Ghent University Academic Bibliography

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Your filters: cql: keyword exact "retinitis pigmentosa" cql: author exact 001984208253 or (type exact bookEditor and editor exact 001984208253)

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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
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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).
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Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease

Stijn Van de Sompele (UGent) , Claire Smith, Marianthi Karali, Marta Corton, Kristof Van Schil (UGent) , Frank Peelman (UGent) , Timothy Cherry, Toon Rosseel (UGent) , Hannah Verdin (UGent) , Julien Derolez, et al.

(2019) GENETICS IN MEDICINE. 21(6). p.1319-1329
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Long-term follow-up of retinal degenerations associated with LRAT mutations and their comparability to phenotypes associated with RPE65 mutations

Mays Talib, Mary J. van Schooneveld, Roos J. G. van Duuren, Caroline Van Cauwenbergh (UGent) , Jacoline B. ten Brink, Elfride De Baere (UGent) , Ralph J. Florijn, Nicoline E. Schalij-Delfos, Bart Leroy (UGent) , Arthur A. Bergen, et al.

(2019) TRANSLATIONAL VISION SCIENCE & TECHNOLOGY. 8(4).
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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
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A nonsense mutation in FAM161A is a recurrent founder allele in Dutch and Belgian individuals with autosomal recessive retinitis pigmentosa

Kristof Van Schil (UGent) , B Jeroen Klevering, Bart Leroy (UGent) , Jan Willem R Pott, Dikla Bandah-Rozenfeld, Marijke N Zonneveld-Vrieling, Dror Sharon, Anneke I den Hollander, Frans PM Cremers, Elfride De Baere (UGent) , et al.

(2015) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 56(12). p.7418-7426
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SF3B2, a novel candidate gene for autosomal dominant retinitis pigmentosa, encodes a component of the U2 small nuclear ribonucleoprotein

Caroline Van Cauwenbergh (UGent) , Kris Vleminckx (UGent) , Frauke Coppieters (UGent) , Marcus Karlstetter, Thomas Langmann, Gael Manes, Christian P Hamel, Bart Leroy (UGent) and Elfride De Baere (UGent)

(2015) Belgian Society of Human Genetics, 15th Annual meeting, Abstracts.
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SF3B2, a novel candidate gene for autosomal dominant retinitis pigmentosa, encodes a component of the U2 small nuclear ribonucleoprotein

Caroline Van Cauwenbergh (UGent) , Kris Vleminckx (UGent) , Frauke Coppieters (UGent) , Marcus Karlstetter, Thomas Langmann, Gael Manes, Christian P Hamel, Bart Leroy (UGent) and Elfride De Baere (UGent)

(2015) Pro Retina, 10th Research colloquium, Abstracts.
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SF3B2, a novel candidate gene for autosomal dominant retinitis pigmentosa, encodes a component of the U2 small nuclear ribonucleoprotein

Caroline Van Cauwenbergh (UGent) , Kris Vleminckx (UGent) , Frauke Coppieters (UGent) , Marcus Karlstetter, Thomas Langmann, Gael Manes, Christian P Hamel, Bart Leroy (UGent) and Elfride De Baere (UGent)

(2015) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 56(7).
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SF3B2, a novel candidate gene for autosomal dominant retinitis pigmentosa, encodes a component of the U2 small nuclear ribonucleoprotein

Caroline Van Cauwenbergh (UGent) , Marcus Karlstetter, Kris Vleminckx (UGent) , Gael Manes, Thomas Langmann, Christian Hamel, Bart Leroy (UGent) , Frauke Coppieters (UGent) and Elfride De Baere (UGent)

(2015) EUROPEAN JOURNAL OF HUMAN GENETICS. 23(suppl. 1). p.73-73
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Exome sequencing identifies a novel RP1 mutation in a Belgian family with autosomal dominant retinitis pigmentosa

Caroline Van Cauwenbergh (UGent) , Frauke Coppieters (UGent) , Sarah De Jaegere (UGent) , Julie De Zaeytijd (UGent) , Bart Leroy (UGent) and Elfride De Baere (UGent)

(2013) Belgian Society of Human Genetics, 13th Annual meeting, Abstracts.
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Discordance for retinitis pigmentosa in two monozygotic twin pairs

LIEVE BERGHMANS (UGent) , Regina Halfeld Furtado de Mendonça, Frauke Coppieters (UGent) , Otacílio de Oliveira Maia Júnior, Walter Yukihiko Takahashi, Willy Lissens, Elfride De Baere (UGent) and Bart Leroy (UGent)

(2011) RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES. 31(6). p.1164-1169
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Spectrum of mutations in USH2A in British patients with Usher syndrome type II

Bart Leroy (UGent) , José A Aragon-Martin, Michael D Weston, David AR Bessant, Catherine Willis, Andrew R Webster, Alan C Bird, William J Kimberling, Annette M Payne and Shomi S Bhattacharya

(2001) EXPERIMENTAL EYE RESEARCH. 72(5). p.503-509

Academic Bibliography

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

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease

Long-term follow-up of retinal degenerations associated with LRAT mutations and their comparability to phenotypes associated with RPE65 mutations

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

A nonsense mutation in FAM161A is a recurrent founder allele in Dutch and Belgian individuals with autosomal recessive retinitis pigmentosa

SF3B2, a novel candidate gene for autosomal dominant retinitis pigmentosa, encodes a component of the U2 small nuclear ribonucleoprotein

SF3B2, a novel candidate gene for autosomal dominant retinitis pigmentosa, encodes a component of the U2 small nuclear ribonucleoprotein

SF3B2, a novel candidate gene for autosomal dominant retinitis pigmentosa, encodes a component of the U2 small nuclear ribonucleoprotein

SF3B2, a novel candidate gene for autosomal dominant retinitis pigmentosa, encodes a component of the U2 small nuclear ribonucleoprotein

Exome sequencing identifies a novel RP1 mutation in a Belgian family with autosomal dominant retinitis pigmentosa

Discordance for retinitis pigmentosa in two monozygotic twin pairs

Spectrum of mutations in USH2A in British patients with Usher syndrome type II

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