Search Results - "Pott, Jan W"

Treatment evaluation by volumetric segmentation in pediatric optic pathway glioma: evaluation of the effect of bevacizumab on intra-tumor components by Bennebroek, Carlien A., Schouten, Christiaan R., Montauban-van Swijndregt, Maartje C., Saeed, Peerooz, Porro, Giorgio L., Pott, Jan W. R., Dittrich, Anne T. M., Oostenbrink, Rianne, Schouten-van Meeteren, Antoinette Y., de Jong, Marcus C., de Graaf, Pim

“…Purpose Progressive pediatric optic pathway gliomas (OPGs) are treated by diverse systemic antitumor modalities. Refined insights on the course of…”
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LONGITUDINAL STUDY OF RPE65-ASSOCIATED INHERITED RETINAL DEGENERATIONS by Pierrache, Laurence H. M., Ghafaryasl, Babak, Khan, Muhammad I., Yzer, Susanne, van Genderen, Maria M., Schuil, José, Boonstra, F. Nienke, Pott, Jan W. R., de Faber, Jan Tjeerd H. N., Tjon-Fo-Sang, Martha J. H., Vermeer, Koenraad A., Cremers, Frans P. M., Klaver, Caroline C. W., van den Born, L. Ingeborgh

“…To study the disease course of RPE65-associated inherited retinal degenerations (IRDs) as a function of the genotype, define a critical age for blindness, and…”
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Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation by Dryja, Thaddeus P, Nishiguchi, Koji M, Sandberg, Michael A, Kooijman, Aart C, Martemyanov, Kirill A, Pott, Jan W. R, Hagstrom, Stephanie A, Arshavsky, Vadim Y, Berson, Eliot L

“…The RGS proteins are GTPase activating proteins that accelerate the deactivation of G proteins in a variety of signalling pathways in eukaryotes. RGS9…”
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EUNOS 2023 Practical Neuro-Ophthalmology Course: Groningen, The Netherlands, June 1st-2nd, 2023 by Plate, Charlotte M A, Mollan, Susan P, Pott, Jan W R

“…The European Neuro-Ophthalmology Society (EUNOS) practical neuro-ophthalmology course, henceforth referred to as the EUNOS course, took place in 2023 in…”
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Impact of Bevacizumab on Visual Function, Tumor Size, and Toxicity in Pediatric Progressive Optic Pathway Glioma: A Retrospective Nationwide Multicentre Study by Bennebroek, Carlien A M, van Zwol, Judith, Porro, Giorgio L, Oostenbrink, Rianne, Dittrich, Anne T M, Groot, Annabel L W, Pott, Jan W, Janssen, Etienne J M, Bauer, Noël J, van Genderen, Maria M, Saeed, Peerooz, Lequin, Maarten H, de Graaf, Pim, Schouten-van Meeteren, Antoinette Y N

“…Bevacizumab (BVZ) is used as a subsequent line of treatment for pediatric optic pathway glioma (OPG) in the case of progression. Data on the treatment effect…”
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Methylmalonic acid and homocysteine assessment in the detection of vitamin B12 deficiency in patients with bilateral visual loss by Pott, Jan W. R., Klein Wassink-Ruiter, Jolien S., van Vliet, Annemiek

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Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1 by Chan, Wai-Man, Andrews, Caroline, Dragan, Laryssa, Fredrick, Douglas, Armstrong, Linlea, Lyons, Christopher, Geraghty, Michael T, Hunter, David G, Yazdani, Ahmad, Traboulsi, Elias I, Pott, Jan W R, Gutowski, Nicholas J, Ellard, Sian, Young, Elizabeth, Hanisch, Frank, Koc, Feray, Schnall, Bruce, Engle, Elizabeth C

“…Congenital fibrosis of the extraocular muscles types 1 and 3 (CFEOM1/CFEOM3) are autosomal dominant strabismus disorders that appear to result from…”
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Diagnostic exome sequencing in 266 Dutch patients with visual impairment by Haer-Wigman, Lonneke, van Zelst-Stams, Wendy Ag, Pfundt, Rolph, van den Born, L Ingeborgh, Klaver, Caroline Cw, Verheij, Joke Bgm, Hoyng, Carel B, Breuning, Martijn H, Boon, Camiel Jf, Kievit, Anneke J, Verhoeven, Virginie Jm, Pott, Jan Wr, Sallevelt, Suzanne Ceh, van Hagen, Johanna M, Plomp, Astrid S, Kroes, Hester Y, Lelieveld, Stefan H, Hehir-Kwa, Jayne Y, Castelein, Steven, Nelen, Marcel, Scheffer, Hans, Lugtenberg, Dorien, Cremers, Frans Pm, Hoefsloot, Lies, Yntema, Helger G

“…Inherited eye disorders have a large clinical and genetic heterogeneity, which makes genetic diagnosis cumbersome. An exome-sequencing approach was developed…”
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Development of Refractive Errors—What Can We Learn From Inherited Retinal Dystrophies? by Hendriks, Michelle, Verhoeven, Virginie J.M., Buitendijk, Gabriëlle H.S., Polling, Jan Roelof, Meester-Smoor, Magda A., Hofman, Albert, van Huet, Ramon A., Klevering, B. Jeroen, Bax, Nathalie M., Lambertus, Stanley, Klaver, Caroline C.W., Hoyng, Carel B., Oomen, Clasien J., van Zelst-Stams, Wendy A., Cremers, Frans P., Plomp, Astrid S., van Schooneveld, Mary J., van Genderen, Mies M., Schuil, José, Boonstra, F. Nienke, Schlingemann, Reinier O., Bergen, Arthur A., Pierrache, Laurence, Meester-Smoor, Magda, van den Born, L. Ingeborgh, Boon, Camiel J., Pott, Jan W.R., van Leeuwen, Redmer, Kroes, Hester Y, de Jong-Hesse, Yvonne, Kamermans, Maarten, Ingeborgh van den Born, L., Klaver, Caroline C.W.

“…It is unknown which retinal cells are involved in the retina-to-sclera signaling cascade causing myopia. As inherited retinal dystrophies (IRD) are…”
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