Associated Papers
Clinical Exome Sequencing: A Genetic Diagnostic Approach for Inherited Retinal Dystrophies.
Barberán-Martínez P et al.
The Journal of Molecular Diagnostics : Jmd, 2026
MEMBRANE-TYPE FRIZZLED-RELATED PROTEIN GENE MUTATION: NOVEL MANIFESTATION AND INSIGHTS ON PATHOPHYSIOLOGY.
Bezerra Fernandes JA et al.
Retinal Cases & Brief Reports, 2026
Membrane frizzled-related protein: a comprehensive analysis of genetic characteristics, phenotypic manifestations and impact on retinal microvasculature.
Simsek M et al.
Ophthalmic Genetics, 2025
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Esteve-Garcia A et al.
Eye (london, England), 2025
Genetic Spectrum and Genotype-Phenotype Correlations in a Chinese Cohort With Nanophthalmos With Secondary Angle-Closure Glaucoma.
Yu X et al.
Investigative Ophthalmology & Visual Science, 2025
The value of age of onset and family history as predictors of molecular diagnosis in a Swedish cohort of inherited retinal disease.
De Geer K et al.
Acta Ophthalmologica, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Posterior microphthalmos with retinal involvement related to MFRP gene: a report of 10 Brazilian patients.
Amaral RAS et al.
Ophthalmic Genetics, 2024
Pathogenic variants of MFRP and PRSS56 genes are major causes of nanophthalmos in Japanese patients.
Ota J et al.
Ophthalmic Genetics, 2023
MFRP variant results in nanophthalmos, retinitis pigmentosa, variability in foveal avascular zone.
Vanden Heuvel C et al.
Ophthalmic Genetics, 2023
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.
González-Del Pozo M et al.
Npj Genomic Medicine, 2022
Genotype-phenotype spectrum in isolated and syndromic nanophthalmos.
Lang E et al.
Acta Ophthalmologica, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification.
Martín-Sánchez M et al.
International Journal of Molecular Sciences, 2020
Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort.
Prasov L et al.
Scientific Reports, 2020
Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmos.
Bacci GM et al.
Ophthalmic Genetics, 2020
The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56.
Almoallem B et al.
Scientific Reports, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Detection of Clinically Relevant Genetic Variants in Chinese Patients With Nanophthalmos by Trio-Based Whole-Genome Sequencing Study.
Guo C et al.
Investigative Ophthalmology & Visual Science, 2019
Posterior microphthalmos, retinitis pigmentosa, and foveoschisis caused by a mutation in the MFRP gene: a familial study.
Morillo Sánchez MJ et al.
Ophthalmic Genetics, 2019
An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.
Wang P et al.
Translational Vision Science & Technology, 2019
Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing.
Matías-Pérez D et al.
Journal of Human Genetics, 2018
Gene Therapy Restores Mfrp and Corrects Axial Eye Length.
Velez G et al.
Scientific Reports, 2017
Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches.
Richardson R et al.
European Journal of Human Genetics : Ejhg, 2017
Efficacy of topical dorzolamide therapy for cystoid macular edema in a patient with MFRP-related nanophthalmos-retinitis pigmentosa-foveoschisis-optic disk drusen syndrome.
Zacharias LC et al.
Retinal Cases & Brief Reports, 2015
Novel membrane frizzled-related protein gene mutation as cause of posterior microphthalmia resulting in high hyperopia with macular folds.
Wasmann RA et al.
Acta Ophthalmologica, 2014
Coexistence of KCNV2 associated cone dystrophy with supernormal rod electroretinogram and MFRP related oculopathy in a Turkish family.
Ritter M et al.
The British Journal of Ophthalmology, 2013
Novel compound heterozygous mutations in the MFRP gene in a Japanese patient with posterior microphthalmos.
Matsushita I et al.
Japanese Journal of Ophthalmology, 2012
Gene therapy for retinitis pigmentosa caused by MFRP mutations: human phenotype and preliminary proof of concept.
Dinculescu A et al.
Human Gene Therapy, 2012
Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa.
Kannabiran C et al.
Molecular Vision, 2012
Membrane frizzled-related protein gene-related ophthalmological syndrome: 30-month follow-up of a sporadic case and review of genotype-phenotype correlation in the literature.
Neri A et al.
Molecular Vision, 2012
A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy.
Mukhopadhyay R et al.
Molecular Vision, 2010
Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex.
Zenteno JC et al.
Molecular Vision, 2009
Evaluation of MFRP as a candidate gene for high hyperopia.
Wang P et al.
Molecular Vision, 2009
A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen.
Crespí J et al.
American Journal of Ophthalmology, 2008