D.F. Schorderet

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Psychologie (8) Anthropologie biologique (1)

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Philosophie (1)

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Articles (43) Recensions (2)

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Recensions (1)

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gène (27) Retinal (Visual pigment) (25) Patients (22) mutation (21) Patients (21) Families (21) Mutation (21) protéine (20) Human beings (20) famille (18) Genes (18) Eye (18) Family (18) analyse (17) Phenotype (17) Mice (17) Analysis (17) maladie (16) maladie (16) Methods (15) Methods (15) Retinal degeneration (14) Retina (14) Expression (13) Cells (12) adulte (11) Example (11) Animals (11) adulte (11) ADN (10)

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Year (1) Prenatal diagnosis (1) Molecular biology (1) Population (1) Diagnóstico prenatal (1) Biología molecular (1) Population (1) Diagnostic prénatal (1) Année (1) Population (1) Biologie moléculaire (1) biologie moléculaire (1) population (1)

Documents écrit par D.F. Schorderet (43) | parle de D.F. Schorderet (1)

Phenotypic Progression of Stargardt Disease in a Large Consanguineous Tunisian Family Harboring New ABCA4 Mutations.
Y. Falfoul et al. (2018)
Identifying mutations in Tunisian families with retinal dystrophy.
I. Habibi et al. (22 nov. 2016)
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.
N. Bedoni et al. (15 oct. 2016)
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition).
D.J. Klionsky et al.
Tgfbi/Bigh3 silencing activates ERK in mouse retina.
N. Allaman-Pillet et al. (2015)
Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus.
J. Lechner et al. (2014)
A Dimerized HMX1 Inhibits EPHA6/epha4b in Mouse and Zebrafish Retinas.
F. Marcelli et al. (2014)
Autophagy defect is associated with low glucose-induced apoptosis in 661W photoreceptor cells.
D. Balmer et al. (2013)
ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm.
M. Yahyavi et al. (2013)
The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter.
J. Abplanalp et al. (2013)
Dental Phenotype in Jalili Syndrome Due to a c.1312 dupC Homozygous Mutation in the CNNM4 Gene.
H.U. Luder et al. (2013)
Analysis of the Cytoprotective Role of α-Crystallins in Cell Survival and Implication of the αA-Crystallin C-Terminal Extension Domain in Preventing Bax-Induced Apoptosis.
S. Hamann et al. (2013)
IROme, a New High-Throughput Molecular Tool for the Diagnosis of Inherited Retinal Dystrophies.
D.F. Schorderet et al. (2013)
Retinal pigment epithelium protein of 65 kDA gene-linked retinal degeneration is not modulated by chicken acidic leucine-rich epidermal growth factor-like domain containing brain protein/Neuroglycan C/ chondroitin sulfate proteoglycan 5.
S. Cottet et al. (2013)
Identification of HMX1 target genes: a predictive promoter model approach.
A. Boulling et al. (2013)
A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosa.
L. Tiab et al. (2013)
VAX1 mutation associated with microphthalmia, corpus callosum agenesis and orofacial clefting-the first description of a VAX1 phenotype in humans.
A.M. Slavotinek et al. (2012)
Double Concentric Autofluorescence Ring in NR2E3-p.G56R-linked Autosomal Dominant Retinitis Pigmentosa.
P. Escher et al. (2012)
RAX and anophthalmia in humans: Evidence of brain anomalies.
H. Abouzeid et al. (2012)
Altered expression of the transcription factor Mef2c during retinal degeneration in Rpe65-/- mice.
P. Escher et al. (2011)
Acute hypoglycemia induces retinal cell death in mouse.
M. Emery et al. (2011)
A novel PIKFYVE mutation in fleck corneal dystrophy.
A. Kotoulas et al. (2011)
Altered expression of β-galactosidase-1-like protein 3 (Glb1l3) in the retinal pigment epithelium (RPE)-specific 65-kDa protein knock-out mouse model of Leber's congenital amaurosis.
J. Le Carré et al. (2011)
A male with unilateral microphthalmia reveals a role for TMX3 in eye development.
R. Chao et al. (2010)
The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.
M. Michaelides et al. (2010)

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Forestier F., Schorderet D. F. — Diagnostics prénatals et biologie moléculaire
Gil Bellis (1998)