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

Identification of the RPGR Gene Pathogenic Variants in a Cohort of Polish Male Patients with Retinitis Pigmentosa Phenotype.

Genes - 17 Oct 2023

Nowomiejska Katarzyna, Baltaziak Katarzyna, Całka Paulina, Ciesielka Marzanna, Teresiński Grzegorz, Rejdak Robert

Abstract excerpt

The goal of the study was to explore the spectrum of pathogenic variants in the RPGR gene in a group of male Polish patients with a retinitis pigmentosa (RP) phenotype. A total of 45 male index patients, including twins, being members of 44 families, were screened for pathogenic variants in the RPGR gene via the direct sequencing of PCR-amplified genomic DNA and underwent a comprehensive ophthalmological...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Child
Share to Eye Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Pedigree

Share to Phenotype

Share to Poland

Share to Retinitis Pigmentosa

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 37895299
DOI: 10.3390/genes14101950
PMCID: PMC10606843

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of the RPGR Gene Pathogenic Variants in a Cohort of Polish Male Patients with Retinitis Pigmentosa Phenotype.PMID 37895299Read ↗

Genotype–Phenotype Analysis of RPGR Variations: Reporting of 62 Chinese Families and a Literature ReviewSemantic proximity Read ↗

Clinical sequencing of the retinitis pigmentosa gene RPGR in over 1,000 cases of vision loss.Semantic proximity Read ↗

Clinical and molecular findings in children with retinitis pigmentosa.Semantic proximity Read ↗

Gene mutations in retinitis pigmentosa and their clinical implications.Semantic proximity Read ↗

Detailed comparison of phenotype between male patients carrying variants in exons 1-14 and ORF15 of RPGR.Semantic proximity Read ↗

A molecular case report of autosomal dominant retinitis pigmentosa: RP1/RHO sequence variants in a Turkish family.Semantic proximity Read ↗

ORF15 exon of the RPGR gene in retinitis pigmentosa – technically difficult, diagnostically important.Semantic proximity Read ↗

Homozygous females for a X-linked RPGR-ORF15 mutation in an Iranian family with retinitis pigmentosa.Semantic proximity Read ↗

The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene.Semantic 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 ↗

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

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

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