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A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa. [electronic resource] by
- Van Schil, Kristof
- Klevering, B Jeroen
- Leroy, Bart P
- Pott, Jan Willem R
- Bandah-Rozenfeld, Dikla
- Zonneveld-Vrieling, Marijke N
- Sharon, Dror
- den Hollander, Anneke I
- Cremers, Frans P M
- De Baere, Elfride
- Collin, Rob W J
- van den Born, L Ingeborgh
Producer: 20160219
In:
Investigative ophthalmology & visual science vol. 56
Availability: No items available.
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13.
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International Consensus Statement on the Clinical and Therapeutic Management of Leber Hereditary Optic Neuropathy. [electronic resource] by
- Carelli, Valerio
- Carbonelli, Michele
- de Coo, Irenaeus F
- Kawasaki, Aki
- Klopstock, Thomas
- Lagrèze, Wolf A
- La Morgia, Chiara
- Newman, Nancy J
- Orssaud, Christophe
- Pott, Jan Willem R
- Sadun, Alfredo A
- van Everdingen, Judith
- Vignal-Clermont, Catherine
- Votruba, Marcela
- Yu-Wai-Man, Patrick
- Barboni, Piero
Producer: 20171213
In:
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society vol. 37
Availability: No items available.
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14.
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Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles. [electronic resource] 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
Producer: 20200127
In:
Investigative ophthalmology & visual science vol. 60
Availability: No items available.
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15.
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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
Availability: No items available.
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16.
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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
Availability: No items available.
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17.
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De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy. [electronic resource] by
- Buena-Atienza, Elena
- Rüther, Klaus
- Baumann, Britta
- Bergholz, Richard
- Birch, David
- De Baere, Elfride
- Dollfus, Helene
- Greally, Marie T
- Gustavsson, Peter
- Hamel, Christian P
- Heckenlively, John R
- Leroy, Bart P
- Plomp, Astrid S
- Pott, Jan Willem R
- Rose, Katherine
- Rosenberg, Thomas
- Stark, Zornitza
- Verheij, Joke B G M
- Weleber, Richard
- Zobor, Ditta
- Weisschuh, Nicole
- Kohl, Susanne
- Wissinger, Bernd
Producer: 20180424
In:
Scientific reports vol. 6
Availability: No items available.
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18.
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Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. [electronic resource] by
- Thiadens, Alberta A H J
- Phan, T My Lan
- Zekveld-Vroon, Renate C
- Leroy, Bart P
- van den Born, L Ingeborgh
- Hoyng, Carel B
- Klaver, Caroline C W
- Roosing, Susanne
- Pott, Jan-Willem R
- van Schooneveld, Mary J
- van Moll-Ramirez, Norka
- van Genderen, Maria M
- Boon, Camiel J F
- den Hollander, Anneke I
- Bergen, Arthur A B
- De Baere, Elfride
- Cremers, Frans P M
- Lotery, Andrew J
Producer: 20120517
In:
Ophthalmology vol. 119
Availability: No items available.
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19.
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The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants. [electronic resource] by
- Runhart, Esmee H
- Sangermano, Riccardo
- Cornelis, Stéphanie S
- Verheij, Joke B G M
- Plomp, Astrid S
- Boon, Camiel J F
- Lugtenberg, Dorien
- Roosing, Susanne
- Bax, Nathalie M
- Blokland, Ellen A W
- Jacobs-Camps, Marlie H M
- van der Velde-Visser, Saskia D
- Pott, Jan-Willem R
- Rohrschneider, Klaus
- Thiadens, Alberta A H J
- Klaver, Caroline C W
- van den Born, L Ingeborgh
- Hoyng, Carel B
- Cremers, Frans P M
Producer: 20190318
In:
Investigative ophthalmology & visual science vol. 59
Availability: No items available.
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20.
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Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides. [electronic resource] by
- Sangermano, Riccardo
- Garanto, Alejandro
- Khan, Mubeen
- Runhart, Esmee H
- Bauwens, Miriam
- Bax, Nathalie M
- van den Born, L Ingeborgh
- Khan, Muhammad Imran
- Cornelis, Stéphanie S
- Verheij, Joke B G M
- Pott, Jan-Willem R
- Thiadens, Alberta A H J
- Klaver, Caroline C W
- Puech, Bernard
- Meunier, Isabelle
- Naessens, Sarah
- Arno, Gavin
- Fakin, Ana
- Carss, Keren J
- Raymond, F Lucy
- Webster, Andrew R
- Dhaenens, Claire-Marie
- Stöhr, Heidi
- Grassmann, Felix
- Weber, Bernhard H F
- Hoyng, Carel B
- De Baere, Elfride
- Albert, Silvia
- Collin, Rob W J
- Cremers, Frans P M
Producer: 20200206
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 21
Availability: No items available.
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