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

Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations.

Genetics and molecular research : GMR - 27 Oct 2014

Pierrottet C O, Zuntini M, Digiuni M, Bazzanella I, Ferri P, Paderni R, Rossetti L M, Cecchin S, Orzalesi N, Bertelli M

Abstract excerpt

Mutations in more than 60 different genes have been associated with non-syndromic and syndromic retinitis pigmentosa (RP), a heterogeneous group of inherited retinal dystrophies. To increase the understanding of the molecular epidemiology of the disease in Italy, we analyzed 56 patients with syndromic and non-syndromic forms of RP attending the Retinitis Pigmentosa Center of San Paolo Hospital (Milan, Italy)....

Read the complete abstract on PubMed

Topics

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

Share to Extracellular Matrix Proteins
Share to Eye Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family Health

Share to Retinitis Pigmentosa

Share to Rhodopsin

Share to Sequence Homology, Amino Acid

Share to Syndrome

Source

Identifiers

PMID: 25366773
DOI: 10.4238/2014.October.27.23

Genes

EYS
RPGR
RHO

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations.PMID 25366773Read ↗

Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosaSemantic proximity Read ↗

Identification of novel X-linked gain-of-function RPGR-ORF15 mutation in Italian family with retinitis pigmentosa and pathologic myopia.Semantic proximity Read ↗

A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.Semantic proximity Read ↗

Update on the molecular genetics of retinitis pigmentosa.Semantic proximity Read ↗

Novel variants of RPGR in X-linked retinitis pigmentosa families and genotype-phenotype correlation.Semantic proximity Read ↗

Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.Semantic proximity Read ↗

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.Semantic proximity Read ↗

Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.Semantic proximity Read ↗

X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female CarriersSemantic proximity Read ↗

Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes.Semantic proximity Read ↗

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.Semantic proximity Read ↗

Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families.Semantic proximity Read ↗

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