Associated Papers
Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.
Martins PM et al.
Investigative Ophthalmology & Visual Science, 2026
41615371 (PubMed )
Supplement: iovs-67-1-62_s003.xlsx › Supplementary_table_2
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
39939324 (PubMed )
Supplement: 41525_2025_475_MOESM1_ESM.xlsx › Families
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF
Posterior microphthalmos with retinal involvement related to MFRP gene: a report of 10 Brazilian patients.
Amaral RAS et al.
Ophthalmic Genetics, 2024
Single cell RNA sequencing confirms retinal microglia activation associated with early onset retinal degeneration.
Kumari A et al.
Scientific Reports, 2022
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
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
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
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
Novel compound heterozygous mutations in the MFRP gene in a Japanese patient with posterior microphthalmos.
Matsushita I et al.
Japanese Journal of Ophthalmology, 2012
174delG mutation in mouse MFRP causes photoreceptor degeneration and RPE atrophy.
Fogerty J et al.
Investigative Ophthalmology & Visual Science, 2011
A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy.
Mukhopadhyay R et al.
Molecular Vision, 2010
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
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