5' UTR variant in the NDP gene leads to incorrect splicing and familial exudative vitreoretinopathy.

Distinct structural mechanisms of LGR4 modulation by Norrin and RSPOs in Wnt/β-catenin signaling.

Exon 2 mutation of NDP gene presenting as extensive peripheral retinal ischaemia: a manifestation of Norrie disease.

Norrie Disease: Cochlear Enhancement and Cerebellar Signal Abnormalities.

Rescue of cochlear vascular pathology prevents sensory hair cell loss in Norrie disease.

Abnormal cochlear enhancement in Norrie disease.

Familial Exudative Vitreoretinopathy With and Without Pathogenic Variants of Norrin/β-Catenin Signaling Genes.

The tale of capturing Norrin.

Investigating the Impact of Dimer Interface Mutations on Norrin's Secretion and Norrin/β-Catenin Pathway Activation.

Transabdominal Fetal Ultrasound Before Early-Term Planned Delivery for Norrie Disease.

Novel mutation in the NDP gene associated with Norrie disease in a Chinese pedigree.

Overlap between ophthalmology and psychiatry - A narrative review focused on congenital and inherited conditions.

Mechanisms Underlying Rare Inherited Pediatric Retinal Vascular Diseases: FEVR, Norrie Disease, Persistent Fetal Vascular Syndrome.

Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease.

Loss of Tbx3 in Mouse Eye Causes Retinal Angiogenesis Defects Reminiscent of Human Disease.

Avascular Peripheral Retina in Infants.

The role of PLVAP in endothelial cells.

First implication of MIP in bilateral microphthalmia with persistent fetal vasculature.

Xp11.3 microdeletion causing Norrie disease and X-linked Kabuki syndrome.

Ocular Manifestations in Patients with Sensorineural Hearing Loss.

Clinical Exome Sequencing Identifies NDP Gene Variants in Two Chinese Families with X-Linked Norrie Disease.

Dual phenotype: co-occurring Leber congenital amaurosis and familial exudative vitreoretinopathy: a case report.

Next-generation sequencing reveals a case of Norrie disease in a child with bilateral ocular malformation.

Long-Term Anatomic and Visual Outcomes of Planned Preterm Delivery and Treatment of Norrie Disease.

Whole-genome sequencing revealed different demographic histories among the Korean endemic hill pigeon (Columba rupestris), rock pigeon (Columba livia var. domestica) and oriental turtle dove (Streptopelia orientalis).

Ocular manifestations of Chinese patients with copy number variants in the NDP gene.

Spectrum of Mutations in NDP Resulting in Ocular Disease; a Systematic Review.

Endolymphatic Hydrop Phenotype in Familial Norrie Disease Caused by Large Fragment Deletion of NDP.

Planned Preterm Delivery and Treatment of Severe Infantile FEVR With Osteoporosis-Pseudoglioma Syndrome.

NDP-related retinopathies: clinical phenotype of female carriers.

A Survey of Multigenic Protein-Altering Variant Frequency in Familial Exudative Vitreo-Retinopathy (FEVR) Patients by Targeted Sequencing of Seven FEVR-Linked Genes.

Hearing Function, Degeneration, and Disease: Spotlight on the Stria Vascularis.

Structure and function of the retina of low-density lipoprotein receptor-related protein 5 (Lrp5)-deficient rats.

The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention.

A novel frameshift c.22_25dupGCAT mutation of the NDP gene in a Chinese infant with Norrie disease: A case report.

Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease.

Norrie disease protein is essential for cochlear hair cell maturation.

Case report: A case of Norrie disease due to deletion of the entire coding region of NDP gene.

Retinoschisis and Norrie disease: a missing link.

Identification of a variant in NDP associated with X-linked retinal dysplasia in the English cocker spaniel dog.

Norrie disease with a spontaneously shrinking choroid plexus abnormality: a case report.

Novel Norrie disease gene mutations in Chinese patients with familial exudative vitreoretinopathy.

Impact of sight and hearing loss in patients with Norrie disease: advantages of Dual Sensory clinics in patient care.

Ethacrynic acid, a loop diuretic, suppresses epithelial-mesenchymal transition of A549 lung cancer cells via blocking of NDP-induced WNT signaling.

Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report.

Identification of Gene Mutations in Atypical Retinopathy of Prematurity Cases.

The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies.

A novel c.287G>T NDP missense mutation in a Chinese family with Norrie disease.

Ocular manifestations of Norrie disease.

Novel Pathogenic Variant in the Cys110 Residue: A Genotype-Phenotype Report of a Patient with Norrie Disease.

Novel mutation in CTNNB1 causes familial exudative vitreoretinopathy (FEVR) and microcephaly: case report and review of the literature.

[Norrie disease caused by a c.361C>T missense variant of the NDP gene in a pedigree].

Comprehensive analysis of syndromic hearing loss patients in Japan.

Thinking outside the box: cataplexy without narcolepsy.

[Genetic analysis and prenatal diagnosis for a pedigree affected with X-linked Norrie disease].

Norrie disease gene polymorphism in Indonesian infants with retinopathy of prematurity.

Hypoxia tolerance in the Norrin-deficient retina and the chronically hypoxic brain studied at single-cell resolution.

Vascular regeneration in adult mouse cochlea stimulated by VEGF-A165 and driven by NG2-derived cells ex vivo.

Molecularly defined cortical astroglia subpopulation modulates neurons via secretion of Norrin.

Germline Mutations in CTNNB1 Associated With Syndromic FEVR or Norrie Disease.

Wnt Signaling in vascular eye diseases.

Prenatal diagnosis of familial exudative vitreoretinopathy and Norrie disease.

Endothelial Cell-Specific Inactivation of TSPAN12 (Tetraspanin 12) Reveals Pathological Consequences of Barrier Defects in an Otherwise Intact Vasculature.

Prenatal diagnosis of Norrie disease based on ultrasound findings.

Introgression of regulatory alleles and a missense coding mutation drive plumage pattern diversity in the rock pigeon.

Dendrobium nobile Lindley and its bibenzyl component moscatilin are able to protect retinal cells from ischemia/hypoxia by dowregulating placental growth factor and upregulating Norrie disease protein.

Wnt-Spectrum Vitreoretinopathy Masquerading as Congenital Toxoplasmosis.

WNT7A/B promote choroidal neovascularization.

Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease.

Refractory epilepsy in Norrie disease.

Identification of A Novel Missense Mutation in The Norrie Disease Gene: The First Molecular Genetic Analysis and Prenatal Diagnosis of Norrie Disease in An Iranian Family.

A novel contiguous deletion involving NDP, MAOB and EFHC2 gene in a patient with familial Norrie disease: bilateral blindness and leucocoria without other deficits.

Next-generation sequencing reveals a novel NDP gene mutation in a Chinese family with Norrie disease.

Cochlear Implants and Psychiatric Assessments: a Norrie Disease Case Report.

A novel c.240_241insGG mutation in NDP gene in a family with Norrie disease.

Norrin treatment improves ganglion cell survival in an oxygen-induced retinopathy model of retinal ischemia.

Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy.

The importance of biochemical and genetic findings in the diagnosis of atypical Norrie disease.

Clinical and genetic analysis of Indian patients with NDP-related retinopathies.

Long-term consequences of developmental vascular defects on retinal vessel homeostasis and function in a mouse model of Norrie disease.

Prenatal Diagnosis of a Case of Norrie Disease with Late Development of Bilateral Ocular Malformation.

Repair of Total Tractional Retinal Detachment in Norrie Disease: Report of Technique and Successful Surgical Outcome.

Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea.

[Preimplantation genetic diagnosis and monogenic inherited eye diseases].

A novel missense mutation of NDP in a Chinese family with X-linked familial exudative vitreoretinopathy.

Plasmalemma vesicle-associated protein: A crucial component of vascular homeostasis.

Prenatal Diagnosis of Persistent Hyperplastic Primary Vitreous: Report of 2 Cases and Review of the Literature.

WNT Stimulation Dissociates a Frizzled 4 Inactive-State Complex with Gα12/13.

Immediate Sequential Bilateral Pediatric Vitreoretinal Surgery: An International Multicenter Study.

Mutation spectrum of the Norrie disease pseudoglioma (NDP) gene in Indian patients with FEVR.

Differential diagnosis of Norrie disease and X-linked familial exudative vitreoretinopathy (XL-FEVR) based on clinical and molecular evaluation.

A novel c.2T>A NDP missense mutation in a Chinese family with Norrie disease.

Bilateral persistent fetal vasculature due to a mutation in the Norrie disease protein gene.

[Analysis of the NDP gene in a Chinese family with X-linked recessive Norrie disease].

Familial Exudative Vitreoretinopathy.

Structure and functional properties of Norrin mimic Wnt for signalling with Frizzled4, Lrp5/6, and proteoglycan.

Frizzled-4 Variations Associated with Retinopathy and Intrauterine Growth Retardation: A Potential Marker for Prematurity and Retinopathy.

Peripheral Avascular Retina in a Term Male Neonate With Microvillus Inclusion Disease and Pancreatic Insufficiency.

Utilization of gene mapping and candidate gene mutation screening for diagnosing clinically equivocal conditions: a Norrie disease case study.

Epilepsy phenotypes in siblings with Norrie disease.

Complex genetics of familial exudative vitreoretinopathy and related pediatric retinal detachments.