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FERM protein EPB41L5 is a novel member of the mammalian CRB-MPP5 polarity complex. [electronic resource] by
- Gosens, Ilse
- Sessa, Alessandro
- den Hollander, Anneke I
- Letteboer, Stef J F
- Belloni, Valentina
- Arends, Maarten L
- Le Bivic, André
- Cremers, Frans P M
- Broccoli, Vania
- Roepman, Ronald
Producer: 20080102
In:
Experimental cell research vol. 313
Availability: No items available.
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7.
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Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma. [electronic resource] by
- Fernández-Martínez, Lorena
- Letteboer, Stef
- Mardin, Christian Y
- Weisschuh, Nicole
- Gramer, Eugen
- Weber, Bernhard Hf
- Rautenstrauss, Bernd
- Ferreira, Paulo A
- Kruse, Friedrich E
- Reis, André
- Roepman, Ronald
- Pasutto, Francesca
Producer: 20110706
In:
European journal of human genetics : EJHG vol. 19
Availability: No items available.
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8.
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Cellular ciliary phenotyping indicates pathogenicity of novel variants in [electronic resource] by
- Oud, Machteld M
- Latour, Brooke L
- Bakey, Zeineb
- Letteboer, Stef J
- Lugtenberg, Dorien
- Wu, Ka Man
- Cornelissen, Elisabeth A M
- Yntema, Helger G
- Schmidts, Miriam
- Roepman, Ronald
- Bongers, Ernie M H F
Publication details: Cilia 2018
In:
Cilia vol. 7
Availability: No items available.
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9.
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The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase. [electronic resource] by
- Coene, Karlien L M
- Mans, Dorus A
- Boldt, Karsten
- Gloeckner, C Johannes
- van Reeuwijk, Jeroen
- Bolat, Emine
- Roosing, Susanne
- Letteboer, Stef J F
- Peters, Theo A
- Cremers, Frans P M
- Ueffing, Marius
- Roepman, Ronald
Producer: 20120117
In:
Human molecular genetics vol. 20
Availability: No items available.
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10.
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MPP5 recruits MPP4 to the CRB1 complex in photoreceptors. [electronic resource] by
- Kantardzhieva, Albena
- Gosens, Ilse
- Alexeeva, Svetlana
- Punte, Ingrid M
- Versteeg, Inge
- Krieger, Elmar
- Neefjes-Mol, Carla A
- den Hollander, Anneke I
- Letteboer, Stef J F
- Klooster, Jan
- Cremers, Frans P M
- Roepman, Ronald
- Wijnholds, Jan
Producer: 20050721
In:
Investigative ophthalmology & visual science vol. 46
Availability: No items available.
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11.
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In vivo phage display screening for tumor vascular targets in glioblastoma identifies a llama nanobody against dynactin-1-p150Glued. [electronic resource] by
- van Lith, Sanne A M
- Roodink, Ilse
- Verhoeff, Joost J C
- Mäkinen, Petri I
- Lappalainen, Jari P
- Ylä-Herttuala, Seppo
- Raats, Jos
- van Wijk, Erwin
- Roepman, Ronald
- Letteboer, Stef J
- Verrijp, Kiek
- Leenders, William P J
Producer: 20180213
In:
Oncotarget vol. 7
Availability: No items available.
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12.
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A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling. [electronic resource] by
- Frikstad, Kari-Anne M
- Molinari, Elisa
- Thoresen, Marianne
- Ramsbottom, Simon A
- Hughes, Frances
- Letteboer, Stef J F
- Gilani, Sania
- Schink, Kay O
- Stokke, Trond
- Geimer, Stefan
- Pedersen, Lotte B
- Giles, Rachel H
- Akhmanova, Anna
- Roepman, Ronald
- Sayer, John A
- Patzke, Sebastian
Producer: 20200904
In:
Cell reports vol. 28
Availability: No items available.
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13.
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Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein. [electronic resource] by
- van Wijk, Erwin
- Kersten, Ferry F J
- Kartono, Aileen
- Mans, Dorus A
- Brandwijk, Kim
- Letteboer, Stef J F
- Peters, Theo A
- Märker, Tina
- Yan, Xiumin
- Cremers, Cor W R J
- Cremers, Frans P M
- Wolfrum, Uwe
- Roepman, Ronald
- Kremer, Hannie
Producer: 20090130
In:
Human molecular genetics vol. 18
Availability: No items available.
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14.
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MPP1 links the Usher protein network and the Crumbs protein complex in the retina. [electronic resource] by
- Gosens, Ilse
- van Wijk, Erwin
- Kersten, Ferry F J
- Krieger, Elmar
- van der Zwaag, Bert
- Märker, Tina
- Letteboer, Stef J F
- Dusseljee, Simone
- Peters, Theo
- Spierenburg, Henk A
- Punte, Ingrid M
- Wolfrum, Uwe
- Cremers, Frans P M
- Kremer, Hannie
- Roepman, Ronald
Producer: 20071212
In:
Human molecular genetics vol. 16
Availability: No items available.
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15.
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Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy. [electronic resource] by
- 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
Producer: 20141015
In:
American journal of human genetics vol. 95
Availability: No items available.
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16.
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Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice. [electronic resource] by
- Boldt, Karsten
- Mans, Dorus A
- Won, Jungyeon
- van Reeuwijk, Jeroen
- Vogt, Andreas
- Kinkl, Norbert
- Letteboer, Stef J F
- Hicks, Wanda L
- Hurd, Ron E
- Naggert, Jürgen K
- Texier, Yves
- den Hollander, Anneke I
- Koenekoop, Robert K
- Bennett, Jean
- Cremers, Frans P M
- Gloeckner, Christian J
- Nishina, Patsy M
- Roepman, Ronald
- Ueffing, Marius
Producer: 20110817
In:
The Journal of clinical investigation vol. 121
Availability: No items available.
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17.
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Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina. [electronic resource] by
- Eblimit, Aiden
- Nguyen, Thanh-Minh T
- Chen, Yiyun
- Esteve-Rudd, Julian
- Zhong, Hua
- Letteboer, Stef
- Van Reeuwijk, Jeroen
- Simons, David L
- Ding, Qian
- Wu, Ka Man
- Li, Yumei
- Van Beersum, Sylvia
- Moayedi, Yalda
- Xu, Huidan
- Pickard, Patrick
- Wang, Keqing
- Gan, Lin
- Wu, Samuel M
- Williams, David S
- Mardon, Graeme
- Roepman, Ronald
- Chen, Rui
Producer: 20151123
In:
Human molecular genetics vol. 24
Availability: No items available.
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18.
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OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. [electronic resource] by
- Coene, Karlien L M
- Roepman, Ronald
- Doherty, Dan
- Afroze, Bushra
- Kroes, Hester Y
- Letteboer, Stef J F
- Ngu, Lock H
- Budny, Bartlomiej
- van Wijk, Erwin
- Gorden, Nicholas T
- Azhimi, Malika
- Thauvin-Robinet, Christel
- Veltman, Joris A
- Boink, Mireille
- Kleefstra, Tjitske
- Cremers, Frans P M
- van Bokhoven, Hans
- de Brouwer, Arjan P M
Producer: 20091027
In:
American journal of human genetics vol. 85
Availability: No items available.
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19.
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Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype. [electronic resource] by
- Lamers, Ideke J C
- Reijnders, Margot R F
- Venselaar, Hanka
- Kraus, Alison
- Jansen, Sandra
- de Vries, Bert B A
- Houge, Gunnar
- Gradek, Gyri Aasland
- Seo, Jieun
- Choi, Murim
- Chae, Jong-Hee
- van der Burgt, Ineke
- Pfundt, Rolph
- Letteboer, Stef J F
- van Beersum, Sylvia E C
- Dusseljee, Simone
- Brunner, Han G
- Doherty, Dan
- Kleefstra, Tjitske
- Roepman, Ronald
Producer: 20171128
In:
American journal of human genetics vol. 101
Availability: No items available.
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20.
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Missense mutations in the WD40 domain of [electronic resource] by
- 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
Producer: 20180430
In:
Journal of medical genetics vol. 54
Availability: No items available.
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