Search filters

List of works by Eduardo Silva

A missense mutation in GUCY2D acts as a genetic modifier in RPE65-related Leber Congenital Amaurosis.

scientific article published in September 2004

A novel locus for Leber congenital amaurosis maps to chromosome 6q

scientific article

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia

scientific article published on 9 January 2013

AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation

scientific article

Abnormal Brain Activation in Neurofibromatosis Type 1: A Link between Visual Processing and the Default Mode Network ⬇️

scientific article published on June 18, 2012

Abnormal achromatic and chromatic contrast sensitivity in neurofibromatosis type 1.

scientific article

Atypical presentation of Leber's hereditary optic neuropathy associated to mtDNA 11778G>A point mutation--A case report

scientific article published on 24 January 2007

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

scientific article

Cryptic 7q36.2q36.3 deletion causes multiple congenital eye anomalies and craniofacial dysmorphism

scientific article published on 07 February 2013

Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome

scientific article published on 10 September 2007

Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein

scientific article

Gyrification, cortical and subcortical morphometry in neurofibromatosis type 1: an uneven profile of developmental abnormalities

scientific article published on 13 February 2013

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

scientific article

Molecular characterization of a familial translocation implicates disruption of HDAC9 and possible position effect on TGFbeta2 in the pathogenesis of Peters' anomaly

scientific article

Multivariate pattern analysis reveals subtle brain anomalies relevant to the cognitive phenotype in neurofibromatosis type 1.

scientific article

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy

scientific article

Neural correlates of visual integration in Williams syndrome: gamma oscillation patterns in a model of impaired coherence

scientific article published on 12 April 2013

Physiological evidence for impairment in autosomal dominant optic atrophy at the pre-ganglion level

scientific article

Quantitative phenotyping of chromatic dysfunction in best macular dystrophy.

scientific article published in July 2005

Risk of multiple sclerosis after optic neuritis in patients with normal baseline brain MRI.

scientific article

The ciliopathies and their relationship with ophthalmology.

scientific article published in May 2013

Paulina is supported by:

About Paulina

Help