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Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study Igelman, Austin D.; White, Elizabeth; Tayyib, Alaa; Everett, Lesley; Vincent, Ajoy; Heon, Elise; Zeitz, Christina; Michaelides, Michel; Mahroo, Omar A.; Katta, Mohamed; Webster, Andrew; Preising, Markus; Lorenz, Birgit; Khateb, Samer; Banin, Eyal; Sharon, Dror; Luski, Shahar; Van Den Broeck, Filip; Leroy, Bart Peter; De Baere, Elfride; Walraedt, Sophie; Stingl, Katarina; Kuehlewein, Laura; Kohl, Susanne; Reith, Milda; Fulton, Anne; Raghuram, Aparna; Meunier, Isabelle; Dollfus, Helene; Aleman, Tomas S.; Bedoukian, Emma C.; O'Neil, Erin C.; Krauss, Emily; Vincent, Andrea; Jordan, Charlotte; Iannaccone, Alessandro; Sen, Parveen; Sundaramurthy, Srilekha; Nagasamy, Soumittra; Balikova, Irina; Casteels, Ingele; Borooah, Shyamanga; Yassin, Shaden; Nagiel, Aaron; Schwartz, Hillary; Zanlonghi, Xavier; Gottlob, Irene; Mclean, Rebecca J.; Munier, Francis L.; Stephenson, Andrew; Sisk, Robert; Koenekoop, Robert; Wilson, Lorri B.; Fredrick, Douglas; Choi, Dongseok; Yang, Paul; Pennesi, Mark Edward 分享 收藏
Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome Delafontaine, Selket; Iannuzzo, Alberto; Bigley, Tarin M.; Mylemans, Bram; Rana, Ruchit; Baatsen, Pieter; Poli, Maria Cecilia; Rymen, Daisy; Jansen, Katrien; Mekahli, Djalila; Casteels, Ingele; Cassiman, Catherine; Demaerel, Philippe; Lepelley, Alice; Fremond, Marie -Louise; Schrijvers, Rik; Bossuyt, Xavier; Vints, Katlijn; Huybrechts, Wim; Tacine, Rachida; Willekens, Karen; Corveleyn, Anniek; Boeckx, Bram; Baggio, Marco; Ehlers, Lisa; Munck, Sebastian; Lambrechts, Diether; Voet, Arnout; Moens, Leen; Bucciol, Giorgia; Cooper, Megan A.; Davis, Carla M.; Delon, Jerome; Meyts, Isabelle 分享 收藏
In search of viable SARS-CoV-2 in the tear film: a prospective clinical study in hospitalized symptomatic patients (vol 28, pg 1172, 2022) Leysen, Laura; Delbeke, Heleen; Desmet, Stefanie; Schauwvlieghe, Pieter-Paul; Maes, Piet; Blanckaert, Gauthier; Matthys, Emiel; Joossens, Marie; Casteels, Ingele 分享 收藏
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Hematopoietic Stem Cell Transplantation Cures Chronic Aichi Virus Infection in a Patient with X-linked Agammaglobulinemia Bucciol, Giorgia; Tousseyn, Thomas; Jansen, Katrien; Casteels, Ingele; Tangye, Stuart G.; Breuer, Judy; Brown, Julianne R.; Wollants, Elke; Van Ranst, Marc; Moens, Leen; Mekahli, Djalila; Meyts, Isabelle 分享 收藏
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The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56 Almoallem, Basamat; Arno, Gavin; De Zaeytijd, Julie; Verdin, Hannah; Balikova, Irina; Casteels, Ingele; de Ravel, Thomy; Hull, Sarah; Suzani, Martina; Destree, Anne; Peng, Michelle; Williams, Denise; Ainsworth, John R.; Webster, Andrew R.; Leroy, Bart P.; Moore, Anthony T.; De Baere, Elfride 分享 收藏
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene Felden, Julia; Baumann, Britta; Ali, Manir; Audo, Isabelle; Ayuso, Carmen; Bocquet, Beatrice; Casteels, Ingele; Garcia-Sandoval, Blanca; Jacobson, Samuel G.; Jurklies, Bernhard; Kellner, Ulrich; Kessel, Line; Lorenz, Birgit; McKibbin, Martin; Meunier, Isabelle; deRavel, Thorny; Rosenberg, Thomas; Ruether, Klaus; Vadala, Maria; Wissinger, Bernd; Stingl, Katarina; Kohl, Susanne 分享 收藏
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders 遗传性视网膜疾病中缺失的基因缺陷在哪里？内含子和同义变体至少与4% 种CACNA1F-mediated遗传性视网膜疾病有关 Zeitz, Christina; Michiels, Christelle; Neuille, Marion; Friedburg, Christoph; Condroyer, Christel; Boyard, Fiona; Antonio, Aline; Bouzidi, Nassima; Milicevic, Diana; Veaux, Robin; Tourville, Aurore; Zoumba, Axelle; Seneina, Imene; Foussard, Marine; Andrieu, Camille; Preising, Markus N.; Blanchard, Steven; Saraiva, Jean-Paul; Mesrob, Lilia; Le Floch, Edith; Jubin, Claire; Meyer, Vincent; Blanche, Helene; Boland, Anne; Deleuze, Jean-Francois; Sharon, Dror; Drumare, Isabelle; Defoort-Dhellemmes, Sabine; De Baere, Elfride; Leroy, Bart P.; Zanlonghi, Xavier; Casteels, Ingele; de Ravel, Thorny J.; Balikova, Irina; Koenekoop, Rob K.; Laffargue, Fanny; McLean, Rebecca; Gottlob, Irene; Bonneau, Dominique; Schorderet, Daniel F.; Munier, Francis L.; McKibbin, Martin; Prescott, Katrina; Pelletier, Valerie; Dollfus, Helene; Perdomo-Trujillo, Yaumara; Faure, Celine; Reiff, Charlotte; Wissinger, Bernd; Meunier, Isabelle; Kohl, Susanne; Banin, Eyal; Zrenner, Eberhart; Jurklies, Bernhard; Lorenz, Birgit; Sahel, Jose-Alain; Audo, Isabelle 分享 收藏
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Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome Heremans, Jessica; Garcia-Perez, Josselyn E.; Turro, Ernest; Schlenner, Susan M.; Casteels, Ingele; Collin, Roxanne; de Zegher, Francis; Greene, Daniel; Humblet-Baron, Stephanie; Lesage, Sylvie; Matthys, Patrick; Penkett, Christopher J.; Put, Karen; Stirrups, Kathleen; Thys, Chantal; Van Geet, Chris; Van Nieuwenhove, Erika; Wouters, Carine; Meyts, Isabelle; Freson, Kathleen; Liston, Adrian 分享 收藏
Blau Syndrome-Associated Uveitis: Preliminary Results From an International Prospective Interventional Case Series Sarens, Inge L.; Casteels, Ingele; Anton, Jordi; Bader-Meunier, Brigitte; Brissaud, Philippe; Chedeville, Gaelle; Cimaz, Rolando; Dick, Andrew D.; Espada, Graciella; Fernandez-Martin, Jorge; Guly, Catherine M.; Hachulla, Eric; Harjacek, Miroslav; Khubchandani, Raju; Mackensen, Friederike; Merino, Rosa; Modesto, Consuelo; Naranjo, Antonio; Oliveira-Knupp, Sheila; Ozen, Seza; Pajot, Christine; Ramanan, Athimalaipet V.; Russo, Ricardo; Susic, Gordana; Thatayatikom, Akaluck; Thomee, Caroline; Vastert, Sebastiaan; Bertin, John; Arostegui, Juan I.; Rose, Carlos D.; Wouters, Carine H. 分享 收藏
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Long-Term Effect of Gene Therapy on Leber's Congenital Amaurosis Bainbridge, J. W. B.; Mehat, M. S.; Sundaram, V.; Robbie, S. J.; Barker, S. E.; Ripamonti, C.; Georgiadis, A.; Mowat, F. M.; Beattie, S. G.; Gardner, P. J.; Feathers, K. L.; Luong, V. A.; Yzer, S.; Balaggan, K.; Viswanathan, A.; de Ravel, T. J. L.; Casteels, I.; Holder, G. E.; Tyler, N.; Fitzke, F. W.; Weleber, R. G.; Nardini, M.; Moore, A. T.; Thompson, D. A.; Petersen-Jones, S. M.; Michaelides, M.; van den Born, L. I.; Stockman, A.; Smith, A. J.; Rubin, G.; Ali, R. R. 分享 收藏
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome Schlogel, Matthieu J.; Mendola, Antonella; Fastre, Elodie; Vasudevan, Pradeep; Devriendt, Koen; de Ravel, Thomy J. L.; Van Esch, Hilde; Casteels, Ingele; Arroyo Carrera, Ignacio; Cristofoli, Francesca; Fieggen, Karen; Jones, Katheryn; Lipson, Mark; Balikova, Irina; Singer, Ami; Soller, Maria; Mercedes Villanueva, Maria; Revencu, Nicole; Boon, Laurence M.; Brouillard, Pascal; Vikkula, Miikka 分享 收藏
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