Search Results - "Ingeborgh van den Born, L."

Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome by Bujakowska, Kinga M, Zhang, Qi, Siemiatkowska, Anna M, Liu, Qin, Place, Emily, Falk, Marni J, Consugar, Mark, Lancelot, Marie-Elise, Antonio, Aline, Lonjou, Christine, Carpentier, Wassila, Mohand-Saïd, Saddek, den Hollander, Anneke I, Cremers, Frans P M, Leroy, Bart P, Gai, Xiaowu, Sahel, José-Alain, van den Born, L Ingeborgh, Collin, Rob W J, Zeitz, Christina, Audo, Isabelle, Pierce, Eric A

“…Primary cilia are sensory organelles present on most mammalian cells. The assembly and maintenance of primary cilia are facilitated by intraflagellar transport…”
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Oral 9-cis retinoid for childhood blindness due to Leber congenital amaurosis caused by RPE65 or LRAT mutations: an open-label phase 1b trial by Koenekoop, Robert K, Prof, Sui, Ruifang, MD, Sallum, Juliana, MD, van den Born, L Ingeborgh, MD, Ajlan, Radwan, MBBCh, Khan, Ayesha, MD, den Hollander, Anneke I, PhD, Cremers, Frans P M, Prof, Mendola, Janine D, PhD, Bittner, Ava K, OD/PhD, Dagnelie, Gislin, PhD, Schuchard, Ronald A, PhD, Saperstein, David A, MD

“…Summary Background Leber congenital amaurosis, caused by mutations in RPE65 and LRAT , is a severe form of inherited retinal degeneration leading to blindness…”
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Homozygous variants in KIAA1549 , encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa by de Bruijn, Suzanne E, Verbakel, Sanne K, de Vrieze, Erik, Kremer, Hannie, Cremers, Frans P M, Hoyng, Carel B, van den Born, L Ingeborgh, Roosing, Susanne

“…Retinitis pigmentosa (RP) shows substantial genetic heterogeneity. It has been estimated that in approximately 60%-80% of RP cases, the genetic diagnosis can…”
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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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Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy by Roosing, Susanne, Lamers, Ideke J.C., de Vrieze, Erik, van den Born, L. Ingeborgh, Lambertus, Stanley, Arts, Heleen H., Boldt, Karsten, de Baere, Elfride, Klaver, Caroline C.W., Coppieters, Frauke, Koolen, David A., Lugtenberg, Dorien, Neveling, Kornelia, van Reeuwijk, Jeroen, Ueffing, Marius, van Beersum, Sylvia E.C., Zonneveld-Vrieling, Marijke N., Peters, Theo A., Hoyng, Carel B., Kremer, Hannie, Hetterschijt, Lisette, Letteboer, Stef J.F., van Wijk, Erwin, Roepman, Ronald, den Hollander, Anneke I., Cremers, Frans P.M.

“…Exome sequencing revealed a homozygous missense mutation (c.317C>G [p.Arg106Pro]) in POC1B, encoding POC1 centriolar protein B, in three siblings with…”
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Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases by Reurink, Janine, Dockery, Adrian, Oziębło, Dominika, Farrar, G. Jane, Ołdak, Monika, ten Brink, Jacoline B., Bergen, Arthur A., Rinne, Tuula, Yntema, Helger G., Pennings, Ronald J. E., van den Born, L. Ingeborgh, Aben, Marco, Oostrik, Jaap, Venselaar, Hanka, Plomp, Astrid S., Khan, M. Imran, van Wijk, Erwin, Cremers, Frans P. M., Roosing, Susanne, Kremer, Hannie

“…A substantial proportion of subjects with autosomal recessive retinitis pigmentosa (arRP) or Usher syndrome type II (USH2) lacks a genetic diagnosis due to…”
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Antisense Oligonucleotide-Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655A>G Mutation in CEP290 by Duijkers, Lonneke, van den Born, L Ingeborgh, Neidhardt, John, Bax, Nathalie M, Pierrache, Laurence H M, Klevering, B Jeroen, Collin, Rob W J, Garanto, Alejandro

“…Leber congenital amaurosis (LCA) is a rare inherited retinal disorder affecting approximately 1:50,000 people worldwide. So far, mutations in 25 genes have…”
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Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases by Fadaie, Zeinab, Whelan, Laura, Ben-Yosef, Tamar, Dockery, Adrian, Corradi, Zelia, Gilissen, Christian, Haer-Wigman, Lonneke, Corominas, Jordi, Astuti, Galuh D. N., de Rooij, Laura, van den Born, L. Ingeborgh, Klaver, Caroline C. W., Hoyng, Carel B., Wynne, Niamh, Duignan, Emma S., Kenna, Paul F., Cremers, Frans P. M., Farrar, G. Jane, Roosing, Susanne

“…Inherited retinal diseases (IRDs) are a major cause of visual impairment. These clinically heterogeneous disorders are caused by pathogenic variants in more…”
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Mutations in the Mevalonate Kinase ( MVK ) Gene Cause Nonsyndromic Retinitis Pigmentosa by Siemiatkowska, Anna M., PhD, van den Born, L. Ingeborgh, MD, PhD, van Hagen, P. Martin, MD, PhD, Stoffels, Monique, MSc, Neveling, Kornelia, PhD, Henkes, Arjen, BSc, Kipping-Geertsema, Mieke, BSc, Hoefsloot, Lies H., PhD, Hoyng, Carel B., MD, PhD, Simon, Anna, MD, PhD, den Hollander, Anneke I., PhD, Cremers, Frans P.M., PhD, Collin, Rob W.J., PhD

“…Objective Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous disorder characterized by night blindness and peripheral vision loss, and in…”
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Genetic Etiology and Clinical Consequences of Complete and Incomplete Achromatopsia by Thiadens, Alberta A.H.J., MD, Slingerland, Niki W.R., MD, Roosing, Susanne, Ing, van Schooneveld, Mary J., MD, PhD, van Lith-Verhoeven, Janneke J.C., MD, PhD, van Moll-Ramirez, Norka, MD, van den Born, L. Ingeborgh, MD, PhD, Hoyng, Carel B., MD, PhD, Cremers, Frans P.M., PhD, Klaver, Caroline C.W., MD, PhD

“…Objective To investigate the genetic causes of complete and incomplete achromatopsia (ACHM) and assess the association between disease-causing mutations,…”
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ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease by Sangermano, Riccardo, Khan, Mubeen, Cornelis, Stéphanie S, Richelle, Valerie, Albert, Silvia, Garanto, Alejandro, Elmelik, Duaa, Qamar, Raheel, Lugtenberg, Dorien, van den Born, L Ingeborgh, Collin, Rob W J, Cremers, Frans P M

“…Stargardt disease is caused by variants in the gene, a significant part of which are noncanonical splice site (NCSS) variants. In case a gene of interest is…”
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Intraocular cytokine profile and autoimmune reactions in retinitis pigmentosa, age‐related macular degeneration, glaucoma and cataract by ten Berge, Josianne C., Fazil, Zainab, van den Born, Ingeborgh, Wolfs, Roger C. W., Schreurs, Marco W. J., Dik, Wim A., Rothova, Aniki

“…Purpose To analyse intraocular cytokine levels and prevalence of intraocular antiretinal antibodies (ARAs) in patients with retinitis pigmentosa (RP),…”
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Expression of wild-type Rp1 protein in Rp1 knock-in mice rescues the retinal degeneration phenotype by Liu, Qin, Collin, Rob W J, Cremers, Frans P M, den Hollander, Anneke I, van den Born, L Ingeborgh, Pierce, Eric A

“…Mutations in the retinitis pigmentosa 1 (RP1) gene are a common cause of autosomal dominant retinitis pigmentosa (adRP), and have also been found to cause…”
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A Homozygous Frameshift Mutation in LRAT Causes Retinitis Punctata Albescens by Littink, Karin W., MD, PhD, van Genderen, Maria M., MD, PhD, van Schooneveld, Mary J., MD, PhD, Visser, Linda, MD, Riemslag, Frans C.C., PhD, Keunen, Jan E.E., MD, PhD, Bakker, Bjorn, BSc, Zonneveld, Marijke N., BSc, den Hollander, Anneke I., PhD, Cremers, Frans P.M., PhD, van den Born, L. Ingeborgh, MD, PhD

“…Purpose To determine the genetic defect and to describe the clinical characteristics in patients with retinitis punctata albescens (RPA) and fundus…”
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X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 Patients by Hahn, Leo C, van Schooneveld, Mary J, Wesseling, Nieneke L, Florijn, Ralph J, Ten Brink, Jacoline B, 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, Ossewaarde-van Norel, Jeannette, van den Born, L Ingeborgh, Hoyng, Carel B, van Genderen, Maria M, Sieving, Paul A, Leroy, Bart P, Bergen, Arthur A, Boon, Camiel J F

“…To describe the natural course, phenotype, and genotype of patients with X-linked retinoschisis (XLRS). Retrospective cohort study. Three hundred forty…”
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Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt Disease by Sangermano, Riccardo, MSc, Bax, Nathalie M., MD, Bauwens, Miriam, MSc, van den Born, L. Ingeborgh, MD, PhD, De Baere, Elfride, MD, PhD, Garanto, Alejandro, PhD, Collin, Rob W.J., PhD, Goercharn-Ramlal, Angelique S.A., PhD, den Engelsman-van Dijk, Anke H.A., BSc, Rohrschneider, Klaus, MD, PhD, Hoyng, Carel B., MD, PhD, Cremers, Frans P.M., PhD, Albert, Silvia, PhD

“…Purpose To elucidate the functional effect of the ABCA4 variant c.5461-10T→C, one of the most frequent variants associated with Stargardt disease (STGD1)…”
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BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa by Fadaie, Zeinab, Whelan, Laura, Dockery, Adrian, Li, Catherina H Z, van den 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

“…Inherited retinal diseases (IRDs) can be caused by variants in >270 genes. The Bardet-Biedl syndrome 1 ( ) gene is one of these genes and may be associated…”
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Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles by Runhart, Esmee H, Valkenburg, Dyon, Cornelis, Stéphanie 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

“…To investigate the role of two deep-intronic ABCA4 variants, that showed a mild splice defect in vitro and can occur on the same allele as the low penetrant…”
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PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease by Peeters, Manon H. C. A, Khan, Mubeen, Rooijakkers, Anoek A. M. B, Mulders, Timo, Haer‐Wigman, Lonneke, Boon, Camiel J. F., Klaver, Caroline C. W., Born, L. Ingeborgh, Hoyng, Carel B., Cremers, Frans P. M., Hollander, Anneke I., Dhaenens, Claire‐Marie, Collin, Rob W. J.

“…Mutations in PRPH2, encoding peripherin‐2, are associated with the development of a wide variety of inherited retinal diseases (IRDs). To determine the…”
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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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