Academic Bibliography

Search 200 years of publications by Ghent University researchers.

dr. Caroline Van Cauwenbergh

Faculty of Medicine and Health Sciences > Department of Head and Skin

Work address: C. Heymanslaan 10, ingang 12 - verdieping 13
9000 Gent
Email: Caroline.VanCauwenbergh@UGent.be
ORCID iD: 0000-0002-1948-9091

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- A2
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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
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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
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Comparative natural history of visual function from patients with biallelic variants in BBS1 and BBS10

Monika K. Grudzinska Pechhacker, Samuel G. Jacobson, V Drack, Arlene, Matteo Di Scipio, Ine Strubbe (UGent) , Wanda Pfeifer, Jacque L. Duncan, Helene Dollfus, Nathalie Goetz, Jean Muller, et al.

(2021) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 62(15).
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Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C > A p.(Pro188Thr) in the C1QTNF5 gene

Julie De Zaeytijd (UGent) , Frauke Coppieters (UGent) , Marieke De Bruyne (UGent) , Jasper Van Royen, Dimitri Roels (UGent) , Rani Six, Caroline Van Cauwenbergh (UGent) , Elfride De Baere (UGent) and Bart Leroy (UGent)

(2021) OPHTHALMIC GENETICS. 42(5). p.521-532
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Mild Leber hereditary optic neuropathy (LHON) in a Western European family due to the rare Asian m.14502T>C variant in the MT-ND6 gene

Justine Vandeputte, Mattias Van Heetvelde (UGent) , Caroline Van Cauwenbergh (UGent) , Sara Seneca, Elfride De Baere (UGent) , Bart Leroy (UGent) and Julie De Zaeytijd (UGent)

(2021) OPHTHALMIC GENETICS. 42(4). p.440-445
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CRB1-associated retinal dystrophies in a Belgian cohort : genetic characteristics and long-term clinical follow-up

Mays Talib, Caroline Van Cauwenbergh (UGent) , Julie De Zaeytijd (UGent) , David Van Wynsberghe, Elfride De Baere (UGent) , Camiel J F Boon and Bart Leroy (UGent)

(2021) BRITISH JOURNAL OF OPHTHALMOLOGY. 106(5). p.696-704
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A qualitative study among patients with an inherited retinal disease on the meaning of genomic unsolicited findings

Marlies Saelaert (UGent) , Heidi Mertes (UGent) , Tania Moerenhout, Caroline Van Cauwenbergh (UGent) , Bart Leroy (UGent) , Ignaas Devisch (UGent) and Elfride De Baere (UGent)

(2021) SCIENTIFIC REPORTS. 11(1).
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The need for widely available genomic testing in rare eye diseases : an ERN-EYE position statement

Graeme C. Black, [missing] ERN-EYE study group, Panagiotis Sergouniotis, Andrea Sodi, Bart Leroy (UGent) , Caroline Van Cauwenbergh (UGent) , Petra Liskova, Karen Grønskov, Artur Klett, Susanne Kohl, et al.

(2021) ORPHANET JOURNAL OF RARE DISEASES. 16(1).
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Isolated maculopathy and moderate rod-cone dystrophy represent the milder end of the RDH12-related retinal dystrophy spectrum

Julie De Zaeytijd (UGent) , Caroline Van Cauwenbergh (UGent) , Marieke De Bruyne (UGent) , Mattias Van Heetvelde (UGent) , Elfride De Baere (UGent) , Frauke Coppieters (UGent) and Bart Leroy (UGent)

(2021) RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES. 41(6). p.1346-1355
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Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant

Ine Strubbe (UGent) , Caroline Van Cauwenbergh (UGent) , Julie De Zaeytijd (UGent) , Sarah De Jaegere (UGent) , Marieke De Bruyne (UGent) , Toon Rosseel (UGent) , Stijn Van de Sompele (UGent) , Elfride De Baere (UGent) and Bart Leroy (UGent)

(2021) SCIENTIFIC REPORTS. 11.

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