Search Results - "Zaeytijd, Julie De"

Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families by Van Cauwenbergh, Caroline, Coppieters, Frauke, Roels, Dimitri, De Jaegere, Sarah, Flipts, Helena, De Zaeytijd, Julie, Walraedt, Sophie, Claes, Charlotte, Fransen, Erik, Van Camp, Guy, Depasse, Fanny, Casteels, Ingele, de Ravel, Thomy, Leroy, Bart P, De Baere, Elfride

“…Autosomal dominant retinitis pigmentosa (adRP) is characterized by an extensive genetic heterogeneity, implicating 27 genes, which account for 50 to 70% of…”
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Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant by Strubbe, Ine, Van Cauwenbergh, Caroline, De Zaeytijd, Julie, De Jaegere, Sarah, De Bruyne, Marieke, Rosseel, Toon, Van de Sompele, Stijn, De Baere, Elfride, Leroy, Bart P.

“…We describe both phenotype and pathogenesis in two male siblings with typical retinitis pigmentosa (RP) and the potentially X-linked RP (XLRP) carrier…”
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Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect by Cideciyan, Artur V., Jacobson, Samuel G., Drack, Arlene V., Ho, Allen C., Charng, Jason, Garafalo, Alexandra V., Roman, Alejandro J., Sumaroka, Alexander, Han, Ian C., Hochstedler, Maria D., Pfeifer, Wanda L., Sohn, Elliott H., Taiel, Magali, Schwartz, Michael R., Biasutto, Patricia, Wit, Wilma de, Cheetham, Michael E., Adamson, Peter, Rodman, David M., Platenburg, Gerard, Tome, Maria D., Balikova, Irina, Nerinckx, Fanny, Zaeytijd, Julie De, Van Cauwenbergh, Caroline, Leroy, Bart P., Russell, Stephen R.

“…Photoreceptor ciliopathies constitute the most common molecular mechanism of the childhood blindness Leber congenital amaurosis. Ten patients with Leber…”
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Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial by Russell, Stephen R., Drack, Arlene V., Cideciyan, Artur V., Jacobson, Samuel G., Leroy, Bart P., Van Cauwenbergh, Caroline, Ho, Allen C., Dumitrescu, Alina V., Han, Ian C., Martin, Mitchell, Pfeifer, Wanda L., Sohn, Elliott H., Walshire, Jean, Garafalo, Alexandra V., Krishnan, Arun K., Powers, Christian A., Sumaroka, Alexander, Roman, Alejandro J., Vanhonsebrouck, Eva, Jones, Eltanara, Nerinckx, Fanny, De Zaeytijd, Julie, Collin, Rob W. J., Hoyng, Carel, Adamson, Peter, Cheetham, Michael E., Schwartz, Michael R., den Hollander, Wilhelmina, Asmus, Friedrich, Platenburg, Gerard, Rodman, David, Girach, Aniz

“…CEP290-associated Leber congenital amaurosis type 10 (LCA10) is a retinal disease resulting in childhood blindness. Sepofarsen is an RNA antisense…”
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Anterior scleral thickness in Marfan syndrome: A quantitative analysis by Alluyn, Lien, Dequeker, Laure, Dhaese, Siska, Consejo, Alejandra, De Zaeytijd, Julie, Leroy, Bart P., De Backer, Julie, Kreps, Elke O.

“…Purpose To investigate the anterior scleral thickness (AST) in patients with Marfan syndrome (MFS). Methods A prospective, cross‐sectional study was conducted…”
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Cognitive outcomes in Susac syndrome: A 2‐year neuropsychological follow‐up study by Van Vrekhem, Tineke, Miatton, Marijke, Hemelsoet, Dimitri, Van Hijfte, Liesbeth, Dekeyser, Cathérine, De Zaeytijd, Julie, Van Driessche, Veroniek, Van Hoecke, Helen, Maes, Leen, Laureys, Guy

“…Background and purpose Susac syndrome (SuS) is a rare, autoimmune, neurological disease characterized by a clinical triad of branch retinal artery occlusion,…”
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Expanding the Spectrum of Alkali Retinopathy: Maculopathy following Alkali Burn by Vanclooster, Andreas, De Zaeytijd, Julie, Roels, Dimitri

“…Ocular alkali burns are known to cause profound damage to the anterior segment, especially the cornea and conjunctiva. However, rarely, additional adjacent…”
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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 by Almoallem, Basamat, Arno, Gavin, De Zaeytijd, Julie, Verdin, Hannah, Balikova, Irina, Casteels, Ingele, de Ravel, Thomy, Hull, Sarah, Suzani, Martina, Destrée, Anne, Peng, Michelle, Williams, Denise, Ainsworth, John R., Webster, Andrew R., Leroy, Bart P., Moore, Anthony T., De Baere, Elfride

“…This study aimed to genetically and clinically characterize a unique cohort of 25 individuals from 21 unrelated families with autosomal recessive nanophthalmos…”
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Gonadal Mosaicism as a Rare Inheritance Pattern in Recessive Genodermatoses: Report of Two Cases with Pseudoxanthoma Elasticum and Literature Review by Dangreau, Lisa, Hosen, Mohammad J, De Zaeytijd, Julie, Leroy, Bart P, Coucke, Paul J, Vanakker, Olivier M

“…Germline mosaicism in autosomal recessive disorders is considered a rare disease mechanism with important consequences for diagnosis and patient counseling. In…”
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Visual Prognosis in USH2A -Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa by Pierrache, Laurence H.M., MD, Hartel, Bas P., MD, van Wijk, Erwin, PhD, Meester-Smoor, Magda A., PhD, Cremers, Frans P.M., PhD, de Baere, Elfride, MD, PhD, de Zaeytijd, Julie, MD, van Schooneveld, Mary J., MD, PhD, Cremers, Cor W.R.J., MD, PhD, Dagnelie, Gislin, PhD, Hoyng, Carel B., MD, PhD, Bergen, Arthur A., PhD, Leroy, Bart P., MD, PhD, Pennings, Ronald J.E., MD, PhD, van den Born, L. Ingeborgh, MD, PhD, Klaver, Caroline C.W., MD, PhD

“…Purpose USH2A mutations are an important cause of retinitis pigmentosa (RP) with or without congenital sensorineural hearing impairment. We studied…”
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Characterization of Cardiovascular Involvement in Pseudoxanthoma Elasticum Families by Campens, Laurence, Vanakker, Olivier M, Trachet, Bram, Segers, Patrick, Leroy, Bart P, De Zaeytijd, Julie, Voet, Dirk, De Paepe, Anne, De Backer, Tine, De Backer, Julie

“…OBJECTIVE—Pseudoxanthoma elasticum (PXE) is an autosomal recessive connective tissue disorder with involvement of the skin, the retina, and the cardiovascular…”
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An update on the ocular phenotype in patients with pseudoxanthoma elasticum by Gliem, Martin, Zaeytijd, Julie De, Finger, Robert P, Holz, Frank G, Leroy, Bart P, Charbel Issa, Peter

“…Pseudoxanthoma elasticum (PXE) is an inherited multi-system disorder characterized by ectopic mineralization and fragmentation of elastic fibers in the skin,…”
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Combining Surgery, Radiotherapy, and Topical Chemotherapy to Prevent Primary Orbital Exenteration for Atypical Caruncular Melanoma: A Case Report by De Landsheer, Cédric, Merlevede, Valentien, Jacobs, Celine, Van Dorpe, Jo, De Zaeytijd, Julie, Ninclaus, Virginie G.S., Roels, Dimitri

“…Abstract Introduction: This case report demonstrates the possibility of successful eye and vision-sparing therapy for caruncular melanoma. Case Presentation:…”
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Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss by Ascari, Giulia, Rendtorff, Nanna D, De Bruyne, Marieke, De Zaeytijd, Julie, Van Lint, Michel, Bauwens, Miriam, Van Heetvelde, Mattias, Arno, Gavin, Jacob, Julie, Creytens, David, Van Dorpe, Jo, Van Laethem, Thalia, Rosseel, Toon, De Pooter, Tim, De Rijk, Peter, De Coster, Wouter, Menten, Björn, Rey, Alfredo Dueñas, Strazisar, Mojca, Bertelsen, Mette, Tranebjaerg, Lisbeth, De Baere, Elfride

“…Inactivating variants as well as a missense variant in the centrosomal gene have been identified in autosomal recessive cone-rod dystrophy with hearing loss…”
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An atypical case of neurosarcoidosis presenting with neovascular glaucoma by Vereecken, Melissa, Hollanders, Karolien, De Bruyn, Deborah, Ninclaus, Virginie, De Zaeytijd, Julie, De Schryver, Ilse

“…Background Sarcoidosis, a multisystem, granulomatous disorder, sometimes manifests with a neuro-ophthalmic subtype. The latter can pose a diagnostic challenge,…”
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High-resolution optical coherence tomography, autofluorescence, and infrared reflectance imaging in Sjögren reticular dystrophy by Schauwvlieghe, Pieter-Paul, Torre, Kara Della, Coppieters, Frauke, Van Hoey, Anneleen, De Baere, Elfride, De Zaeytijd, Julie, Leroy, Bart P, Brodie, Scott E

“…To describe the phenotype of three cases of Sjögren reticular dystrophy in detail, including high-resolution optical coherence tomography, autofluorescence…”
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Vitreous Hemorrhage as Presenting Sign of Retinal Arteriovenous Malformation by De Zaeytijd, Julie, Leroy, Bart P., Nerinckx, Fanny, Accou, Geraldine P. B. M.

“…Objective. To describe a patient with vitreous hemorrhage and peripheral retinal ischemia, eventually diagnosed with an underlying retinal arteriovenous…”
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Clinical and subclinical findings in heterozygous ABCC6 carriers: results from a Belgian cohort and clinical practice guidelines by Nollet, Lukas, Campens, Laurence, De Zaeytijd, Julie, Leroy, Bart, Hemelsoet, Dimitri, Coucke, Paul J, Vanakker, Olivier M

“…Biallelic pathogenic variants in the ( ) gene cause pseudoxanthoma elasticum, a multisystemic ectopic calcification disorder, while heterozygous variants are…”
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ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants by Bauwens, Miriam, Garanto, Alejandro, Sangermano, Riccardo, Naessens, Sarah, Weisschuh, Nicole, De Zaeytijd, Julie, Khan, Mubeen, Sadler, Françoise, Balikova, Irina, Van Cauwenbergh, Caroline, Rosseel, Toon, Bauwens, Jim, De Leeneer, Kim, De Jaegere, Sarah, Van Laethem, Thalia, De Vries, Meindert, Carss, Keren, Arno, Gavin, Fakin, Ana, Webster, Andrew R., de Ravel de l’Argentière, Thomy J. L., Sznajer, Yves, Vuylsteke, Marnik, Kohl, Susanne, Wissinger, Bernd, Cherry, Timothy, Collin, Rob W. J., Cremers, Frans P. M., Leroy, Bart P., De Baere, Elfride

“…Purpose ABCA4 -associated disease, a recessive retinal dystrophy, is hallmarked by a large proportion of patients with only one pathogenic ABCA4 variant,…”
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CRB1 -associated retinal dystrophies in a Belgian cohort: genetic characteristics and long-term clinical follow-up by Talib, Mays, Van Cauwenbergh, Caroline, De Zaeytijd, Julie, Van Wynsberghe, David, De Baere, Elfride, Boon, Camiel J F, Leroy, Bart Peter

“…To investigate the natural history in a Belgian cohort of -associated retinal dystrophies. An in-depth retrospective study focusing on visual function and…”
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