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List of works by Daniel F Schorderet

A corneal dystrophy associated with transforming growth factor beta-induced Gly623Asp mutation an amyloidogenic phenotype.

scientific article published on 18 November 2008

Acute hypoglycemia induces retinal cell death in mouse

scientific article (publication date: 2011)

Association Down syndrome-retinoblastoma: a new observation

scientific article published in September 2005

Bax-induced apoptosis in Leber's congenital amaurosis: a dual role in rod and cone degeneration

scientific article

Characterization of pip5k3 fleck corneal dystrophy-linked gene in zebrafish.

scientific article published on 30 April 2008

Conjunctivitis as a sign of PFAPA syndrome

scientific article published on 01 August 2007

Correction: Habibi I. et al. "Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB)" Genes, 2019, 10, 953

scientific article published on 03 May 2020

D-TAT transporter as an ocular peptide delivery system

scientific article published in December 2005

Epidermal growth factor is a neuronal differentiation factor for retinal stem cells in vitro.

scientific article

Genetic spectrum of retinal dystrophies in Tunisia

scientific article published on 08 July 2020

Guidelines for the use and interpretation of assays for monitoring autophagy

scientific article

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

scientific article

Higher retinal vessel oxygen saturation: investigating its relationship with macular oedema in retinitis pigmentosa patients

scientific article published on 06 March 2018

Incomplete Recovery of Zebrafish Retina Following Cryoinjury

scientific article published on 18 April 2022

MAP kinase pathways in UV-induced apoptosis of retinal pigment epithelium ARPE19 cells

scientific article published on March 2008

Mechanisms of apoptosis in retinitis pigmentosa.

scientific article published on April 2009

Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies

scientific article published on 28 March 2019

Mutations in the DNA-binding domain of NR2E3 affect in vivo dimerization and interaction with CRX.

scientific article

Phenotypic Progression of Stargardt Disease in a Large Consanguineous Tunisian Family Harboring New ABCA4 Mutations.

scientific article

Prenatal diagnosis of lamellar ichthyosis by direct mutational analysis of the keratinocyte transglutaminase gene.

scientific article published on May 1997

Retinopathy in Danon disease

scientific article published in February 2007

Rhodopsin C110Y mutation causes a type 2 autosomal dominant retinitis pigmentosa

scientific article published on 01 September 1998

Triggering of Bcl-2-related pathway is associated with apoptosis of photoreceptors in Rpe65-/- mouse model of Leber's congenital amaurosis.

scientific article published on March 2008

Using OMIM (On-line Mendelian Inheritance in Man) as an expert system in medical genetics

scientific article published on 01 June 1991

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders

scientific article published on 28 March 2019

Zebrafish hmx1 promotes retinogenesis

scientific article published on 12 October 2012

[Chromosome 5q31 linked corneal dystrophies: outline for a new classification]

scientific article published on 01 March 2001

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