Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.

Investigative ophthalmology & visual science - 1 Sept 2007

Simonelli Francesca, Ziviello Carmela, Testa Francesco, Rossi Settimio, Fazzi Elisa, Bianchi Paolo Emilio, Fossarello Maurizio, Signorini Sabrina, Bertone Chiara, Galantuomo Silvana, Brancati Francesco, Valente Enza Maria, Ciccodicola Alfredo, Rinaldi Ernesto, Auricchio Alberto, Banfi Sandro

Abstract excerpt

PURPOSE: To identify the molecular basis of Leber's congenital amaurosis (LCA) in a cohort of Italian patients and to perform genotype-phenotype analysis. METHODS: DNA samples from 95 patients with LCA were analyzed by using a microarray chip containing disease-associated sequence variants in eight LCA genes. In addition, all patients in whom no mutations were identified by microarray were subjected to sequence...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Antigens, Neoplasm
Share to Blindness

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to cis-trans-Isomerases

Share to Eye Proteins

Share to Guanylate Cyclase

Share to Molecular Biology

Share to Retinal Degeneration

Share to Tomography, Optical Coherence

Source

Identifiers

PMID: 17724218
DOI: 10.1167/iovs.07-0068

Genes

RPE65
CRB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.PMID 17724218Read ↗

Novel gene variants in Polish patients with Leber congenital amaurosis (LCA).Semantic proximity Read ↗

Leber congenital amaurosis: a genetic paradigm.Semantic proximity Read ↗

Leber congenital amaurosis: first genotyped Hungarian patients and report of 2 novel mutations in the CRB1 and CEP290 genes.Semantic proximity Read ↗

Clinical phenotypes in carriers of Leber congenital amaurosis mutations.Semantic proximity Read ↗

Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.Semantic proximity Read ↗

Mutational analysis and clinical correlation in Leber congenital amaurosis.Semantic proximity Read ↗

Leber congenital amaurosis: A clinical and genetic study from a tertiary eye care center.Semantic proximity Read ↗

Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.Semantic proximity Read ↗

Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort.Semantic proximity Read ↗

Evaluation of genotype-phenotype associations in leber congenital amaurosis.Semantic proximity Read ↗

Leber's Congenital Amaurosis: Current Concepts of Genotype-Phenotype Correlations.Semantic proximity Read ↗

The genetic profile of Leber congenital amaurosis in an Australian cohort.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.