Associated Papers
Genotype-Phenotype Spectrum of eyeGENE Patients With Familial Exudative Vitreoretinopathy: Novel Variants in Norrin/β-Catenin Signaling Pathway Genes.
Yaylacioglu Tuncay F et al.
Investigative Ophthalmology & Visual Science, 2025
39903177 (PubMed )
Supplement: iovs-66-2-9_s001.xlsx › Sayfa1
Incident Vertebral Fractures During Romosozumab Treatment in a Patient With a Pathogenic LRP5 Variant.
van Velsen EFS et al.
Jcem Case Reports, 2025
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
39462066 (PubMed )
Supplement: 41598_2024_77014_MOESM2_ESM.xlsx › solved_patients
Hedgehog Signal Defect Leading to Familial Exudative Vitreoretinopathy-Like Disease and Gastrointestinal Malformation.
Şahinoğlu Keşkek N et al.
Turkish Journal of Ophthalmology, 2022
A novel statistical method for interpreting the pathogenicity of rare variants.
Wang J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
32884132 (PubMed )
Supplement: NIHMS1630822-supplement-Supplementary_Tables.xlsx › S10_LRP5_variant
Familial Exudative Vitreoretinopathy-Related Disease-Causing Genes and Norrin/β-Catenin Signal Pathway: Structure, Function, and Mutation Spectrums.
Xiao H et al.
Journal of Ophthalmology, 2019
The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani Families.
Keser V et al.
Investigative Ophthalmology & Visual Science, 2017
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
Identification of two novel LRP5 mutations in families with familial exudative vitreoretinopathy.
Fei P et al.
Molecular Vision, 2014
Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.
Nikopoulos K et al.
Human Mutation, 2010
The genetics of low-density lipoprotein receptor-related protein 5 in bone: a story of extremes.
Balemans W et al.
Endocrinology, 2007
Clinical and molecular findings in osteoporosis-pseudoglioma syndrome.
Ai M et al.
American Journal of Human Genetics, 2005
Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes.
Qin M et al.
Human Mutation, 2005
Familial Exudative Vitreoretinopathy With and Without Pathogenic Variants of Norrin/β-Catenin Signaling Genes.
Kondo H et al.
Ophthalmology Science, 0
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