Ghent University Academic Bibliography

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Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity

Nicole TM Saksens, Mark P Krebs, Frederieke E Schoenmaker-Koller, Wanda Hicks, Minzhong Yu, Lanying Shi, Lucy Rowe, Gayle B Collin, Jeremy R Charette, Stef J Letteboer, et al.

(2016) NATURE GENETICS. 48(2). p.144-151
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- Journal Article
- A1
- open access
Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy

Susanne Roosing, Ideke JC Lamers, Erik de Vrieze, L Ingeborgh van den Born, Stanley Lambertus, Heleen H Arts, Theo A Peters, Carel B Hoyng, Hannie Kremer, Lisette Hetterschijt, et al.

(2014) AMERICAN JOURNAL OF HUMAN GENETICS. 95(2). p.131-142
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Screening of a large cohort of Leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations

Donna S Mackay, Arundhati Dev Borman, Ruifang Sui, L Indeborgh van den Born, Eliot L Berson, Louise A Ocaka, Alice E Davidson, John R Heckenlively, Kari Branham, Huanan Ren, et al.

(2013) HUMAN MUTATION. 34(11). p.1537-1546
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Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement

Alejandro Estrada-Cuzcano, Kornelis Neveling, Susanne Kohl, Eyal Banin, Ygal Rotenstreich, Dror Sharon, Tzipora C Falik-Zaccai, Stephanie Hipp, Ronald Roepman, Bernd Wissinger, et al.

(2012) AMERICAN JOURNAL OF HUMAN GENETICS. 90(1). p.102-109
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Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis

Suzanne Yzer, Bart Leroy (UGent) , Elfride De Baere (UGent) , Thomy J de Ravel, Marijke N Zonneveld, Krysta Voesenek, Ulrich Kellner, Jose P Martinez Ciriano, Jan-Tjeerd HN de Faber, Klaus Rohrschneider, et al.

(2006) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 47(3). p.1167-1176

Academic Bibliography

Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity

Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy

Screening of a large cohort of Leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations

Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement

Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis

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