanteles, Violetta Anastasiadou, Anthi Drousiotou
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 39, Iss , Pp 101083- (2024)
Selective screening for inherited metabolic disorders (IMD) began in Cyprus in 1990. Over the last thirty-three years 7388 patients were investigated for IMD and 200 diagnoses were made (diagnostic yield 2.7%). The existence of a single laboratory of
Externí odkaz:
https://doaj.org/article/6bd5436426fd421e948f26520ed12247
Autor:
J. Gerard Loeber, Dimitris Platis, Rolf H. Zetterström, Shlomo Almashanu, François Boemer, James R. Bonham, Patricia Borde, Ian Brincat, David Cheillan, Eugenie Dekkers, Dobry Dimitrov, Ralph Fingerhut, Leifur Franzson, Urh Groselj, David Hougaard, Maria Knapkova, Mirjana Kocova, Vjosa Kotori, Viktor Kozich, Anastasiia Kremezna, Riikka Kurkijärvi, Giancarlo La Marca, Ruth Mikelsaar, Tatjana Milenkovic, Vyacheslav Mitkin, Florentina Moldovanu, Uta Ceglarek, Loretta O'Grady, Mariusz Oltarzewski, Rolf D. Pettersen, Danijela Ramadza, Damilya Salimbayeva, Mira Samardzic, Markhabo Shamsiddinova, Jurgita Songailiené, Ildiko Szatmari, Nazi Tabatadze, Basak Tezel, Alma Toromanovic, Irina Tovmasyan, Natalia Usurelu, Parsla Vevere, Laura Vilarinho, Marios Vogazianos, Raquel Yahyaoui, Maximilian Zeyda, Peter C.J.I. Schielen
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 1, p 15 (2021)
Neonatal screening (NBS) was initiated in Europe during the 1960s with the screening for phenylketonuria. The panel of screened disorders (“conditions”) then gradually expanded, with a boost in the late 1990s with the introduction of tandem mass
Externí odkaz:
https://doaj.org/article/b2da148c817c463e8d75115a3ccc2d88
Autor:
Maximilian Zeyda, Viktor Kozich, Dimitris Platis, Damilya Salimbayeva, Patricia Borde, Jurgita Songailiene, Vyacheslav Mitkin, Dobry Dimitrov, Basak Tezel, David Cheillan, Nazi Tabatadze, Tatjana Milenkovic, Rolf Zetterström, Loretta O'Grady, Urh Groselj, Mirjana Kocova, Leifur Franzson, François Boemer, Natalia Usurelu, Ian Brincat, Maria Knapkova, Anastasiia Kremezna, James R. Bonham, Eugènie H. B. M. Dekkers, Peter C. J. I. Schielen, Mira Samardzic, Parsla Vevere, Danijela Ramadza, Shlomo Almashanu, Rolf D. Pettersen, Ruth Mikelsaar, Mariusz Ołtarzewski, Vjosa Kotori, Florentina Moldovanu, Marios Vogazianos, Ralph Fingerhut, Raquel Yahyaoui, Ildikó Szatmári, David M. Hougaard, J. Gerard Loeber, Uta Ceglarek, Riikka Kurkijärvi, Alma Toromanovic, Irina Tovmasyan, Markhabo Shamsiddinova, Giancarlo la Marca, Laura Vilarinho
Publikováno v:
International Journal of Neonatal Screening
International Journal of Neonatal Screening, MDPI, 2021, 7 (1), pp.15. ⟨10.3390/ijns7010015⟩
Volume 7
Issue 1
International journal of neonatal screening, Basel : MDPI, 2021, vol. 7, iss. 1, art. no. 15, p. [1-21]
International Journal of Neonatal Screening, Vol 7, Iss 15, p 15 (2021)
International Journal of Neonatal Screening, MDPI, 2021, 7 (1), pp.15. ⟨10.3390/ijns7010015⟩
Volume 7
Issue 1
International journal of neonatal screening, Basel : MDPI, 2021, vol. 7, iss. 1, art. no. 15, p. [1-21]
International Journal of Neonatal Screening, Vol 7, Iss 15, p 15 (2021)
International audience; Neonatal screening (NBS) was initiated in Europe during the 1960s with the screening for phenylketonuria. The panel of screened disorders ("conditions") then gradually expanded, with a boost in the late 1990s with the introduc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a8d05e2876f51b49ff9cea9d13f73c4
https://www.hal.inserm.fr/inserm-03337431/file/IJNS-07-00015-v3.pdf
https://www.hal.inserm.fr/inserm-03337431/file/IJNS-07-00015-v3.pdf
Autor:
Anthi Drousiotou, Paola Nicolaides, Alexia Nicolaou, Georgia Chappa, Goula Stylianidou, Gladys Ho, Theodoros Georgiou, Marios Vogazianos, Maria Dionysiou, John Christodoulou
Publikováno v:
Clinical biochemistry. 45(7-8)
Objectives The purpose of this study was to identify the mutations responsible for phenylalanine hydroxylase deficiency in Cypriot patients detected through neonatal screening. Design and Methods Analysis of the PAH gene was performed by direct seque
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab66e3fafaf96aa699c3f9b2e607dc35
https://pubmed.ncbi.nlm.nih.gov/22330942
https://pubmed.ncbi.nlm.nih.gov/22330942
Autor:
Marios Vogazianos, Maria Topouzi, Evi Erakleous, Nicos Skordis, Americos Argyriou, Meropi Toumba, Savvas C. Savva
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 18
Objective: To evaluate the results of the screening program for congenital hypothyroidism (CH) in the Greek Cypriot population. Children and Methods: During 1990-2000, 109,532 neonates were screened by TSH determination. Permanent CH was proven with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4fcc3e0e34ab00ca8111aee917b1a46
https://doi.org/10.1515/jpem.2005.18.5.453
https://doi.org/10.1515/jpem.2005.18.5.453