Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Iris H. I. M. Hollink"'
Autor:
Kim Elsink, Manon M. H. Huibers, Iris H. I. M. Hollink, Annet Simons, Evelien Zonneveld-Huijssoon, Lars T. van der Veken, Helen L. Leavis, Stefanie S. V. Henriet, Marcel van Deuren, Frank L. van de Veerdonk, Judith Potjewijd, Dagmar Berghuis, Virgil A. S. H. Dalm, Clementien L. Vermont, Annick A. J. M. van de Ven, Annechien J. A. Lambeck, Kristin M. Abbott, P. Martin van Hagen, Godelieve J. de Bree, Taco W. Kuijpers, Geert W. J. Frederix, Mariëlle E. van Gijn, Joris M. van Montfrans, the Genetics First for Primary Immunodeficiency Disorders Consortium, Aerde van, KJ, Altenburg, J, Armbrust W, Barendregt, BH, Berg van den, JM, Bredius, RGM, Buddingh, EP, Burg van der, M, Ellerbroek, PM, Ernst, RF, Fraaij, PLA, Hermans, M, Hoischen, A, Hout van der, AH, Jansen, MHA, Jolink, H, Jonkers, RE, Laar van, JAM, Leeuw de, K, Legger, GE, Leijten, EFA, Limper, M, Lindemans, CA, Oever ten, J, Pieterse, M, Rombach, SM, Rossum van, AMC, Rutgers, A, Santen, GWE, Schölvinck, EH, Simon, A, Stol, K, Vervenne RML
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
ObjectiveInborn errors of immunity (IEI) are a heterogeneous group of disorders, affecting different components of the immune system. Over 450 IEI related genes have been identified, with new genes continually being recognized. This makes the early a
Externí odkaz:
https://doaj.org/article/1589a20c7b90482f8384cabc050aeb63
Autor:
Zijun Zhou, Iris H. I. M. Hollink, Arjan Bouman, Mirthe S. Lourens, Rik A. Brooimans, Tjakko J. Ham, Pieter L. A. Fraaij, Annemarie M. C. Rossum, Eline A. M. Zijtregtop, Willem A. Dik, Virgil A. S. H. Dalm, P. Martin Hagen, Hanna Ijspeert, Clementien L. Vermont
Publikováno v:
Pediatric Allergy and Immunology, 33(4):e13768. Blackwell Publishing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8718105a02eaf77f696368f09462729c
https://pure.eur.nl/en/publications/a8c161fb-247e-4225-98ca-34ebaf9df455
https://pure.eur.nl/en/publications/a8c161fb-247e-4225-98ca-34ebaf9df455
Autor:
null Zijun Zhou, null Iris H. I. M. Hollink, null Arjan Bouman, null Mirthe S. Lourens, null Rik A. Brooimans, null Tjakko J. Ham, null Pieter L. A. Fraaij, null Annemarie M. C. Rossum, null Eline A. M. Zijtregtop, null Willem A. Dik, null Virgil A. S. H. Dalm, null P. Martin Hagen, null Hanna Ijspeert, null Clementien L. Vermont
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::309425688db9d28180f0502bcbd4c5b2
https://doi.org/10.1111/pai.13768/v2/response1
https://doi.org/10.1111/pai.13768/v2/response1
Autor:
Timo C. E. Zondag, Lamberto Torralba-Raga, Jan A. M. Van Laar, Maud A. W. Hermans, Arjen Bouman, Iris H. I. M. Hollink, P. Martin Van Hagen, Deborah A. Briggs, Alistair N. Hume, Yenan T. Bryceson
Publikováno v:
Journal of Clinical Immunology
Journal of Clinical Immunology, 42(8), 1685-1695. Springer New York
Journal of Clinical Immunology, 42(8), 1685-1695. Springer New York
Autosomal recessive mutations in RAB27A are associated with Griscelli syndrome type 2 (GS2), characterized by hypopigmentation and development of early-onset, potentially fatal hemophagocytic lymphohistiocytosis (HLH). We describe a 35-year old male
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57c97e110435e9e3e9e5dd5d7aa40185
https://hdl.handle.net/11250/3044229
https://hdl.handle.net/11250/3044229
Autor:
Mengting Zhao, Molly L. Bucklin, Iris H I M Hollink, Anne M. Griffiths, Jie Pan, Jason Catanzaro, Neil Warner, Saquib A. Lakhani, Timothy J. Maher, Aleixo M. Muise, Raffaella A. Morotti, Virgil A. S. H. Dalm, Andrew J. Rice, Carrie L. Lucas, Paul L. McCarthy, Weizhen Ji, Paul M. Tyler, Annemarie M.C. van Rossum
Publikováno v:
Nature Immunology, 22(9), 1118-1126. Nature Publishing Group
Nat Immunol
Nat Immunol
Transcription factors specialized to limit the destructive potential of inflammatory immune cells remain ill-defined. We discovered loss-of-function variants in the X-linked ETS transcription factor gene ELF4 in multiple unrelated male patients with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67b53c6832e3ec633b40efececdc8141
https://pure.eur.nl/en/publications/a21ed0e4-3178-4459-83f5-3025a15e9c0c
https://pure.eur.nl/en/publications/a21ed0e4-3178-4459-83f5-3025a15e9c0c
Autor:
Marianna Parlato, Sandrine Nugteren, D.J. Lindenbergh-Kortleve, Remy Boisgard, R. C. Raatgeep, Nicolas Guegan, Iris H I M Hollink, Nadine Cerf-Bensussan, L M M Costes, Fabienne Charbit-Henrion, M. Luisa Mearin, Johanna C. Escher, Valérie Malan, Jan Krzysztof Nowak, Janneke N. Samsom, Sharon Veenbergen, Maria E. Joosse
Publikováno v:
Mucosal Immunology, 14(5), 1172-1182. SPRINGERNATURE
Mucosal Immunology
Mucosal Immunology, 14(5), 1172-1182. Nature Publishing Group
Mucosal Immunology
Mucosal Immunology, 14(5), 1172-1182. Nature Publishing Group
Single genetic mutations predispose to very early onset inflammatory bowel disease (VEO-IBD). Here, we identify a de novo duplication of the 10p15.1 chromosomal region, including the IL2RA locus, in a 2-year-old girl with treatment-resistant pancolit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a002db7d270b9a537d87accc4d0b3ea0
https://hdl.handle.net/1887/3277458
https://hdl.handle.net/1887/3277458
Autor:
Conor Gruber, Raju Khubchandani, Vanessa Sancho-Shimizu, Daniel L. Kastner, Diana Legarda, Iris H I M Hollink, Beatrijs H.A. Wokke, Mark Chan, Sofija Buta, Philomine van Pelt, Pallavi Pimpale Chavan, Michael Markson, Roosheel S. Patel, Ira K. D. Sabli, Justin Taft, Adrian T. Ting, Dusan Bogunovic, Louise Malle, Marta Martín-Fernández, Seza Ozen, Jan A M van Laar, Ivona Aksentijevich, Muserref Kasap Cuceoglu, Grazia M.S. Mancini, Oskar Schnappauf, Ashley Richardson
Publikováno v:
Cell, 184(17), 4447-+. Cell Press
Cell
Cell
Summary TANK binding kinase 1 (TBK1) regulates IFN-I, NF-κB, and TNF-induced RIPK1-dependent cell death (RCD). In mice, biallelic loss of TBK1 is embryonically lethal. We discovered four humans, ages 32, 26, 7, and 8 from three unrelated consanguine
Autor:
Iris H I M, Hollink, Ans M W, van den Ouweland, H Berna, Beverloo, Susan T C J M, Arentsen-Peters, C Michel, Zwaan, Anja, Wagner
Publikováno v:
Journal of medical genetics. 54(12)
Recently a novel syndromic form of overgrowth with intellectual disability and distinct facial features was identified caused by constitutional mutations in the epigenetic regulator DNA-methyltransferase 3A (Here we present the first case of TBRS who
Autor:
Iris H. I. M. Hollink, Majid Alfadhel, Anwar S. Al-Wakeel, Farough Ababneh, Rolph Pfundt, Stella A. de Man, Rami Abou Jamra, Arndt Rolfs, Aida M. Bertoli-Avella, Ingrid M. B. H. van de Laar
Publikováno v:
Journal of Human Genetics. 63:539-539
Correction to: Journal of Human Genetics (2016) 61, 229-33 https://doi.org/10.1038/jhg.2015.134 ; published online 26 November 2015.
Autor:
Claudia A. L. Ruivenkamp, J Anneke Kievit, Maartje van Rij, Iris H I M Hollink, Martine J. van Belzen, Arie van Haeringen, Paulien A. Terhal, Sarina G. Kant
Publikováno v:
American Journal of Medical Genetics Part A, 176(5), 1212-1215. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 176(5), 1212. Wiley-Liss Inc.
American Journal of Medical Genetics Part A, 176(5), 1212-1215
American Journal of Medical Genetics. Part A, 176(5), 1212. Wiley-Liss Inc.
American Journal of Medical Genetics Part A, 176(5), 1212-1215
The SETD2-related overgrowth syndrome is also called "Luscan-Lumish syndrome" (OMIM 616831) with the clinical characteristics of intellectual disability, speech delay, macrocephaly, facial dysmorphism, and autism spectrum disorders. We report on two