Zobrazeno 1 - 10 of 153 pro vyhledávání: '"M. Boonen"'
1
Akademický článek
COMPACT HYPERSPECTRAL IMAGING SYSTEM (COSI) FOR SMALL REMOTELY PILOTED AIRCRAFT SYSTEMS (RPAS) – SYSTEM OVERVIEW AND FIRST PERFORMANCE EVALUATION RESULTS
Autor: A. A. Sima, P. Baeck, D. Nuyts, S. Delalieux, S. Livens, J. Blommaert, B. Delauré, M. Boonen
Publikováno v: The International Archives of the Photogrammetry, Remote Sensing and Spatial Information Sciences, Vol XLI-B1, Pp 1157-1164 (2016)
This paper gives an overview of the new COmpact hyperSpectral Imaging (COSI) system recently developed at the Flemish Institute for Technological Research (VITO, Belgium) and suitable for remotely piloted aircraft systems. A hyperspectral dataset ca
Externí odkaz: https://doaj.org/article/fa08f8efa03f409694e42679a24e7c27
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3
Akademický článek
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes
Autor: Rebekkah J. Hitti-Malin, Daan M. Panneman, Zelia Corradi, Erica G. M. Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard H. F. Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Sandro Banfi, Tamar Ben-Yosef, Damjan Glavač, G. Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P. Szaflik, Anna Matynia, Michael B. Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfride De Baere, Carel B. Hoyng, Catherina H. Z. Li, Caroline C. W. Klaver, Chris F. Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L. Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L. Vincent, Lisa Roberts, Raj Ramesar, Giovanna Sartor, Elena Luppi, Susan M. Downes, L. Ingeborgh van den Born, Terri L. McLaren, John N. De Roach, Tina M. Lamey, Jennifer A. Thompson, Fred K. Chen, Anna M. Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J. Bolz, Hülya Kayserili, Susanne Roosing, Frans P. M. Cremers
Publikováno v: Biomolecules, Vol 14, Iss 3, p 367 (2024)
Inherited macular dystrophies (iMDs) are a group of genetic disorders, which affect the central region of the retina. To investigate the genetic basis of iMDs, we used single-molecule Molecular Inversion Probes to sequence 105 maculopathy-associated
Externí odkaz: https://doaj.org/article/a59ac914048b4e7daf70faf03534c762
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4
Akademický článek
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
Autor: Daan M. Panneman, Rebekkah J. Hitti-Malin, Lara K. Holtes, Suzanne E. de Bruijn, Janine Reurink, Erica G. M. Boonen, Muhammad Imran Khan, Manir Ali, Sten Andréasson, Elfride De Baere, Sandro Banfi, Miriam Bauwens, Tamar Ben-Yosef, Béatrice Bocquet, Marieke De Bruyne, Berta de la Cerda, Frauke Coppieters, Pietro Farinelli, Thomas Guignard, Chris F. Inglehearn, Marianthi Karali, Ulrika Kjellström, Robert Koenekoop, Bart de Koning, Bart P. Leroy, Martin McKibbin, Isabelle Meunier, Konstantinos Nikopoulos, Koji M. Nishiguchi, James A. Poulter, Carlo Rivolta, Enrique Rodríguez de la Rúa, Patrick Saunders, Francesca Simonelli, Yasmin Tatour, Francesco Testa, Alberta A. H. J. Thiadens, Carmel Toomes, Anna M. Tracewska, Hoai Viet Tran, Hiroaki Ushida, Veronika Vaclavik, Virginie J. M. Verhoeven, Maartje van de Vorst, Christian Gilissen, Alexander Hoischen, Frans P. M. Cremers, Susanne Roosing
Publikováno v: Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Introduction: Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by the cone photoreceptors of the retina. A genetic diagnosis for IRDs i
Externí odkaz: https://doaj.org/article/70773f087bee4d9ea754539e4fee1ac1
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5
Akademický článek
Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2
Autor: Rick A. C. M. Boonen, Amélie Rodrigue, Chantal Stoepker, Wouter W. Wiegant, Bas Vroling, Milan Sharma, Magdalena B. Rother, Nandi Celosse, Maaike P. G. Vreeswijk, Fergus Couch, Jacques Simard, Peter Devilee, Jean-Yves Masson, Haico van Attikum
Publikováno v: Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)
PALB2 is an established breast cancer risk gene but the pathogenicity of many variants remains uncharacterised. Here, the authors present a cDNA-based system for the functional analysis of PALB2 variants of unknown significance.
Externí odkaz: https://doaj.org/article/1494cb25245145e3baee045ab9de1c81
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6
Akademický článek
Functional Characterization of PALB2 Variants of Uncertain Significance: Toward Cancer Risk and Therapy Response Prediction
Autor: Rick A. C. M. Boonen, Maaike P. G. Vreeswijk, Haico van Attikum
Publikováno v: Frontiers in Molecular Biosciences, Vol 7 (2020)
In recent years it has become clear that pathogenic variants in PALB2 are associated with a high risk for breast, ovarian and pancreatic cancer. However, the clinical relevance of variants of uncertain significance (VUS) in PALB2, which are increasin
Externí odkaz: https://doaj.org/article/c257dbced89b40569de8d1d5c1e7febe
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8
Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK
Autor: Benjamin Mc Clinton, Zelia Corradi, Martin McKibbin, Daan M. Panneman, Susanne Roosing, Erica G. M. Boonen, Manir Ali, Christopher M. Watson, David H. Steel, Frans P. M. Cremers, Chris F. Inglehearn, Rebekkah J. Hitti-Malin, Carmel Toomes
Publikováno v: Genes; Volume 14; Issue 1; Pages: 191
Genes, 14, 1
Genes, 14
Genes
Macular dystrophies are a group of individually rare but collectively common inherited retinal dystrophies characterised by central vision loss and loss of visual acuity. Single molecule Molecular Inversion Probes (smMIPs) have proved effective in id
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4dc625647b55b98526bd790a5acaae8e
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9
Akademický článek
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