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Scientific Publications

You’ll find on this page scientific publications from ERN-EYE members from 2019.

As a reminder, publications should be PubMed accredited scientific journals and involve as major contributors Health Care Providers from at least two different Member States within ERN-EYE, and which include an explicit acknowledgement of ERN-EYE such as “This work is generated/supported within the European Reference Network for Rare Eye Diseases ERN-EYE”.

A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models

Professional(s) : Bart LEROY, Elfride DE BAERE

Center(s) : Ghent University Hospital, Ghent, Belgium

Working group(s) : Genetic Diagnostics (TWG6) , Retinal Rare Eye Diseases (WG1)

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

Professional(s) : Camiel BOON, Elfride DE BAERE, Bart LEROY, Lonneke HAER-WIGMAN, Carel HOYNG, Katarina Stingl, Susanne KOHL, Laura Kühlewein, Laura Mauring, Petra Liskova, Isabelle MEUNIER, Francesca Simonelli, Sandra Valeina, Ingeborgh VAN DEN BORN

Center(s) : Amsterdam University Medical Center / Leiden University Medical Center ; Ghent University Hospital, Ghent, Belgium ; Radboud university medical center, Nijmegen, Netherlands ; Centre for Ophthalmology, University Eye Hospital, Tübingen, Germany ; Tartu University Hospital, Estonia ; Center of Clinical Ophthalmic Genetics, Department of Ophthalmology, General University Hospital in Prague, Czech Republic ; Reference Center Rare Diseases 'Genetic Sensory Diseases', MAOLYA, Montpellier, France ; AOU Università degli Studi della Campania Luigi Vanvitelli, Napoli, Italy ; Children’s Clinical University Hospital, Riga, Latvia ; The Rotterdam Eye Hospital, Rotterdam, Netherlands

Working group(s) : Retinal Rare Eye Diseases (WG1)

Ophthalmologic presentation of carboplatin- and paclitaxel-induced toxicity

Professional(s) : Bart LEROY

Center(s) : Ghent University Hospital, Ghent, Belgium

Working group(s) : Retinal Rare Eye Diseases (WG1)

Positive and negative feedback regulates the transcription factor FOXL2 in response to cell stress: evidence for a regulatory imbalance induced by disease-causing mutations

Professional(s) : Elfride DE BAERE

Center(s) : Ghent University Hospital, Ghent, Belgium

Working group(s) : Genetic Diagnostics (TWG6)

Short-Term Outcomes of Pediatric Patients With Mild Autosomal Recessive RPE65-Associated Retinal Dystrophy Treated With Voretigene Neparvovec

Professional(s) : Bart LEROY, Elfride DE BAERE, Katarina Stingl, Krunoslav Stingl, Susanne KOHL

Center(s) : Ghent University Hospital, Ghent, Belgium ; Centre for Ophthalmology, University Eye Hospital, Tübingen, Germany

Working group(s) : Retinal Rare Eye Diseases (WG1)

Quality of life in children and adolescents with visual impairment: key pillars of support explored through a qualitative analysis among different healthcare professionals in the Flemish healthcare landscape

Professional(s) : Bart LEROY

Center(s) : Ghent University Hospital, Ghent, Belgium

Working group(s) : Low Vision Daily Life and Patients Groups (TWG5)

Generation and characterization of three human induced pluripotent stem cell lines (UGENTi005, UGENTi006 and UGENTi007) from patients with autosomal dominant adult-onset maculopathy due to RPE65 variant c.1555G>A, p.(E519K)

Professional(s) : Bart LEROY, Elfride DE BAERE

Center(s) : Ghent University Hospital, Ghent, Belgium

Working group(s) : Genetic Diagnostics (TWG6) , Retinal Rare Eye Diseases (WG1)

Vitreoretinal complications and surgical outcomes in patients with X-linked retinoschisis

Professional(s) : Bart LEROY, Alberta Thiadens, Ingeborgh VAN DEN BORN, Carel HOYNG, Camiel BOON

Center(s) : Ghent University Hospital, Ghent, Belgium ; Erasmus MC: University Medical Center Rotterdam, Netherlands ; The Rotterdam Eye Hospital, Rotterdam, Netherlands ; Radboud university medical center, Nijmegen, Netherlands ; Amsterdam University Medical Center / Leiden University Medical Center

Working group(s) : Retinal Rare Eye Diseases (WG1)

RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals

Professional(s) : Alberta Thiadens, Luc Van Os, Susanne KOHL, Bart LEROY, Elfride DE BAERE

Center(s) : Erasmus MC: University Medical Center Rotterdam, Netherlands ; University Hospitals Leuven, Belgium ; Centre for Ophthalmology, University Eye Hospital, Tübingen, Germany ; Ghent University Hospital, Ghent, Belgium

Working group(s) : Genetic Diagnostics (TWG6)

Eyes Shut Homolog (EYS): Connecting Molecule to Disease

Professional(s) : João Pedro Marques, Isabelle Audo, Christina Zeitz

Center(s) : Unidade Local de Saúde de Coimbra (ULS de Coimbra), Coimbra, Portugal ; RÉFÉRET National Hospital of Ophthalmology of Quinze-Vingts, Paris, France

Working group(s) : Retinal Rare Eye Diseases (WG1)

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