Ghent University Academic Bibliography

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A novel duplication involving PRDM13 in a Turkish family supports its role in North Carolina macular dystrophy (NCMD/MCDR1)

Kent W. Small, Stijn Van de Sompele (UGent) , Karen Nuytemans, Andrea Vincent, Ozge Ozalp Yuregir, Emine Ciloglu, Cahfer Sariyildiz, Toon Rosseel (UGent) , Jessica Avetisjan, Nitin Udar, et al.

(2021) MOLECULAR VISION. 27. p.518-527
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Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa

Paola Benaglio, Patricia Fernandez San Jose, Almudena Avila-Fernandez, Giulia Ascari (UGent) , Shyana Harper, Gaël Manes, Carmen Ayuso, Christian Hamel, Eliot L Berson and Carlo Rivolta

(2014) MOLECULAR VISION. 20. p.843-851
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Familial cases of a submicroscopic Xp22.2 deletion : genotype-phenotype correlation in microphthalmia with linear skin defects syndrome

Sarah Vergult (UGent) , Bart Leroy (UGent) , Ilse Claerhout (UGent) and Björn Menten (UGent)

(2013) MOLECULAR VISION. 19. p.311-318
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Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type II

Alireza Haghighi, Hannah Verdin (UGent) , Hamidreza Haghighi-Kakhki, Niloofar Piri, Nasrollah Saleh Gohari and Elfride De Baere (UGent)

(2012) MOLECULAR VISION. 18(24). p.211-218
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TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy

Julie Désir, Frauke Coppieters (UGent) , Nicole van Regemorter, Elfride De Baere (UGent) , Marc Abramowicz and Monique Cordonnier

(2012) MOLECULAR VISION. 18(191). p.1849-1857
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Nonsyndromic bilateral and unilateral optic nerve aplasia: first familial occurrence and potential implication of CYP26A1 and CYP26C1 genes

Françoise Meire (UGent) , Isabelle Delpierre, Cecile Brachet, Françoise Roulez, Chrisitan Van Nechel, Fanny Depasse, Catherine Christophe, Björn Menten (UGent) and Elfride De Baere (UGent)

(2011) MOLECULAR VISION. 17(225-26). p.2072-2079
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A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy

Rajarshi Mukhopadhyay, Panagiotis I Sergouniotis, Donna S Mackay, Alexander C Day, Genevieve Wright, Sophie Devery, Bart Leroy (UGent) , Anthony G Robson, Graham E Holder, Zheng Li, et al.

(2010) MOLECULAR VISION. 16. p.540-548

Academic Bibliography

A novel duplication involving PRDM13 in a Turkish family supports its role in North Carolina macular dystrophy (NCMD/MCDR1)

Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa

Familial cases of a submicroscopic Xp22.2 deletion : genotype-phenotype correlation in microphthalmia with linear skin defects syndrome

Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type II

TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy

Nonsyndromic bilateral and unilateral optic nerve aplasia: first familial occurrence and potential implication of CYP26A1 and CYP26C1 genes

A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy

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