Search Results - "DEN HOLLANDER, AI"

Y chromosome mosaicism is associated with age-related macular degeneration by Grassmann, Felix, Kiel, Christina, den Hollander, Anneke I, Weeks, Daniel E, Lotery, Andrew, Cipriani, Valentina, Weber, Bernhard H F

“…Age-related macular degeneration (AMD) is the leading cause of blindness in industrialised countries, and thereby a major individual but also a socio-economic…”
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Chronic central serous chorioretinopathy: long-term follow-up and vision-related quality of life by Breukink, Myrte B, Dingemans, Alexander Jm, den Hollander, Anneke I, Keunen, Jan Ee, MacLaren, Robert E, Fauser, Sascha, Querques, Giuseppe, Hoyng, Carel B, Downes, Susan M, Boon, Camiel Jf

“…To describe the clinical findings and long-term outcome of patients with chronic central serous chorioretinopathy (cCSC). This was a retrospective case series…”
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Mutations in the CEP290 ( NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis by den Hollander, Anneke I., Koenekoop, Robert K., Yzer, Suzanne, Lopez, Irma, Arends, Maarten L., Voesenek, Krysta E.J., Zonneveld, Marijke N., Strom, Tim M., Meitinger, Thomas, Brunner, Han G., Hoyng, Carel B., van den Born, L. Ingeborgh, Rohrschneider, Klaus, Cremers, Frans P.M.

“…Leber congenital amaurosis (LCA) is one of the main causes of childhood blindness. To date, mutations in eight genes have been described, which together…”
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Genotype‐phenotype correlations of low‐frequency variants in the complement system in renal disease and age‐related macular degeneration by Geerlings, M.J., Volokhina, E.B., de Jong, E.K., van de Kar, N., Pauper, M., Hoyng, C.B., van den Heuvel, L.P., den Hollander, A.I.

“…Genetic alterations in the complement system have been linked to a variety of diseases, including atypical hemolytic uremic syndrome (aHUS), C3 glomerulopathy…”
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Identification of a 2 Mb Human Ortholog of Drosophila eyes shut/spacemaker that Is Mutated in Patients with Retinitis Pigmentosa by Collin, Rob W.J., Littink, Karin W., Klevering, B. Jeroen, van den Born, L. Ingeborgh, Koenekoop, Robert K., Zonneveld, Marijke N., Blokland, Ellen A.W., Strom, Tim M., Hoyng, Carel B., den Hollander, Anneke I., Cremers, Frans P.M.

“…In patients with autosomal-recessive retinitis pigmentosa (arRP), homozygosity mapping was performed for detection of regions harboring genes that might be…”
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Mutations in IMPG2, Encoding Interphotoreceptor Matrix Proteoglycan 2, Cause Autosomal-Recessive Retinitis Pigmentosa by Bandah-Rozenfeld, Dikla, Collin, Rob W.J., Banin, Eyal, Ingeborgh van den Born, L., Coene, Karlien L.M., Siemiatkowska, Anna M., Zelinger, Lina, Khan, Muhammad I., Lefeber, Dirk J., Erdinest, Inbar, Testa, Francesco, Simonelli, Francesca, Voesenek, Krysta, Blokland, Ellen A.W., Strom, Tim M., Klaver, Caroline C.W., Qamar, Raheel, Banfi, Sandro, Cremers, Frans P.M., Sharon, Dror, den Hollander, Anneke I.

“…Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal diseases caused by progressive degeneration of the photoreceptor cells. Using…”
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Extramacular drusen are highly associated with age-related macular degeneration, but not with CFH and ARMS2 genotypes by Ersoy, L, Schick, T, de Graft, D, Felsch, M, Hoyng, C B, den Hollander, A I, Kirchhof, B, Fauser, S, Liakopoulos, S

“…To evaluate the association of extramacular drusen (EMD) with age-related macular degeneration (AMD) and with complement factor H (CFH rs1061170) and…”
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A genetic variant in NRP1 is associated with worse response to ranibizumab treatment in neovascular age-related macular degeneration by Lorés-Motta, Laura, van Asten, Freekje, Muether, Philipp S, Smailhodzic, Dzenita, Groenewoud, Joannes M, Omar, Amer, Chen, John, Koenekoop, Robert K, Fauser, Sascha, Hoyng, Carel B, den Hollander, Anneke I, de Jong, Eiko K

“…OBJECTIVEThe aim of the study was to investigate the role of single-nucleotide polymorphisms (SNPs) located in the neuropilin-1 (NRP1) gene in treatment…”
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Genotyping Microarray (Disease Chip) for Leber Congenital Amaurosis: Detection of Modifier Alleles by Zernant, Jana, Kulm, Maigi, Dharmaraj, Sharola, den Hollander, Anneke I, Perrault, Isabelle, Preising, Markus N, Lorenz, Birgit, Kaplan, Josseline, Cremers, Frans P. M, Maumenee, Irene, Koenekoop, Robert K, Allikmets, Rando

“…Leber congenital amaurosis (LCA) is an early-onset inherited disorder of childhood blindness characterized by visual impairment noted soon after birth…”
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Association of eNOS and HSP70 gene polymorphisms with glaucoma in Pakistani cohorts by Ayub, Humaira, Khan, Muhammad Imran, Micheal, Shazia, Akhtar, Farah, Ajmal, Muhammad, Shafique, Sobia, Ali, Syeda Hafiza Benish, den Hollander, Anneke I, Ahmed, Asifa, Qamar, Raheel

“…To investigate the involvement of stress-regulating genes, endothelial nitric oxide synthase (eNOS) and heat shock protein 70 (HSP70) with primary open angle…”
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Alteration of retinal layers in healthy subjects over 60 years of age until nonagenarians by Altay, Lebriz, Jahn, Cheryl, Arikan Yorgun, Mücella, Caramoy, Albert, Schick, Tina, Hoyng, Carel B, den Hollander, Anneke I, Fauser, Sascha

“…To assess alterations of retinal layers in healthy subjects over 60 years old. Retinal layers of 160 healthy subjects (aged 60-100 years) without any retinal…”
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Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 ( CRB1) Gene by Hollander, Anneke I. den, Heckenlively, John R., van den Born, L. Ingeborgh, de Kok, Yvette J.M., van der Velde-Visser, Saskia D., Kellner, Ulrich, Jurklies, Bernhard, van Schooneveld, Mary J., Blankenagel, Anita, Rohrschneider, Klaus, Wissinger, Bernd, Cruysberg, Johan R.M., Deutman, August F., Brunner, Han G., Apfelstedt-Sylla, Eckart, Hoyng, Carel B., Cremers, Frans P.M.

“…Mutations in the crumbs homologue 1 ( CRB1) gene cause a specific form of retinitis pigmentosa (RP) that is designated “RP12” and is characterized by a…”
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CRB1 mutation spectrum in inherited retinal dystrophies by den Hollander, Anneke I., Davis, Jason, van der Velde-Visser, Saskia D., Zonneveld, Marijke N., Pierrottet, Chiara O., Koenekoop, Robert K., Kellner, Ulrich, van den Born, L. Ingeborgh, Heckenlively, John R., Hoyng, Carel B., Handford, Penny A., Roepman, Ronald, Cremers, Frans P.M.

“…Mutations in the Crumbs homologue 1 (CRB1) gene have been reported in patients with a variety of autosomal recessive retinal dystrophies, including retinitis…”
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Molecular genetics of Leber congenital amaurosis by Cremers, Frans P. M., van den Hurk, José A. J. M., den Hollander, Anneke I.

“…Leber congenital amaurosis (LCA) is the most common inherited cause of blindness in childhood and is characterised by a severe retinal dystrophy before the age…”
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Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12) by Cremers, Frans P.M, den Hollander, Anneke I, ten Brink, Jacoline B, de Kok, Yvette J.M, van Soest, Simone, van den Born, L. Ingeborgh, van Driel, Marc A, van de Pol, Dorien J.R, Payne, Annette M, Bhattacharya, Shomi S, Kellner, Ulrich, Hoyng, Carel B, Westerveld, Andries, Brunner, Han G, Bleeker-Wagemakers, Elisabeth M, Deutman, August F, Heckenlively, John R, Bergen, Arthur A.B

“…Retinitis pigmentosa (RP) comprises a clinically and genetically heterogeneous group of diseases that afflicts approximately 1.5 million people worldwide…”
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Genetics of Leber congenital amaurosis by DEN HOLLANDER, AI, ROEPMAN, R, KOENEKOOP, RK, CREMERS, FPM

“…Purpose To give an overview of our current knowledge of the genetic causes of Leber congenital amaurosis (LCA). Methods Current literature on the genetic…”
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Autosomal Recessive Retinitis Pigmentosa and Cone-rod Dystrophy Caused by Splice Site Mutations in the Stargardt's Disease Gene ABCR by Cremers, Frans P. M., van de Pol, Dorien J. R., van Driel, Marc, den Hollander, Anneke I., van Haren, Frank J. J., Knoers, Nine V. A. M., Tijmes, Nel, Bergen, Arthur A. B., Rohrschneider, Klaus, Blankenagel, Anita, Pinckers, Alfred J. L. G., Deutman, August F., Hoyng, Carel B.

“…Ophthalmological and molecular genetic studies were performed in a consanguineous family with individuals showing either retinitis pigmentosa (RP) or cone-rod…”
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Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping by Siemiatkowska, Anna M, Arimadyo, Kentar, Moruz, Luminita M, Astuti, Galuh D N, de Castro-Miro, Marta, Zonneveld, Marijke N, Strom, Tim M, de Wijs, Ilse J, Hoefsloot, Lies H, Faradz, Sultana M H, Cremers, Frans P M, den Hollander, Anneke I, Collin, Rob W J

“…Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous retinal disorder. Despite tremendous knowledge about the genes involved in RP, little…”
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Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan by Khan, MI, Ajmal, M, Micheal, S, Azam, M, Hussain, A, Shahzad, A, Venselaar, H, Bokhari, H, de Wijs, IJ, Hoefsloot, LH, Waheed, NK, Collin, RWJ, den Hollander, AI, Qamar, R, Cremers, FPM

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XRCC1 and XPD DNA repair gene polymorphisms: a potential risk factor for glaucoma in the Pakistani population by Yousaf, Sajeela, Khan, Muhammad Imran, Micheal, Shazia, Akhtar, Farah, Ali, Syeda Hafiza Benish, Riaz, Moeen, Ali, Mahmood, Lall, Pramila, Waheed, Nadia Khalida, den Hollander, Anneke I, Ahmed, Asifa, Qamar, Raheel

“…The present study was designed to determine the association of polymorphisms of the DNA repair genes X-ray cross-complementing group 1 (XRCC1) (c.1316G>A…”
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