Ghent University Academic Bibliography

Show Sort by

Your filters: cql: author="Hoyng, Carel B*" or (type exact bookEditor and editor="Hoyng, Carel B*")

Add to list
- Journal Article
- A1
- open access
Outcome of cataract surgery in patients with retinitis pigmentosa

Xuan-Thanh-An Nguyen, Alberta A.H.J. Thiadens, Marta Fiocco, Weijen Tan, Martin McKibbin, Caroline C.W. Klaver, Magda A. Meester-Smoor, Caroline Van Cauwenbergh (UGent) , Ine Strubbe (UGent) , Andrea Vergaro, et al.

(2023) AMERICAN JOURNAL OF OPHTHALMOLOGY. 246. p.1-9
Add to list
- Journal Article
- A2
- open access
The natural history of leber congenital amaurosis and cone–rod dystrophy associated with variants in the GUCY2D gene

Leo C. Hahn, Michalis Georgiou, Hind Almushattat, Mary J. van Schooneveld, Emanuel R. de Carvalho, Nieneke L. Wesseling, Jacoline B. ten Brink, Ralph J. Florijn, Birgit I. Lissenberg-Witte, Ine Strubbe (UGent) , et al.

(2022) OPHTHALMOLOGY RETINA. 6(8). p.711-722
Add to list
- Journal Article
- A1
- open access
X-linked Retinoschisis : novel clinical observations and genetic spectrum in 340 patients

Leo C. Hahn, Mary J. van Schooneveld, Nieneke L. Wesseling, Ralph J. Florijn, Jacoline B. ten Brink, Birgit I. Lissenberg-Witte, Ine Strubbe (UGent) , Magda A. Meester-Smoor, Alberta A. Thiadens, Roselie M. Diederen, et al.

(2022) OPHTHALMOLOGY. 129(2). p.191-202
Add to list
- Conference Paper
- C3
- open access
Evaluation of visual outcome following cataract surgery in patients with retinitis pigmentosa

Xuan-Thanh-An Nguyen, Alberta A. H. J Thiadens, Marta Fiocco, Weijen Tan, Martin McKibbin, Caroline C. W Klaver, Magda A Meester-Smoor, Caroline Van Cauwenbergh (UGent) , Ine Strubbe (UGent) , Andrea Vergaro, et al.

(2022) ACTA OPHTHALMOLOGICA. In Acta Ophthalmologica 100(Supplement 268). p.21-21
Add to list
- Journal Article
- A1
- open access
Clinical characteristics and natural history of rho-associated retinitis pigmentosa : a long-term follow-up study

Xuan-Thanh-An Nguyen, Mays Talib, Caroline Van Cauwenbergh (UGent) , Mary J. van Schooneveld, Marta Fiocco, Jan Wijnholds, Jacoline B. ten Brink, Ralph J. Florijn, Nicoline E. Schalij-Delfos, Gislin Dagnelie, et al.

(2021) RETINA -THE JOURNAL OF RETINAL AND VITREOUS DISEASES. 41(1). p.213-223
Add to list
- Journal Article
- A1
- open access
The phenotypic spectrum of patients with PHARC syndrome due to variants in ABHD12 : an ophthalmic perspective

Xuan-Thanh-An Nguyen, Hind Almushattat, Ine Strubbe (UGent) , Michalis Georgiou, Catherina H. Z. Li, Mary J. van Schooneveld, Inge Joniau (UGent) , Elfride De Baere (UGent) , Ralph J. Florijn, Arthur A. Bergen, et al.

(2021) GENES. 12(9).
Add to list
- Journal Article
- A1
- open access
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

Mubeen Khan, Stephanie S. Cornelis, Marta Del Pozo-Valero, Laura Whelan, Esmee H. Runhart, Ketan Mishra, Femke Bults, Yahya AlSwaiti, Alaa AlTalbishi, Elfride De Baere (UGent) , et al.

(2020) GENETICS IN MEDICINE. 22(7). p.1235-1246
Add to list
- Miscellaneous
Resolving the dark matter of ABCA4 for 1,054 Stargardt disease probands through integrated genomics and transcriptomics

Mubeen Khan, Stéphanie S. Cornelis, Marta del Pozo-Valero, Laura Whelan, Esmee H. Runhart, Ketan Mishra, Femke Bults, Yahya AlSwaiti, Alaa AlTabishi, Elfride De Baere (UGent) , et al.

(2019) bioRxiv.
Add to list
- Journal Article
- A1
- open access
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

Riccardo Sangermano, Alejandro Garanto, Mubeen Khan, Esmee H Runhart, Miriam Bauwens (UGent) , Nathalie M Bax, L Ingeborgh van den Born, Muhammad Imran Khan, Stéphanie S Cornelis, Joke BGM Verheij, et al.

(2019) GENETICS IN MEDICINE. 21(8). p.1751-1760
Add to list
- Journal Article
- A1
- open access
Clinical characterization of 66 patients with congenital retinal disease due to the deep-intronic c.2991+1655A>G mutation in CEP290

Dyon Valkenburg, Caroline Van Cauwenbergh (UGent) , Birgit Lorenz, Mies M van Genderen, Mette Bertelsen, Jan-Willem R Pott, Frauke Coppieters (UGent) , Julie De Zaeytijd (UGent) , Alberta AHJ Thiadens, Caroline CW Klaver, et al.

(2018) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 59(11). p.4384-4391
Add to list
- Journal Article
- A1
- open access
The spectrum of structural and functional abnormalities in female carriers of pathogenic variants in the RPGR gene

Mays Talib, Mary J van Schooneveld, Caroline Van Cauwenbergh (UGent) , Jan Wijnholds, Jacoline B. ten Brink, Ralph J. Florijn, Nicoline E. Schalij-Delfos, Gislin Dagnelie, Maria M. van Genderen, Elfride De Baere (UGent) , et al.

(2018) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 59(10). p.4123-4133
Add to list
- Journal Article
- A1
Photoreceptor progenitor mRNA analysis reveals exon skipping resulting from the ABCA4 c.5461-10T/C mutation in Stargardt disease

Riccardo Sangermano, Nathalie M Bax, Miriam Bauwens (UGent) , L Ingeborgh Van den Born, Elfride De Baere (UGent) , Alejandro Garanto, Rob WJ Collin, Angelique SA Goercharn-Ramlal, Anke HA den Engelsman-van Dijk, Klaus Rohrschneider, et al.

(2016) OPHTHALMOLOGY. 123(6). p.1375-1385
Add to list
- Journal Article
- A1
Visual prognosis in USH2A-associated retinitis pigmentosa is worse for patients with Usher syndrome type IIa than for those with nonsyndromic retinitis pigmentosa

Laurence HM Pierrache, Bas P Hartel, Erwin van Wijk, Magda A Meester-Smoor, Frans PM Cremers, Elfride De Baere (UGent) , Julie De Zaeytijd (UGent) , Mary J van Schooneveld, Cor WRJ Cremers, Gislin Dagnelie, et al.

(2016) OPHTHALMOLOGY. 123(5). p.1151-1160
Add to list
- Journal Article
- A1
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
Add to list
- 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
Add to list
- Journal Article
- A1
Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction

Susanne Roosing, L Ingeborgh van den Bon, Carel B Hoyng, Alberta AHJ Thiadeus, Elfride De Baere (UGent) , Rob WJ Collin, Robert K Koenekoop, Bart Leroy (UGent) , Norka van Moll-Ramirez, Hanka Venselaar, et al.

(2013) OPHTHALMOLOGY. 120(6). p.1239-1246
Add to list
- Journal Article
- A1
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome

Alejandro Estrada-Cuzcano, Robert K Koenekoop, Audrey Senechal, Elfride De Baere (UGent) , Thomy de Ravel, Sandro Banfi, Ssusanne Kohl, Carmen Ayuso, Dror Sharon, Carel B Hoyng, et al.

(2012) ARCHIVES OF OPHTHALMOLOGY. 130(11). p.1425-1432
Add to list
- Journal Article
- A1
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia

Susanne Kohl, Frauke Coppieters (UGent) , Françoise Meire, Simone Schaich, Susanne Roosing, Christina Brennenstuhl, Sylvia Bolz, Maria M van Genderen, Frans CC Riemslag, the European Retinal Disease Consortium, et al.

(2012) AMERICAN JOURNAL OF HUMAN GENETICS. 91(3). p.527-532
Add to list
- Journal Article
- A1
Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response

Bernd Wissinger, Simone Schaich, Britta Baumann, Michael Bonin, Herbert Jägle, Christoph Friedburg, Balázs Varsányi, Carel B Hoyng, Hélène Dollfus, John R Heckenliyely, et al.

(2011) HUMAN MUTATION. 32(12). p.1398-1406
Add to list
- Journal Article
- A1
Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa

Riza Köksal Özgül, Anna M Siemiatkowska, Didem Yücel, Connie A Myers, Rob WJ Collin, Marijke N Zonneveld, Avigail Beryozkin, Eyal Banin, Carel B Hoyng, L Ingeborgh van den Born, et al.

(2011) AMERICAN JOURNAL OF HUMAN GENETICS. 89(2). p.253-264

Academic Bibliography

Outcome of cataract surgery in patients with retinitis pigmentosa

The natural history of leber congenital amaurosis and cone–rod dystrophy associated with variants in the GUCY2D gene

X-linked Retinoschisis : novel clinical observations and genetic spectrum in 340 patients

Evaluation of visual outcome following cataract surgery in patients with retinitis pigmentosa

Clinical characteristics and natural history of rho-associated retinitis pigmentosa : a long-term follow-up study

The phenotypic spectrum of patients with PHARC syndrome due to variants in ABHD12 : an ophthalmic perspective

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

Resolving the dark matter of ABCA4 for 1,054 Stargardt disease probands through integrated genomics and transcriptomics

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

Clinical characterization of 66 patients with congenital retinal disease due to the deep-intronic c.2991+1655A>G mutation in CEP290

The spectrum of structural and functional abnormalities in female carriers of pathogenic variants in the RPGR gene

Photoreceptor progenitor mRNA analysis reveals exon skipping resulting from the ABCA4 c.5461-10T/C mutation in Stargardt disease

Visual prognosis in USH2A-associated retinitis pigmentosa is worse for patients with Usher syndrome type IIa than for those with nonsyndromic retinitis pigmentosa

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

Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction

BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome

A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia

Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response

Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa

Contents

Support

Contact