Zobrazeno 1 - 10 of 86 pro vyhledávání: '"H, Lelieveld"'
1
Akademický článek
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies
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
Zobrazit plný text záznamu
2
Akademický článek
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability
Autor: M. R. F. Reijnders, M. Kousi, G. M. van Woerden, M. Klein, J. Bralten, G. M. S. Mancini, T. van Essen, M. Proietti-Onori, E. E. J. Smeets, M. van Gastel, A. P. A. Stegmann, S. J. C. Stevens, S. H. Lelieveld, C. Gilissen, R. Pfundt, P. L. Tan, T. Kleefstra, B. Franke, Y. Elgersma, N. Katsanis, H. G. Brunner
Publikováno v: Nature Communications, Vol 8, Iss 1, Pp 1-12 (2017)
The mTOR pathway is a key regulator of normal brain development. Here, the authors identify de novo mutations in RHEB, an mTOR activator protein, in patients with intellectual disability associated with megalencephaly and find a role for RHEB in regu
Externí odkaz: https://doaj.org/article/ea6460e697d849ef87cfd70a3e73e744
Zobrazit plný text záznamu
5
Clonal dynamics in pediatric B-cell precursor acute lymphoblastic leukemia with very early relapse
Autor: Lionel Morgado, Jean-Pierre Bourquin, Mireia Camós, Hélène Cavé, Cedric G. van der Ham, Esmé Waanders, Peter M. Hoogerbrugge, Simon V. van Reijmersdal, Roland P. Kuiper, Cornelia Eckert, Željko Antić, Ad Geurts van Kessel, Beat Bornhauser, Anthony V. Moorman, Rosemary Sutton, Giovanni Cazzaniga, Frank N. van Leeuwen, Sarah Elitzur, Edwin Sonneveld, Stefan H. Lelieveld, Jiangyan Yu
Publikováno v: PEDIATRIC BLOOD & CANCER
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Pediatric Blood & Cancer, 69, 1
Pediatric Blood & Cancer, 69
Contains fulltext : 248362.pdf (Publisher’s version ) (Open Access) INTRODUCTION: One-quarter of the relapses in children with B-cell precursor acute lymphoblastic leukemia (BCP-ALL) occur very early (within 18 months, before completion of treatmen
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::690060265df1e3a67d7082a530f54464
http://hdl.handle.net/10281/336865
Zobrazit plný text záznamu
6
Unravelling the Sequential Interplay of Mutational Mechanisms during Clonal Evolution in Relapsed Pediatric Acute Lymphoblastic Leukemia
Autor: Cedric G. van der Ham, Peter M. Hoogerbrugge, Željko Antić, Roland P. Kuiper, Edwin Sonneveld, Stefan H. Lelieveld
Publikováno v: Genes, Vol 12, Iss 214, p 214 (2021)
Genes
Volume 12
Issue 2
Pediatric acute lymphoblastic leukemia (ALL) is the most common pediatric malignancy and is characterized by clonal heterogeneity. Genomic mutations can increase proliferative potential of leukemic cells and cause treatment resistance. However, mecha
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::418b5adb9fda63fb908d64a6f7db462f
https://www.mdpi.com/2073-4425/12/2/214
Zobrazit plný text záznamu
7
Scientific trends of global food laws and regulations
Autor: H. Lelieveld, Hamid Ezzatpanah
Publikováno v: Quality Assurance and Safety of Crops & Foods. 11:589-591
The book ‘Chemical hazards in foods of animal origin’ is the seventh in the series ‘Food Safety Assurance and Veterinary Public Health’. It represents a continuation of the scientific efforts to cover the most important food safety topics, fr
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e2af06532d5af62f5ba69a33984f15d9
https://doi.org/10.3920/qas2019.x002
Zobrazit plný text záznamu
8
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands
Autor: Ilse Feenstra, Marieke F. van Dooren, Marie José H. Van Den Boogaard, Rolph Pfundt, Stefan H. Lelieveld, Celia Zazo Seco, Henricus P. M. Kunst, Ilse J. de Wijs, Christian Gilissen, Saskia M. Maas, Arjan C. Houweling, Saskia Tamminga, Astrid S Plomp, Steven Castelein, Helger G. Yntema, Margit Schraders, Els K. Vanhoutte, Ronald J.C. Admiraal, Sarina G. Kant, Suzanna G.M. Frints, Hans Scheffer, Christa M. De Geus, Pia A. M. de Koning Gans, Jiddeke M. van de Kamp, Jayne Y. Hehir-Kwa, Ronald J.E. Pennings, Mieke Wesdorp, Hannie Kremer, Marcel R. Nelen, Lies H. Hoefsloot
Publikováno v: European Journal of Human Genetics, 25(3), 308-314. Nature Publishing Group
European Journal of Human Genetics, 25, 308-314
European Journal of Human Genetics, 25, 3, pp. 308-314
European Journal of Human Genetics, 25(3), 308. Nature Publishing Group
European journal of human genetics, 25(3), 308-314. Nature Publishing Group
Seco, C Z, Wesdorp, M, Feenstra, I, Pfundt, R, Hehir-Kwa, J Y, Lelieveld, S H, Castelein, S, Gilissen, C, De Wijs, I J, Admiraal, R J C, Pennings, R J E, Kunst, H P M, Van De Kamp, J M, Tamminga, S, Houweling, A C, Plomp, A S, Maas, S M, De Koning Gans, P A M, Kant, S G, De Geus, C M, Frints, S G M, Vanhoutte, E K, Van Dooren, M F, Van Den Boogaard, M J H, Scheffer, H, Nelen, M, Kremer, H, Hoefsloot, L, Schraders, M & Yntema, H G 2017, ' The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in the Netherlands ', European Journal of Human Genetics, vol. 25, no. 3, pp. 308-314 . https://doi.org/10.1038/ejhg.2016.182
Contains fulltext : 169850.pdf (Publisher’s version ) (Closed access) Hearing impairment (HI) is genetically heterogeneous which hampers genetic counseling and molecular diagnosis. Testing of several single HI-related genes is laborious and expensi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6dfd1405b2d7c6f194a52290cfacdd33
https://doi.org/10.1038/ejhg.2016.182
Zobrazit plný text záznamu
9
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction
Autor: Asbjørg Stray-Pedersen, Anne Ronan, Yunru Shao, Eric Haan, Katharina Steindl, Zöe Powis, Perla Thulin, Giuseppe Testa, Janneke H M Schuurs-Hoeijmakers, William J. Craigen, Raman Kumar, David Rodriguez-Buritica, Michele Gabriele, Laura S. Farach, Susanne Kjaergaard, Rolph Pfundt, Jillian Nicholl, Jozef Gecz, Petter Strømme, Stefan H. Lelieveld, Kenjiro Kosaki, Sally Ann Lynch, Kimberly M. Nugent, Willy M. Nillesen, Bregje W.M. van Bon, Jill A. Rosenfeld, Charlotte Brasch-Andersen, Eirik Frengen, Lisenka E.L.M. Vissers, Scott D. McLean, Evelyn Douglas, Joris Andrieux, David A. Koolen, Anneke T. Vulto-van Silfhout, Han G. Brunner, Arie van Haeringen, Jenny Morton, Sophie Patrier, Anita Rauch, Christeen Ramane J. Pedurupillay, Pierre-Luc Germain, Peter J. Anderson, Christian Gilissen, Christian P. Schaaf, Alessandro Vitriolo, Jennifer Friedman, Toshiki Takenouchi, Pascal Chambon, Bert B.A. de Vries, Doriana Misceo, Pernille Mathiesen Tørring
Publikováno v: American Journal of Human Genetics, 100(6), 907-925. Cell Press
Gabriele, M, Vulto-van Silfhout, A T, Germain, P-L, Vitriolo, A, Kumar, R, Douglas, E, Haan, E, Kosaki, K, Takenouchi, T, Rauch, A, Steindl, K, Frengen, E, Misceo, D, Pedurupillay, C R J, Stromme, P, Rosenfeld, J A, Shao, Y, Craigen, W J, Schaaf, C P, Rodriguez-Buritica, D, Farach, L, Friedman, J, Thulin, P, McLean, S D, Nugent, K M, Morton, J, Nicholl, J, Andrieux, J, Stray-Pedersen, A, Chambon, P, Patrier, S, Lynch, S A, Kjaergaard, S, Tørring, P M, Brasch-Andersen, C, Ronan, A, van Haeringen, A, Anderson, P J, Powis, Z, Brunner, H G, Pfundt, R, Schuurs-Hoeijmakers, J H M, van Bon, B W M, Lelieveld, S, Gilissen, C, Nillesen, W M, Vissers, L E L M, Gecz, J, Koolen, D A, Testa, G & de Vries, B B A 2017, ' YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction ', American Journal of Human Genetics, vol. 100, no. 6, pp. 907-925 . https://doi.org/10.1016/j.ajhg.2017.05.006
American Journal of Human Genetics, 100, 6, pp. 907-925
American Journal of Human Genetics, 100(6), 907-925
American Journal of Human Genetics, 100, 907-925
Contains fulltext : 174704.pdf (Publisher’s version ) (Open Access) Yin and yang 1 (YY1) is a well-known zinc-finger transcription factor with crucial roles in normal development and malignancy. YY1 acts both as a repressor and as an activator of g
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07351067280f9e4d20a25e94d59668cf
https://hdl.handle.net/2066/174704
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje