Results
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81.
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Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy. [electronic resource] by
- Thiadens, Alberta A H J
- Roosing, Susanne
- Collin, Rob W J
- van Moll-Ramirez, Norka
- van Lith-Verhoeven, Janneke J C
- van Schooneveld, Mary J
- den Hollander, Anneke I
- van den Born, L Ingeborgh
- Hoyng, Carel B
- Cremers, Frans P M
- Klaver, Caroline C W
Producer: 20100408
In:
Ophthalmology vol. 117
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82.
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Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa. [electronic resource] by
- Azam, Maleeha
- Collin, Rob W J
- Malik, Ayesha
- Khan, Muhammad I
- Shah, Syed Tahir A
- Shah, Aftab A
- Hussain, Alamdar
- Sadeque, Ahmed
- Arimadyo, Kentar
- Ajmal, Muhammad
- Azam, Ayesha
- Qureshi, Nadeem
- Bokhari, Habib
- Strom, Tim M
- Cremers, Frans P M
- Qamar, Raheel
- den Hollander, Anneke I
Producer: 20111207
In:
Archives of ophthalmology (Chicago, Ill. : 1960) vol. 129
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83.
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Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features. [electronic resource] by
- van Huet, Ramon A C
- Siemiatkowska, Anna M
- Özgül, Riza K
- Yücel, Didem
- Hoyng, Carel B
- Banin, Eyal
- Blumenfeld, Anat
- Rotenstreich, Ygal
- Riemslag, Frans C C
- den Hollander, Anneke I
- Theelen, Thomas
- Collin, Rob W J
- van den Born, L Ingeborgh
- Klevering, B Jeroen
Producer: 20150624
In:
Acta ophthalmologica vol. 93
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84.
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A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder. [electronic resource] by
- Littink, Karin W
- van Genderen, Maria M
- Collin, Rob W J
- Roosing, Susanne
- de Brouwer, Arjan P M
- Riemslag, Frans C C
- Venselaar, Hanka
- Thiadens, Alberta A H J
- Hoyng, Carel B
- Rohrschneider, Klaus
- den Hollander, Anneke I
- Cremers, Frans P M
- van den Born, L Ingeborgh
Producer: 20090512
In:
Investigative ophthalmology & visual science vol. 50
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85.
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Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment. [electronic resource] by
- Collin, Rob W J
- Kalay, Ersan
- Oostrik, Jaap
- Caylan, Refik
- Wollnik, Bernd
- Arslan, Selçuk
- den Hollander, Anneke I
- Birinci, Yelda
- Lichtner, Peter
- Strom, Tim M
- Toraman, Bayram
- Hoefsloot, Lies H
- Cremers, Cor W R J
- Brunner, Han G
- Cremers, Frans P M
- Karaguzel, Ahmet
- Kremer, Hannie
Producer: 20070724
In:
Human mutation vol. 28
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86.
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IMPG2-associated retinitis pigmentosa displays relatively early macular involvement. [electronic resource] by
- van Huet, Ramon A C
- Collin, Rob W J
- Siemiatkowska, Anna M
- Klaver, Caroline C W
- Hoyng, Carel B
- Simonelli, Francesca
- Khan, Muhammad I
- Qamar, Raheel
- Banin, Eyal
- Cremers, Frans P M
- Theelen, Thomas
- den Hollander, Anneke I
- van den Born, L Ingeborgh
- Klevering, B Jeroen
Producer: 20140903
In:
Investigative ophthalmology & visual science vol. 55
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87.
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Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis. [electronic resource] by
- 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
Producer: 20140930
In:
Molecular vision vol. 20
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88.
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Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. [electronic resource] by
- Nikopoulos, Konstantinos
- Gilissen, Christian
- Hoischen, Alexander
- van Nouhuys, C Erik
- Boonstra, F Nienke
- Blokland, Ellen A W
- Arts, Peer
- Wieskamp, Nienke
- Strom, Tim M
- Ayuso, Carmen
- Tilanus, Mauk A D
- Bouwhuis, Sanne
- Mukhopadhyay, Arijit
- Scheffer, Hans
- Hoefsloot, Lies H
- Veltman, Joris A
- Cremers, Frans P M
- Collin, Rob W J
Producer: 20100319
In:
American journal of human genetics vol. 86
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89.
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Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR. [electronic resource] by
- Panagiotou, Evangelia S
- Sanjurjo Soriano, Carla
- Poulter, James A
- Lord, Emma C
- Dzulova, Denisa
- Kondo, Hiroyuki
- Hiyoshi, Atsushi
- Chung, Brian Hon-Yin
- Chu, Yoyo Wing-Yiu
- Lai, Connie H Y
- Tafoya, Mark E
- Karjosukarso, Dyah
- Collin, Rob W J
- Topping, Joanne
- Downey, Louise M
- Ali, Manir
- Inglehearn, Chris F
- Toomes, Carmel
Producer: 20170731
In:
American journal of human genetics vol. 100
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90.
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Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa. [electronic resource] by
- Ozgül, 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
Producer: 20111010
In:
American journal of human genetics vol. 89
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91.
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Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction. [electronic resource] by
- Roosing, Susanne
- van den Born, L Ingeborgh
- Hoyng, Carel B
- Thiadens, Alberta A H J
- de Baere, Elfride
- Collin, Rob W J
- Koenekoop, Robert K
- Leroy, Bart P
- van Moll-Ramirez, Norka
- Venselaar, Hanka
- Riemslag, Frans C C
- Cremers, Frans P M
- Klaver, Caroline C W
- den Hollander, Anneke I
Producer: 20130809
In:
Ophthalmology vol. 120
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92.
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A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype. [electronic resource] by
- Littink, Karin W
- Pott, Jan-Willem R
- Collin, Rob W J
- Kroes, Hester Y
- Verheij, Joke B G M
- Blokland, Ellen A W
- de Castro Miró, Marta
- Hoyng, Carel B
- Klaver, Caroline C W
- Koenekoop, Robert K
- Rohrschneider, Klaus
- Cremers, Frans P M
- van den Born, L Ingeborgh
- den Hollander, Anneke I
Producer: 20100802
In:
Investigative ophthalmology & visual science vol. 51
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93.
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Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP. [electronic resource] by
- Nikopoulos, Konstantinos
- Venselaar, Hanka
- Collin, Rob W J
- Riveiro-Alvarez, Rosa
- Boonstra, F Nienke
- Hooymans, Johanna M M
- Mukhopadhyay, Arijit
- Shears, Deborah
- van Bers, Marleen
- de Wijs, Ilse J
- van Essen, Anthonie J
- Sijmons, Rolf H
- Tilanus, Mauk A D
- van Nouhuys, C Erik
- Ayuso, Carmen
- Hoefsloot, Lies H
- Cremers, Frans P M
Producer: 20100927
In:
Human mutation vol. 31
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94.
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IQCB1 mutations in patients with leber congenital amaurosis. [electronic resource] by
- Estrada-Cuzcano, Alejandro
- Koenekoop, Robert K
- Coppieters, Frauke
- Kohl, Susanne
- Lopez, Irma
- Collin, Rob W J
- De Baere, Elfride B W
- Roeleveld, Debbie
- Marek, Jonah
- Bernd, Antje
- Rohrschneider, Klaus
- van den Born, L Ingeborgh
- Meire, Françoise
- Maumenee, Irene H
- Jacobson, Samuel G
- Hoyng, Carel B
- Zrenner, Eberhart
- Cremers, Frans P M
- den Hollander, Anneke I
Producer: 20110401
In:
Investigative ophthalmology & visual science vol. 52
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95.
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Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations. [electronic resource] by
- 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
Producer: 20101207
In:
Investigative ophthalmology & visual science vol. 51
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96.
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Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290. [electronic resource] by
- Valkenburg, Dyon
- van Cauwenbergh, Caroline
- Lorenz, Birgit
- van Genderen, Mies M
- Bertelsen, Mette
- Pott, Jan-Willem R
- Coppieters, Frauke
- de Zaeytijd, Julie
- Thiadens, Alberta A H J
- Klaver, Caroline C W
- Kroes, Hester Y
- van Schooneveld, Mary J
- Preising, Markus
- Hoyng, Carel B
- Leroy, Bart P
- van den Born, L Ingeborgh
- Collin, Rob W J
Producer: 20190419
In:
Investigative ophthalmology & visual science vol. 59
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97.
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Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations. [electronic resource] by
- Avila-Fernandez, Almudena
- Perez-Carro, Raquel
- Corton, Marta
- Lopez-Molina, Maria Isabel
- Campello, Laura
- Garanto, Alejandro
- Fernandez-Sanchez, Laura
- Duijkers, Lonneke
- Lopez-Martinez, Miguel Angel
- Riveiro-Alvarez, Rosa
- Da Silva, Luciana Rodrigues Jacy
- Sanchez-Alcudia, Rocío
- Martin-Garrido, Esther
- Reyes, Noelia
- Garcia-Garcia, Francisco
- Dopazo, Joaquin
- Garcia-Sandoval, Blanca
- Collin, Rob W J
- Cuenca, Nicolas
- Ayuso, Carmen
Producer: 20160428
In:
Human molecular genetics vol. 24
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98.
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Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan. [electronic resource] by
- Maria, Maleeha
- Ajmal, Muhammad
- Azam, Maleeha
- Waheed, Nadia Khalida
- Siddiqui, Sorath Noorani
- Mustafa, Bilal
- Ayub, Humaira
- Ali, Liaqat
- Ahmad, Shakeel
- Micheal, Shazia
- Hussain, Alamdar
- Shah, Syed Tahir Abbas
- Ali, Syeda Hafiza Benish
- Ahmed, Waqas
- Khan, Yar Muhammad
- den Hollander, Anneke I
- Haer-Wigman, Lonneke
- Collin, Rob W J
- Khan, Muhammad Imran
- Qamar, Raheel
- Cremers, Frans P M
Producer: 20160128
In:
PloS one vol. 10
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99.
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Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome. [electronic resource] 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
Producer: 20150824
In:
Human molecular genetics vol. 24
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100.
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Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. [electronic resource] by
- Bandah-Rozenfeld, Dikla
- Collin, Rob W J
- Banin, Eyal
- van den Born, L Ingeborgh
- 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
Producer: 20100901
In:
American journal of human genetics vol. 87
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