Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Dimitra Zafeiropoulou"'
Autor:
Abderrahim Marouane, Kornelia Neveling, A. Chantal Deden, Simone van den Heuvel, Dimitra Zafeiropoulou, Steven Castelein, Frank van de Veerdonk, David A. Koolen, Annet Simons, Richard Rodenburg, Dineke Westra, Arjen R. Mensenkamp, Nicole de Leeuw, Marjolijn Ligtenberg, Rene Matthijsse, Rolph Pfundt, Erik Jan Kamsteeg, Han G. Brunner, Christian Gilissen, Ilse Feenstra, Willem P. de Boode, Helger G. Yntema, Wendy A. G. van Zelst-Stams, Marcel Nelen, Lisenka E. L. M. Vissers
Publikováno v:
Frontiers in Genetics, Vol 14 (2024)
Introduction: Rapid exome sequencing (rES) has become the first-choice genetic test for critically ill patients, mostly neonates, young infants, or fetuses in prenatal care, in time-sensitive situations and when it is expected that the genetic test r
Externí odkaz:
https://doaj.org/article/364681d5e75041ca8dc96c630c12c069
Autor:
Peer Arts, Annet Simons, Mofareh S. AlZahrani, Elanur Yilmaz, Eman AlIdrissi, Koen J. van Aerde, Njood Alenezi, Hamza A. AlGhamdi, Hadeel A. AlJubab, Abdulrahman A. Al-Hussaini, Fahad AlManjomi, Alaa B. Alsaad, Badr Alsaleem, Abdulrahman A. Andijani, Ali Asery, Walid Ballourah, Chantal P. Bleeker-Rovers, Marcel van Deuren, Michiel van der Flier, Erica H. Gerkes, Christian Gilissen, Murad K. Habazi, Jayne Y. Hehir-Kwa, Stefanie S. Henriet, Esther P. Hoppenreijs, Sarah Hortillosa, Chantal H. Kerkhofs, Riikka Keski-Filppula, Stefan H. Lelieveld, Khurram Lone, Marius A. MacKenzie, Arjen R. Mensenkamp, Jukka Moilanen, Marcel Nelen, Jaap ten Oever, Judith Potjewijd, Pieter van Paassen, Janneke H. M. Schuurs-Hoeijmakers, Anna Simon, Tomasz Stokowy, Maartje van de Vorst, Maaike Vreeburg, Anja Wagner, Gijs T. J. van Well, Dimitra Zafeiropoulou, Evelien Zonneveld-Huijssoon, Joris A. Veltman, Wendy A. G. van Zelst-Stams, Eissa A. Faqeih, Frank L. van de Veerdonk, Mihai G. Netea, Alexander Hoischen
Publikováno v:
Genome Medicine, Vol 11, Iss 1, Pp 1-15 (2019)
Abstract Background Diagnosis of primary immunodeficiencies (PIDs) is complex and cumbersome yet important for the clinical management of the disease. Exome sequencing may provide a genetic diagnosis in a significant number of patients in a single ge
Externí odkaz:
https://doaj.org/article/1fc9affd647845a3af9208be55433db4
Autor:
Ana Arteche, Olivier Roche, Marta Corton, Christian Gilissen, Felix Frémont, Patrick Calvas, Adele Schneider, Nicola K. Ragge, Pierre Bitoun, Carmen Ayuso, Dimitra Zafeiropoulou, Julie Plaisancié, Anne Slavotinek, Celia Zazo-Seco, Nicolas Chassaing
Publikováno v:
Journal of Human Genetics, 65, 5, pp. 487-491
Journal of Human Genetics, 65, 487-491
Journal of Human Genetics, 65, 487-491
Contains fulltext : 220455.pdf (Publisher’s version ) (Closed access) Microphthalmia, anophthalmia, and anterior segment dysgenesis are severe ocular developmental defects. There is a wide genetic heterogeneity leading to these ocular malformations
Autor:
Olga Theodorikakou, Ichiro Kawachi, Sotiris Vandoros, Dimitra Zafeiropoulou, Kyriakos Katsadoros
Background and ObjectiveMental health outcomes have reportedly worsened in several countries during the Covid-19 pandemic and associated lockdowns. In the present study we examined whether suicides increased in Greece during the first wave of the pan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::91f1cd3eca5fd52a1ecfc50d7be975fa
https://doi.org/10.1101/2020.11.13.20231571
https://doi.org/10.1101/2020.11.13.20231571
Autor:
Celia, Zazo-Seco, Julie, Plaisancié, Pierre, Bitoun, Marta, Corton, Ana, Arteche, Carmen, Ayuso, Adele, Schneider, Dimitra, Zafeiropoulou, Christian, Gilissen, Olivier, Roche, Felix, Frémont, Patrick, Calvas, Anne, Slavotinek, Nicola, Ragge, Nicolas, Chassaing
Publikováno v:
Journal of human genetics. 65(5)
Microphthalmia, anophthalmia, and anterior segment dysgenesis are severe ocular developmental defects. There is a wide genetic heterogeneity leading to these ocular malformations. By using whole genome, exome and targeted sequencing in patients with
Autor:
Jayne Y. Hehir-Kwa, Njood Alenezi, Stefan H. Lelieveld, Badr Alsaleem, Arjen R. Mensenkamp, Marcel van Deuren, Christian Gilissen, Mofareh AlZahrani, Murad K. Habazi, Eman AlIdrissi, Mihai G. Netea, Alaa B. Alsaad, Pieter van Paassen, Wendy A. G. van Zelst-Stams, Hadeel A. AlJubab, Maartje van de Vorst, Sarah Hortillosa, Joris A. Veltman, Abdulrahman Al-Hussaini, Stefanie S. V. Henriet, Anja Wagner, Hamza A. AlGhamdi, Fahad AlManjomi, Maaike Vreeburg, Annet Simons, Walid Ballourah, Esther P A H Hoppenreijs, Chantal P. Bleeker-Rovers, Jukka S. Moilanen, M.A. MacKenzie, Dimitra Zafeiropoulou, Abdulrahman A. Andijani, Michiel van der Flier, Peer Arts, Judith Potjewijd, Eissa Faqeih, Koen J. van Aerde, Gijs Th. J. van Well, Frank L. van de Veerdonk, Erica H. Gerkes, Anna Simon, Tomasz Stokowy, Evelien Zonneveld-Huijssoon, Ali Asery, Khurram Lone, Chantal Kerkhofs, Janneke H M Schuurs-Hoeijmakers, Marcel R. Nelen, Riikka Keski-Filppula, Jaap ten Oever, Alexander Hoischen, Elanur Yilmaz
Publikováno v:
Genome Medicine, 11, 1
Genome Medicine
Genome medicine, 11:38. BMC
Genome Medicine, 11:38, 1-15. BioMed Central Ltd
Genome Medicine, 11:38. BioMed Central Ltd.
Genome Medicine, 11
Genome Medicine, Vol 11, Iss 1, Pp 1-15 (2019)
Genome Medicine
Genome medicine, 11:38. BMC
Genome Medicine, 11:38, 1-15. BioMed Central Ltd
Genome Medicine, 11:38. BioMed Central Ltd.
Genome Medicine, 11
Genome Medicine, Vol 11, Iss 1, Pp 1-15 (2019)
Background Diagnosis of primary immunodeficiencies (PIDs) is complex and cumbersome yet important for the clinical management of the disease. Exome sequencing may provide a genetic diagnosis in a significant number of patients in a single genetic tes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e04ce74acbb094de4102667590f55cd7
https://hdl.handle.net/2066/204759
https://hdl.handle.net/2066/204759
Autor:
Alwin Rikken, Bart van Lier, Dimitra Zafeiropoulou, Alexander Hoischen, Ivo B J F Adan, Ronny Derks, Marcel R. Nelen, Stijn M M Bertens, Kornelia Neveling, Djie Tjwan Thung, Marloes Steehouwer, Michael Kwint, Jay Shendure, Hicham Ouchene, Evan A. Boyle, Arjen R. Mensenkamp, Jayne Y. Hehir-Kwa, Stefan H. Lelieveld, Tomasz Stokowy, Steven Castelein, Tom Hofste, Per M. Knappskog, Astrid Eijkelenboom, Beth Martin, Ermanno A.J. Bosgoed, Vidar M. Steen, Helger G. Yntema, Marjolijn J. L. Ligtenberg, Bastiaan B J Tops, Hildegunn Høberg-Vetti, Marloes Tychon
Publikováno v:
Clinical Chemistry, 63, 503-512
Clinical Chemistry, 63(2), 503-512. American Association for Clinical Chemistry Inc.
Clinical Chemistry, 63, 2, pp. 503-512
Clinical Chemistry, 63(2), 503-512. American Association for Clinical Chemistry Inc.
Clinical Chemistry, 63, 2, pp. 503-512
BACKGROUND Despite advances in next generation DNA sequencing (NGS), NGS-based single gene tests for diagnostic purposes require improvements in terms of completeness, quality, speed, and cost. Single-molecule molecular inversion probes (smMIPs) are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ff362a16b1977a0fc949eda67975675
https://doi.org/10.1373/clinchem.2016.263897
https://doi.org/10.1373/clinchem.2016.263897