Sylvie Gerber
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Explore the profile of Sylvie Gerber including associated specialties, affiliations and a list of published articles.
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39
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1263
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Recent Articles
11.
Zerbib J, Blanco Garavito R, Gerber S, Oubraham H, Sikorav A, Audo I, et al.
Retin Cases Brief Rep
. 2017 May;
13(4):295-299.
PMID: 28541266
Purpose: To describe the phenotype and genotype of a 10-year-old boy affected with enhanced S-cone syndrome associated with neovascularization. Methods: Fundus autofluorescence, fluorescein angiography, indocyanine green angiography, spectral domain optical...
12.
Gerber S, Ding M, Gerard X, Zwicker K, Zanlonghi X, Rio M, et al.
J Med Genet
. 2016 Dec;
54(5):346-356.
PMID: 28031252
Background: Non-syndromic hereditary optic neuropathy (HON) has been ascribed to mutations in mitochondrial fusion/fission dynamics genes, nuclear and mitochondrial DNA-encoded respiratory enzyme genes or nuclear genes of poorly known mitochondrial...
13.
Gerber S, Alzayady K, Burglen L, Bremond-Gignac D, Marchesin V, Roche O, et al.
Am J Hum Genet
. 2016 Apr;
98(5):971-980.
PMID: 27108797
Gillespie syndrome (GS) is a rare variant form of aniridia characterized by non-progressive cerebellar ataxia, intellectual disability, and iris hypoplasia. Unlike the more common dominant and sporadic forms of aniridia,...
14.
Plaisancie J, Bremond-Gignac D, Demeer B, Gaston V, Verloes A, Fares-Taie L, et al.
Eur J Med Genet
. 2016 Feb;
59(4):215-8.
PMID: 26873617
The formation of a properly shaped eye is a complex developmental event that requires the coordination of many induction processes and differentiation pathways. Microphthalmia and anophthalmia (MA) represent the most...
15.
Angebault C, Guichet P, Talmat-Amar Y, Charif M, Gerber S, Fares-Taie L, et al.
Am J Hum Genet
. 2015 Nov;
97(5):754-60.
PMID: 26593267
Autosomal-recessive optic neuropathies are rare blinding conditions related to retinal ganglion cell (RGC) and optic-nerve degeneration, for which only mutations in TMEM126A and ACO2 are known. In four families with...
16.
Fares-Taie L, Gerber S, Tawara A, Ramirez-Miranda A, Douet J, Verdin H, et al.
Am J Hum Genet
. 2015 Mar;
96(4):631-9.
PMID: 25772937
Congenital microcoria (MCOR) is a rare autosomal-dominant disorder characterized by inability of the iris to dilate owing to absence of dilator pupillae muscle. So far, a dozen MCOR-affected families have...
17.
Metodiev M, Gerber S, Hubert L, Delahodde A, Chretien D, Gerard X, et al.
J Med Genet
. 2014 Oct;
51(12):834-8.
PMID: 25351951
Background: Inherited optic neuropathy has been ascribed to mutations in mitochondrial fusion/fission dynamics genes, nuclear and mitochondrial DNA-encoded respiratory enzyme genes or nuclear genes of poorly known mitochondrial function. However,...
18.
Hanein S, Garcia M, Fares-Taie L, Serre V, de Keyzer Y, Delaveau T, et al.
Biochim Biophys Acta
. 2013 Mar;
1830(6):3719-33.
PMID: 23500070
Background: Hereditary optic neuropathies (HONs) are a heterogeneous group of disorders that affect retinal ganglion cells (RGCs) and axons that form the optic nerve. Leber's Hereditary Optic Neuropathy and the...
19.
Fares-Taie L, Gerber S, Chassaing N, Clayton-Smith J, Hanein S, Silva E, et al.
Am J Hum Genet
. 2013 Jan;
92(2):265-70.
PMID: 23312594
Anophthalmia and microphthalmia (A/M) are early-eye-development anomalies resulting in absent or small ocular globes, respectively. A/M anomalies occur in syndromic or nonsyndromic forms. They are genetically heterogeneous, some mutations in...
20.
Klebe S, Depienne C, Gerber S, Challe G, Anheim M, Charles P, et al.
Brain
. 2012 Oct;
135(Pt 10):2980-93.
PMID: 23065789
Mutations in the spastic paraplegia 7 (SPG7) gene encoding paraplegin are responsible for autosomal recessive hereditary spasticity. We screened 135 unrelated index cases, selected in five different settings: SPG7-positive patients...