Zobrazeno 1 - 10
of 54
pro vyhledávání: '"Pantelis, Constantoulakis"'
Autor:
Elena Fountzilas, Theofanis Papadopoulos, Eirini Papadopoulou, Cedric Gouedard, Helen P. Kourea, Pantelis Constantoulakis, Christina Magkou, Maria Sfakianaki, Vassiliki Kotoula, Dimitra Bantouna, Georgia Raptou, Angelica A. Saetta, Georgia Christopoulou, Dimitris Hatzibougias, Electra Michalopoulou-Manoloutsiou, Eleni Siatra, Eleftherios Eleftheriadis, Evangelia Kavoura, Loukas Kaklamanis, Antigoni Sourla, George Papaxoinis, Kitty Pavlakis, Prodromos Hytiroglou, Christina Vourlakou, Petroula Arapantoni-Dadioti, Samuel Murray, George Nasioulas, Grigorios Timologos, George Fountzilas, Zacharenia Saridaki
Publikováno v:
Diagnostics, Vol 14, Iss 11, p 1076 (2024)
Determination of microsatellite instability (MSI)/mismatch repair (MMR) status in cancer has several clinical implications. Our aim was to integrate MSI/MMR status from patients tested in Greece to assess the prevalence of MSI-high (MSI-H)/deficient
Externí odkaz:
https://doaj.org/article/16977904faf241ea9834c030319062de
Autor:
Evangelos Mantios, Vassilis Filiopoulos, Pantelis Constantoulakis, George Liapis, Angeliki Vittoraki, Silvia Casas, Smaragdi Marinaki, John N Boletis
Publikováno v:
Transplant International, Vol 36 (2023)
In our prospective, unicenter cohort study, we collected blood samples from 30 newly kidney transplanted patients, at month 1, 2, 3, and 5 for dd-cfDNA analysis, along with creatinine/eGFR and DSA monitoring, and from 32 patients who underwent an ind
Externí odkaz:
https://doaj.org/article/ece47506b29b44939e1c3d6e771034bd
Autor:
George Koumbaris, Achilleas Achilleos, Michalis Nicolaou, Charalambos Loizides, Kyriakos Tsangaras, Elena Kypri, Petros Mina, Carolina Sismani, Voula Velissariou, Georgia Christopoulou, Pantelis Constantoulakis, Emmanouil Manolakos, Ioannis Papoulidis, Danai Stambouli, Marios Ioannides, Philippos Patsalis
Publikováno v:
Molecular Cytogenetics, Vol 12, Iss 1, Pp 1-9 (2019)
Abstract Background Non-invasive prenatal testing (NIPT) has been widely adopted for the detection of fetal aneuploidies and microdeletion syndromes, nevertheless, limited clinical utilization has been reported for the non-invasive prenatal screening
Externí odkaz:
https://doaj.org/article/c8dd64cfe8c54040bbd618666302dd47
Autor:
Malena P. Pantou, Polyxeni Gourzi, Aggeliki Gkouziouta, Iakovos Armenis, Loukas Kaklamanis, Christianna Zygouri, Pantelis Constantoulakis, Stamatis Adamopoulos, Dimitrios Degiannis
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-6 (2019)
Abstract Background Restrictive cardiomyopathy is a rare cardiac disease, for which several genes including TNNT2, MYPN, FLNC and TNNI3 have been associated with its familial form. Case presentation Here we describe a female proband with a severely m
Externí odkaz:
https://doaj.org/article/39c8de68ff0e4a3796f94c8498504daf
Autor:
Christos Stenos, Konstantinos Kalafatakis, Pantelis Constantoulakis, Katerina Zekiou, Anna Margoni, Panagiota Kardara, Aspasia Terentiou, Georgios Stouraitis, Georgios Nikolaou
Publikováno v:
Journal of Clinical Lipidology. 16:281-285
Cerebrotendinous xanthomatosis (CTX) is a rare inherited disorder of the alternative pathway of bile acid biosynthesis, due to mutation(s) of the gene CYP27A1, leading to sterol 27-hydroxylase deficiency. The latter results in a systematic deposition
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08a2290e55179e273f38c15f66d051e7
https://doi.org/10.1016/j.jacl.2022.03.011
https://doi.org/10.1016/j.jacl.2022.03.011
Autor:
Loukas Kaklamanis, Pantelis Constantoulakis, Polyxeni Gourzi, Aggeliki Gkouziouta, Malena P. Pantou, Iakovos Armenis, Christianna Zygouri, Dimitrios Degiannis, Stamatis Adamopoulos
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-6 (2019)
BMC Medical Genetics
BMC Medical Genetics
Background Restrictive cardiomyopathy is a rare cardiac disease, for which several genes including TNNT2, MYPN, FLNC and TNNI3 have been associated with its familial form. Case presentation Here we describe a female proband with a severely manifested
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78dbd1112507104fdfaea6baeee6ad75
http://link.springer.com/article/10.1186/s12881-019-0793-z
http://link.springer.com/article/10.1186/s12881-019-0793-z
Autor:
Angeliki Gkouziouta, Polyxeni Gourzi, Loukas Kaklamanis, Dimitrios Degiannis, Malena P. Pantou, Christianna Zygouri, Stamatis Adamopoulos, Pantelis Constantoulakis, Dimitrios Tsiapras
Publikováno v:
European Journal of Medical Genetics. 62:77-80
Danon disease is a rare X-linked cardiac and skeletal muscle disorder with multisystem clinical manifestations. Genetic defects at the lysosome-associated membrane 2 protein (LAMP2) are the cause of the disorder. Due to the rarity of the disease, the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::649925725223078f3ccccaa7ce2007d4
https://doi.org/10.1016/j.ejmg.2018.05.015
https://doi.org/10.1016/j.ejmg.2018.05.015
Autor:
Marion Brayer, Yannis Duffourd, Helena Siemens, Michela Sali, Pantelis Constantoulakis, Lin Song, Ana C. Marques, Gilbert Greub, Adrian Willig, Chakib Alloui, Slawomir Kubik, Carsten Tiemann, Ewan W. Smith, Claire Bertelli, Flavio De Maio, Vicent Pelechano, Morgane Macheret, Yvan Wenger, Ali Si-Mohammed, Josiane Chuisseu, Janine Silvery, Zhenyu Xu, Tom Burr, Xiaobin Xing, Lars M. Steinmetz, Spyros Pournaras, Philippe Menu, Alexandra Saitta, Richard D. Stevens
Publikováno v:
Clinical Microbiology and Infection
Clinical microbiology and infection, vol. 27, no. 7, pp. 1036.e1-1036.e8
Clinical microbiology and infection, vol. 27, no. 7, pp. 1036.e1-1036.e8
Objectives Genotyping of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has been instrumental in monitoring viral evolution and transmission during the pandemic. The quality of the sequence data obtained from these genotyping efforts de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21dfeed9833b9c69ef59a35b2858e34f
http://europepmc.org/articles/PMC8016543
http://europepmc.org/articles/PMC8016543
Guidelines for accurate genotyping of SARS-CoV-2 using amplicon-based sequencing of clinical samples
Autor:
Xiaobin Xing, Yannis Duffourd, Gilbert Greub, Michela Sali, Pantelis Constantoulakis, Slawomir Kubik, Spyros Pournaras, Ewan W. Smith, Morgane Macheret, Yvan Wenger, Chakib Alloui, Carsten Tiemann, Ali Si-Mohammed, Janine Silvery, Zhenyu Xu, Tom Burr, Flavio De Maio, Lars M. Steinmetz, Philippe Menu, Claire Bertelli, Vicent Pelechano, Alexandra Saitta, Richard D. Stevens, Adrian Willig, Marion Brayer, Helena Siemens, Josiane Chuisseu, Ana C. Marques, Lin Song
BackgroundSARS-CoV-2 genotyping has been instrumental to monitor virus evolution and transmission during the pandemic. The reliability of the information extracted from the genotyping efforts depends on a number of aspects, including the quality of t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0e416e799682fddc55d96a68d4e68cce
https://doi.org/10.1101/2020.12.01.405738
https://doi.org/10.1101/2020.12.01.405738
Autor:
Sokratis Varitimidis, Ioanna N. Grivea, Pantelis Constantoulakis, Zisis Kyriazis, Zoe H. Dailiana, Panagoula Kollia
Publikováno v:
European Journal of Orthopaedic Surgery & Traumatology. 29:421-426
Molecular analysis of different types of thumb duplication and identification of new suspected gene mutations. In a series of patients operated for polydactyly, DNA was extracted from blood samples collected preoperatively. Among these, the samples o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::720f63b66d7510a958e96d2639359933
https://doi.org/10.1007/s00590-018-2343-3
https://doi.org/10.1007/s00590-018-2343-3