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L. Ingeborgh van den Born

Utrecht University

52H指数
191论文数
9.5K被引数
收录论文 86
发表时间
Vitreoretinal complications and surgical outcomes in patients with X-linked retinoschisisX连锁视网膜劈裂患者的玻璃体视网膜并发症及手术结果
err2025-11-01
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errHensman, Jonathan; Hahn, Leo C.; van Schooneveld, Mary J.; Diederen, Roselie M. H.; van den Broeck, Filip; Ten Brink, Jacoline B.; Thiadens, Alberta A.; van Genderen, Maria M.; van den Born, L. Ingeborgh; Leroy, Bart P.; Hoyng, Carel B.; Boon, Camiel J. F.
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Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal DystrophiesCRB1-Associated遗传性视网膜营养不良患者血浆补体因子升高
err2025-02-21
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errMoekotte, Lude; Boer, Joke H. de; Hiddingh, Sanne; de Ligt, Aafke; Nguyen, Xuan-Thanh-An; Hoyng, Carel B.; Inglehearn, Chris F.; Mckibbin, Martin; Lamey, Tina M.; Thompson, Jennifer A.; Chen, Fred K.; Mclaren, Terri L.; Altalbishi, Alaa; Panneman, Daan M.; Boonen, Erica G. M.; Banfi, Sandro; Bocquet, Beatrice; Meunier, Isabelle; De Baere, Elfride; Koenekoop, Robert; Oldak, Monika; Rivolta, Carlo; Roberts, Lisa; Ramesar, Raj; Strupaite-Sileikiene, Rasa; Kohl, Susanne; Farrar, G. Jane; van Vugt, Marion; van Setten, Jessica; Roosing, Susanne; van den Born, L. Ingeborgh; Boon, Camiel J. F.; Genderen, Maria M. van; Kuiper, Jonas J. W.
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Bile Acid Metabolism Changes in Patients with a CRB1-Associated Inherited Retinal DegenerationCRB1相关遗传性视网膜变性疾病患者中的胆汁酸代谢变化
err2025-01-01
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errMoekotte, Lude; de Boer, Joke H.; Hiddingh, Sanne; Gerritsen, Bram; Lintelmann, Jutta; Cecil, Alexander; van den Born, L. Ingeborgh; Nguyen, Xuan-Thanh-An; Boon, Camiel J. F.; van Genderen, Maria M.; Kuiper, Jonas J. W.
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Automated Cone Photoreceptor Detection in Adaptive Optics Flood Illumination Ophthalmoscopy
err2024-12-01
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PREAI
errWooning, Sander; Heutinck, Pam A. T.; Liman, Kubra; Hennekam, Sem; van Haute, Manon; van den Broeck, Filip; Leroy, Bart; Sampson, Danuta M.; Roshandel, Danial; Chen, Fred K.; Pelt, Daniel M.; van den Born, L. Ingeborgh; Verhoeven, Virginie J. M.; Klaver, Caroline C. W.; Thiadens, Alberta A. H. J.; Durand, Marine; Chateau, Nicolas; van Walsum, Theo; De Jesus, Danilo Andrade; Brea, Luisa Sanchez
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Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium
err2024-08-29
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errHeutinck, Pam A. T.; van den Born, L. Ingeborgh; Vermeer, Maikel; Gonzales, Adriana I. Iglesias; Hoyng, Carel B.; Pott, Jan Willem R.; Kroes, Hester Y.; van Schooneveld, Mary J.; Boon, Camiel J. F.; van Genderen, Maria M.; Plomp, Astrid S.; de Jong-Hesse, Yvonne; van Egmond-Ebbeling, Michelle B.; Hoefsloot, Lies H.; Bergen, Arthur A.; Klaver, Caroline C. W.; Meester-Smoor, Magda A.; Thiadens, Alberta A. H. J.; Verhoeven, Virginie J. M.
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Multicentric Longitudinal Prospective Study in a European Cohort of MYO7A Patients: Disease Course and Implications for Gene Therapy
err2024-06-17
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errTesta, Francesco; Carreno, Ester; van den Born, L. Ingeborgh; Melillo, Paolo; Perea-Romero, Irene; Di Iorio, Valentina; Risca, Giulia; Iodice, Clemente Maria; Pennings, Ronald J. E.; Karali, Marianthi; Banfi, Sandro; Auricchio, Alberto; Galimberti, Stefania; Ayuso, Carmen; Simonelli, Francesca
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Loss-of-function variants in UBAP1L cause autosomal recessive retinal degenerationUBAP1L的功能丧失变异导致常染色体隐性视网膜变性
err2024-06-01
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PREAI
errHan, Ji Hoon; Rodenburg, Kim; Hayman, Tamar; Calzetti, Giacomo; Kaminska, Karolina; Quinodoz, Mathieu; Marra, Molly; Wallerich, Sandrine; Allon, Gilad; Nagy, Zoltan Z.; Knezy, Krisztina; Li, Yumei; Chen, Rui; Barboni, Mirella Telles Salgueiro; Yang, Paul; Pennesi, Mark E.; van den Born, L. Ingeborgh; Varsanyi, Balazs; Szabo, Viktoria; Sharon, Dror; Banin, Eyal; Ben-Yosef, Tamar; Roosing, Susanne; Koenekoop, Robert K.; Rivolta, Carlo
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CRB1-Associated Retinal Dystrophy Patients Have Expanded Lewis Glycoantigen-Positive T Cells
err2023-10-04
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errMoekotte, Lude; Kuiper, Jonas J. W.; Hiddingh, Sanne; Nguyen, Xuan-Thanh-An; Boon, Camiel J. F.; van den Born, L. Ingeborgh; de Boer, Joke H.; van Genderen, Maria M.
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Quality of life in patients with CRB1-associated retinal dystrophies: A longitudinal study
err2023-09-25
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errKaruntu, Jessica S.; Nguyen, Xuan-Thanh-An; Talib, Mays; van Schooneveld, Mary J.; Wijnholds, Jan; van Genderen, Maria M.; Schalij-Delfos, Nicoline E.; Klaver, Caroline C. W.; Meester-Smoor, Magda A.; van den Born, L. Ingeborgh; Hoyng, Carel B.; Thiadens, Alberta A. H. J.; Bergen, Arthur A.; van Nispen, Ruth M. A.; Boon, Camiel J. F.
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Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction
err2023-04-01
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errReurink, Janine; Weisschuh, Nicole; Garanto, Alejandro; Dockery, Adrian; van den Born, L. Ingeborgh; Fajardy, Isabelle; Haer-Wigman, Lonneke; Kohl, Susanne; Wissinger, Bernd; Farrar, G. Jane; Ben-Yosef, Tamar; Pfiffner, Fatma Kivrak; Berger, Wolfgang; Weener, Marianna E.; Dudakova, Lubica; Liskova, Petra; Sharon, Dror; Salameh, Manar; Offenheim, Ashley; Heon, Elise; Girotto, Giorgia; Gasparini, Paolo; Morgan, Anna; Bergen, Arthur A.; ten Brink, Jacoline B.; Klaver, Caroline C. W.; Tranebjaerg, Lisbeth; Rendtorff, Nanna D.; Vermeer, Sascha; Smits, Jeroen J.; Pennings, Ronald J. E.; Aben, Marco; Oostrik, Jaap; Astuti, Galuh D. N.; Galbany, Jordi Corominas; Kroes, Hester Y.; Phan, Milan; Zelst-Stams, Wendy A. G. van; Thiadens, Alberta A. H. J.; Verheij, Joke B. G. M.; Schooneveld, Mary J. van; Bruijn, Suzanne E. de; Li, Catherina H. Z.; Hoyng, Carel B.; Gilissen, Christian; Vissers, Lisenka E. L. M.; Cremers, Frans P. M.; Kremer, Hannie; van Wijk, Erwin; Roosing, Susanne
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Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease- associated genes光学基因组图谱和重新审视短读基因组测序数据揭示了先前被忽视的破坏视网膜疾病相关基因的结构变异
err2023-03-01
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errBruijn, Suzanne E. de; Rodenburg, Kim; Corominas, Jordi; Ben-Yosef, Tamar; Reurink, Janine; Kremer, Hannie; Whelan, Laura; Plomp, Astrid S.; Berger, Wolfgang; Farrar, G. Jane; Kovaecs, Arpaed Ferenc; Fajardy, Isabelle; Hitti-Malin, Rebekkah J.; Weisschuh, Nicole; Weener, Marianna E.; Sharon, Dror; Pennings, Ronald J. E.; Haer-Wigman, Lonneke; Hoyng, Carel B.; Nelen, Marcel R.; Vissers, Lisenka E. L. M.; van den Born, L. Ingeborgh; Gilissen, Christian; Cremers, Frans P. M.; Hoischen, Alexander; Neveling, Kornelia; Roosing, Susanne
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X-Linked Retinoschisis Novel Clinical Observations and Genetic Spectrum in 340 PatientsX连锁视网膜劈裂症340患者的新临床观察和遗传谱
err2022-02-01
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errHahn, Leo C.; Schooneveld, Mary J. van; Wesseling, Nieneke L.; Florijn, Ralph J.; Brink, Jacoline B. ten; Lissenberg-Witte, Birgit I.; Strubbe, Ine; Meester-Smoor, Magda A.; Thiadens, Alberta A.; Diederen, Roselie M.; van Cauwenbergh, Caroline; de Zaeytijd, Julie; Walraedt, Sophie; de Baere, Elfride; Klaver, Caroline C. W.; Norel, Jeannette Ossewaarde-van; Born, L. Ingeborgh van den; Hoyng, Carel B.; Genderen, Maria M. van; Sieving, Paul A.; Leroy, Bart P.; Bergen, Arthur A.; Boon, Camiel J. F.
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CRB1-Associated Retinal Dystrophies: A Anticipation of Future Clinical Trials
err2022-02-01
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errNguyen, Xuan-thanh-an; Talib, Mays; van Schooneveld, Mary J.; Wijnholds, J. A. N.; van Genderen, Maria M.; Schalij-delfos, Nicoline E.; Klaver, Caroline C. W.; Talsma, Herman E.; Fiocco, Marta; Florijn, Ralph J.; ten Brink, Jacoline B.; Cremers, Frans P. M.; Meester-smoor, Magda A.; van den Born, L. Ingeborgh; Hoyng, Carel B.; Thiadens, Alberta A. H. J.; Bergen, Arthur A.; Boon, Camiel J. F.
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BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa
err2021-04-28
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PREAI
errFadaie, Zeinab; Whelan, Laura; Dockery, Adrian; Li, Catherina H. Z.; van der Born, L. Ingeborgh; Hoyng, Carel B.; Gilissen, Christian; Corominas, Jordi; Rowlands, Charlie; Megaw, Roly; Lampe, Anne K.; Cremers, Frans P. M.; Farrar, Gwyneth Jane; Ellingford, Jamie M.; Kenna, Paul F.; Roosing, Susanne
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Defining inclusion criteria and endpoints for clinical trials: a prospective cross-sectional study in CRB1-associated retinal dystrophies
err2021-02-02
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errTalib, Mays; van Schooneveld, Mary J.; Wijnholds, Jan; van Genderen, Maria M.; Schalij-Delfos, Nicoline E.; Talsma, Herman E.; Florijn, Ralph J.; ten Brink, Jacoline B.; Cremers, Frans P. M.; Thiadens, Alberta A. H. J.; van den Born, L. Ingeborgh; Hoyng, Carel B.; Meester-Smoor, Magda A.; Bergen, Arthur A.; Boon, Camiel J. F.
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Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa显性视网膜色素变性的结构变异创造了新的拓扑相关结构域和异位视网膜增强子-基因接触
err2020-11-01
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errde Bruijn, Suzanne E.; Fiorentino, Alessia; Ottaviani, Daniele; Fanucchi, Stephanie; Melo, Uira S.; Corral-Serrano, Julio C.; Mulders, Timo; Georgiou, Michalis; Rivolta, Carlo; Pontikos, Nikolas; Arno, Gavin; Roberts, Lisa; Greenberg, Jacquie; Albert, Silvia; Gilissen, Christian; Aben, Marco; Rebello, George; Mead, Simon; Raymond, F. Lucy; Corominas, Jordi; Smith, Claire E. L.; Kremer, Hannie; Downes, Susan; Black, Graeme C.; Webster, Andrew R.; Inglehearn, Chris F.; van den Born, L. Ingeborgh; Koenekoop, Robert K.; Michaelides, Michel; Ramesar, Raj S.; Hoyng, Carel B.; Mundlos, Stefan; Mhlanga, Musa M.; Cremers, Frans P. M.; Cheetham, Michael E.; Roosing, Susanne; Hardcastle, Alison J.
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Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics通过整合基因组学和转录组学解决1054 Stargardt病先证者的ABCA4暗物质
err2020-07-01
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errKhan, Mubeen; Cornelis, Stephanie S.; Del Pozo-Valero, Marta; Whelan, Laura; Runhart, Esmee H.; Mishra, Ketan; Bults, Femke; AlSwaiti, Yahya; AlTalbishi, Alaa; De Baere, Elfride; Banfi, Sandro; Banin, Eyal; Bauwens, Miriam; Ben-Yosef, Tamar; Boon, Camiel J. F.; van den Born, L. Ingeborgh; Defoort, Sabine; Devos, Aurore; Dockery, Adrian; Dudakova, Lubica; Fakin, Ana; Farrar, G. Jane; Sallum, Juliana Maria Ferraz; Fujinami, Kaoru; Gilissen, Christian; Glavac, Damjan; Gorin, Michael B.; Greenberg, Jacquie; Hayashi, Takaaki; Hettinga, Ymkje M.; Hoischen, Alexander; Hoyng, Carel B.; Hufendiek, Karsten; Jaegle, Herbert; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Klaver, Caroline C. W.; Kousal, Bohdan; Lamey, Tina M.; MacDonald, Ian M.; Matynia, Anna; McLaren, Terri L.; Mena, Marcela D.; Meunier, Isabelle; Miller, Rianne; Newman, Hadas; Ntozini, Buhle; Oldak, Monika; Pieterse, Marc; Podhajcer, Osvaldo L.; Puech, Bernard; Ramesar, Raj; Ruether, Klaus; Salameh, Manar; Salles, Mariana Vallim; Sharon, Dror; Simonelli, Francesca; Spital, Georg; Steehouwer, Marloes; Szaflik, Jacek P.; Thompson, Jennifer A.; Thuillier, Caroline; Tracewska, Anna M.; van Zweeden, Martine; Vincent, Andrea L.; Zanlonghi, Xavier; Liskova, Petra; Stoehr, Heidi; Roach, John N. De; Ayuso, Carmen; Roberts, Lisa; Weber, Bernhard H. F.; Dhaenens, Claire-Marie; Cremers, Frans P. M.
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Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles
err2019-10-16
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errRunhart, Esmee H.; Valkenburg, Dyon; Cornelis, Stephanie S.; Khan, Mubeen; Sangermano, Riccardo; Albert, Silvia; Bax, Nathalie M.; Astuti, Galuh D. N.; Gilissen, Christian; Pott, Jan-Willem R.; Verheij, Joke B. G. M.; Blokland, Ellen A. W.; Cremers, Frans P. M.; van den Born, L. Ingeborgh; Hoyng, Carel B.
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Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides
err2019-08-01
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errSangermano, Riccardo; Garanto, Alejandro; Khan, Mubeen; Runhart, Esmee H.; Bauwens, Miriam; Bax, Nathalie M.; van den Born, L. Ingeborgh; Khan, Muhammad Imran; Cornelis, Stephanie S.; Verheij, Joke B. G. M.; Pott, Jan-Willem R.; Thiadens, Alberta A. H. J.; Klaver, Caroline C. W.; Puech, Bernard; Meunier, Isabelle; Naessens, Sarah; Arno, Gavin; Fakin, Ana; Carss, Keren J.; Raymond, F. Lucy; Webster, Andrew R.; Dhaenens, Claire-Marie; Stoehr, Heidi; Grassmann, Felix; Weber, Bernhard H. F.; Hoyng, Carel B.; De Baere, Elfride; Albert, Silvia; Collin, Rob W. J.; Cremers, Frans P. M.
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Extending the Spectrum of EYS-Associated Retinal Disease to Macular Dystrophy将与EYS相关的视网膜疾病的范围扩展到黄斑营养不良
err2019-05-10
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errPierrache, Laurence H. M.; Messchaert, Muriel; Thiadens, Alberta A. H. J.; Haer-Wigman, Lonneke; de Jong-Hesse, Yvonne; van Zelst-Stams, Wendy A. G.; Collin, Rob W. J.; Klaver, Caroline C. W.; van den Born, L. Ingeborgh
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