Expression of Wild-Type Rp1 Protein in Rp1 Knock-in Mice Rescues the Retinal Degeneration Phenotype

Por Liu, Qin, Collin, Rob W. J., Cremers, Frans P. M., den Hollander, Anneke I., van den Born, L. Ingeborgh, Pierce, Eric A.
Publicado em 2012

Antisense Oligonucleotide-Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655A>G Mutation in CEP290

Por 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
Publicado no Int J Mol Sci (2018)

Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290

Por Yzer, Suzanne, den Hollander, Anneke I., Lopez, Irma, Pott, Jan-Willem R., de Faber, Jan Tjeerd H.N., Cremers, Frans P.M., Koenekoop, Robert K., van den Born, L. Ingeborgh
Publicado em 2012

Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome

Por Littink, Karin W., Stappers, Patricia T. Y., Riemslag, Frans C. C., Talsma, Herman E., van Genderen, Maria M., Cremers, Frans P. M., Collin, Rob W. J., van den Born, L. Ingeborgh
Publicado no Genes (Basel) (2018)

A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290

Por Roosing, Susanne, Cremers, Frans P. M., Riemslag, Frans C. C., Zonneveld-Vrieling, Marijke N., Talsma, Herman E., Klessens-Godfroy, Francoise J. M., den Hollander, Anneke I., van den Born, L. Ingeborgh
Publicado no Genes (Basel) (2017)

ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease

Por 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.
Publicado no Genome Res (2018)

Correction: Littink, K. W.; et al. Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome. Genes 2018, 9, 68

Por Littink, Karin W., Stappers, Patricia T.Y., Riemslag, Frans C.C., Talsma, Herman E., van Genderen, Maria M., Cremers, Frans P.M., Collin, Rob W.J., van den Born, L. Ingeborgh
Publicado no Genes (Basel) (2018)

Clinical course of cone dystrophy caused by mutations in the RPGR gene

Por Thiadens, Alberta A. H. J., Soerjoesing, Gyan G., Florijn, Ralph J., Tjiam, A. G., den Hollander, Anneke I., van den Born, L. Ingeborgh, Riemslag, Frans C., Bergen, Arthur A. B., Klaver, Caroline C. W.
Publicado em 2011

Identification of a 2 Mb Human Ortholog of Drosophila eyes shut/spacemaker that Is Mutated in Patients with Retinitis Pigmentosa

Por 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.
Publicado em 2008

The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice

Por van Huet, Ramon A. C., Pierrache, Laurence H.M., Meester-Smoor, Magda A., Klaver, Caroline C.W., van den Born, L. Ingeborgh, Hoyng, Carel B., de Wijs, Ilse J., Collin, Rob W. J., Hoefsloot, Lies H., Klevering, B. Jeroen
Publicado no Mol Vis (2015)

Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis

Por 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.
Publicado em 2006

Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy

Por Roosing, Susanne, Lamers, Ideke J.C., de Vrieze, Erik, van den Born, L. Ingeborgh, Lambertus, Stanley, Arts, Heleen H., 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.
Publicado em 2014

Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis

Por Siemiatkowska, Anna M., van den Born, L. Ingeborgh, van Genderen, Maria M., Bertelsen, Mette, Zobor, Ditta, Rohrschneider, Klaus, van Huet, Ramon A.C., Nurohmah, Siska, Klevering, B. Jeroen, Kohl, Susanne, Faradz, Sultana M.H., Rosenberg, Thomas, den Hollander, Anneke I., Collin, Rob W.J., Cremers, Frans P.M.
Publicado em 2014

Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa

Por Özgül, Rıza Köksal, Siemiatkowska, Anna M., Yücel, Didem, Myers, Connie A., Collin, Rob W.J., Zonneveld, Marijke N., Beryozkin, Avigail, Banin, Eyal, Hoyng, Carel B., van den Born, L. Ingeborgh, Bose, Ron, Shen, Wei, Sharon, Dror, Cremers, Frans P.M., Klevering, B. Jeroen, den Hollander, Anneke I., Corbo, Joseph C.
Publicado em 2011

Mutations in RAB28, Encoding a Farnesylated Small GTPase, Are Associated with Autosomal-Recessive Cone-Rod Dystrophy

Por Roosing, Susanne, Rohrschneider, Klaus, Beryozkin, Avigail, Sharon, Dror, Weisschuh, Nicole, Staller, Jennifer, Kohl, Susanne, Zelinger, Lina, Peters, Theo A., Neveling, Kornelia, Strom, Tim M., van den Born, L. Ingeborgh, Hoyng, Carel B., Klaver, Caroline C.W., Roepman, Ronald, Wissinger, Bernd, Banin, Eyal, Cremers, Frans P.M., den Hollander, Anneke I.
Publicado em 2013

Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes

Por Astuti, Galuh D. N., van den Born, L. Ingeborgh, Khan, M. Imran, Hamel, Christian P., Bocquet, Béatrice, Manes, Gaël, Quinodoz, Mathieu, Ali, Manir, Toomes, Carmel, McKibbin, Martin, El-Asrag, Mohammed E., Haer-Wigman, Lonneke, Inglehearn, Chris F., Black, Graeme C. M., Hoyng, Carel B., Cremers, Frans P. M., Roosing, Susanne
Publicado no Genes (Basel) (2018)

Homozygosity Mapping in Patients with Cone–Rod Dystrophy: Novel Mutations and Clinical Characterizations

Por Littink, Karin W., Koenekoop, Robert K., van den Born, L. Ingeborgh, Collin, Rob W. J., Moruz, Luminita, Veltman, Joris A., Roosing, Susanne, Zonneveld, Marijke N., Omar, Amer, Darvish, Mahshad, Lopez, Irma, Kroes, Hester Y., van Genderen, Maria M., Hoyng, Carel B., Rohrschneider, Klaus, van Schooneveld, Mary J., Cremers, Frans P. M., den Hollander, Anneke I.
Publicado em 2010

Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acylt...

Por Scholl, Hendrik P. N., Moore, Anthony T., Koenekoop, Robert K., Wen, Yuquan, Fishman, Gerald A., van den Born, L. Ingeborgh, Bittner, Ava, Bowles, Kristen, Fletcher, Emily C., Collison, Frederick T., Dagnelie, Gislin, Degli Eposti, Simona, Michaelides, Michel, Saperstein, David A., Schuchard, Ronald A., Barnes, Claire, Zein, Wadih, Zobor, Ditta, Birch, David G., Mendola, Janine D., Zrenner, Eberhart
Publicado no PLoS One (2015)

Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa

Por Nguyen, Thanh-Minh T, Hull, Sarah, Roepman, Ronald, van den Born, L Ingeborgh, Oud, Machteld M, de Vrieze, Erik, Hetterschijt, Lisette, Letteboer, Stef J F, van Beersum, Sylvia E C, Blokland, Ellen A, Yntema, Helger G, Cremers, Frans P M, van der Zwaag, Paul A, Arno, Gavin, van Wijk, Erwin, Webster, Andrew R, Haer-Wigman, Lonneke
Publicado no J Med Genet (2017)

Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 (CRB1) Gene

Por 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.
Publicado em 2001