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

[Genotype-phenotype correlation in ten Tunisian families with non-syndromic retinitis pigmentosa].

Journal francais d'ophtalmologie - 1 Mar 2016

Chebil A, Falfoul Y, Habibi I, Munier F, Schorderet D, El Matri L

Abstract excerpt

PURPOSE: To evaluate the clinical phenotype of ten Tunisian families with non-syndromic retinitis pigmentosa (RP), to characterize genes and mutations causing these conditions, and to elaborate phenotype-genotype correlations. METHODS: Descriptive clinical genetic study of 114 individuals, of whom 27 are affected by non-syndromic RP. Ophthalmic examination and various visual tests were performed. DNA was analyzed...

Read the complete abstract on PubMed

Topics

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

Share to Cohort Studies
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family

Share to Genetic Association Studies

Share to Pedigree

Share to Retinitis Pigmentosa

Share to Tunisia

Share to Young Adult

Source

Identifiers

PMID: 26868535
DOI: 10.1016/j.jfo.2015.08.013

Genes

CRB1
RDH12
RPE65

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Genotype-phenotype correlation in ten Tunisian families with non-syndromic retinitis pigmentosa].PMID 26868535Read ↗

Genetic spectrum of retinal dystrophies in Tunisia.Semantic proximity Read ↗

Identifying mutations in Tunisian families with retinal dystrophy.Semantic proximity Read ↗

Next-generation sequencing--based genetic testing and phenotype correlation in retinitis pigmentosa patients from India.Semantic proximity Read ↗

The genotype-phenotype association of retinitis pigmentosa in a Chinese population: Analysis of three new cases and literature review.Semantic proximity Read ↗

Phenotype of three consanguineous Tunisian families with early-onset retinal degeneration caused by an R91W homozygous mutation in the RPE65 gene.Semantic proximity Read ↗

Clinical heterogeneity in retinitis pigmentosa caused by variants in RP1 and RLBP1 in five extended consanguineous pedigrees.Semantic proximity Read ↗

Ophthalmological and Genetic Findings Associated with CRB1 Dysfunction in Autosomal Recessive Retinitis PigmentosaSemantic proximity Read ↗

Diagnostic Challenges in Retinitis Pigmentosa: Genotypic Multiplicity and Phenotypic VariabilitySemantic proximity Read ↗

Clinical and genetic investigations of three Moroccan families with retinitis pigmentosa phenotypes.Semantic proximity Read ↗

Retinitis Pigmentosa: Genes and Disease MechanismsSemantic proximity Read ↗

[Genetics of retinitis pigmentosa: metabolic classification and phenotype/genotype correlations].Semantic proximity Read ↗

Genetic markers for retinitis pigmentosa.Semantic proximity Read ↗

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