Disease: Norrie disease
- A novel c.240_241insGG mutation in NDP gene in a family with Norrie disease
- A novel c.287G>T NDP missense mutation in a Chinese family with Norrie disease
- A novel contiguous deletion involving NDP, MAOB and EFHC2 gene in a patient with familial Norrie disease: bilateral blindness and leucocoria without other deficits
- A novel frameshift c.22_25dupGCAT mutation of the NDP gene in a Chinese infant with Norrie disease: A case report
- A Survey of Multigenic Protein-Altering Variant Frequency in Familial Exudative Vitreo-Retinopathy (FEVR) Patients by Targeted Sequencing of Seven FEVR-Linked Genes
- An Inhaled Galectin-3 Inhibitor in COVID-19 Pneumonitis: A Phase Ib/IIa Randomized Controlled Clinical Trial (DEFINE)
- Assessment of Oxygen Supply-Demand Imbalance and Outcomes Among Patients With Type 2 Myocardial Infarction: A Secondary Analysis of the High-STEACS Cluster Randomized Clinical Trial
- Avascular Peripheral Retina in Infants
- Case report: A case of Norrie disease due to deletion of the entire coding region of NDP gene
- Clinical and genetic analysis of Indian patients with NDP-related retinopathies
- Clinical Exome Sequencing Identifies <em>NDP</em> Gene Variants in Two Chinese Families with X-Linked Norrie Disease
- Clinical Exome Sequencing Identifies NDP Gene Variants in Two Chinese Families with X-Linked Norrie Disease
- Co-Benefits of Largescale Organic farming On huMan health (BLOOM): Protocol for a cluster-randomised controlled evaluation of the Andhra Pradesh Community-managed Natural Farming programme in India
- Cochlear Implants and Psychiatric Assessments: a Norrie Disease Case Report
- Complex genetics of familial exudative vitreoretinopathy and related pediatric retinal detachments
- Comprehensive analysis of syndromic hearing loss patients in Japan
- Cost-effectiveness of cognitive behavioural and personalised exercise interventions for reducing fatigue in inflammatory rheumatic diseases
- Cost-effectiveness of primary surgical versus primary medical management in the treatment of patients presenting with advanced glaucoma
- 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
- Differential diagnosis of Norrie disease and X-linked familial exudative vitreoretinopathy (XL-FEVR) based on clinical and molecular evaluation
- Digital smartphone intervention to recognise and manage early warning signs in schizophrenia to prevent relapse: the EMPOWER feasibility cluster RCT
- Dual phenotype: co-occurring Leber congenital amaurosis and familial exudative vitreoretinopathy: a case report
- Effects of socioeconomic status on baseline values and outcomes at 24 months in the Treatment of Advanced Glaucoma Study randomised controlled Trial
- Endolymphatic Hydrop Phenotype in Familial Norrie Disease Caused by Large Fragment Deletion of <em>NDP</em>
- Endolymphatic Hydrop Phenotype in Familial Norrie Disease Caused by Large Fragment Deletion of NDP
- Endothelial Cell-Specific Inactivation of TSPAN12 (Tetraspanin 12) Reveals Pathological Consequences of Barrier Defects in an Otherwise Intact Vasculature
- Ethacrynic acid, a loop diuretic, suppresses epithelial-mesenchymal transition of A549 lung cancer cells via blocking of NDP-induced WNT signaling
- Familial Exudative Vitreoretinopathy With and Without Pathogenic Variants of Norrin/β-Catenin Signaling Genes
- Feasibility and acceptability of bubble continuous positive airway pressure oxygen therapy for the treatment of childhood severe pneumonia and hypoxaemia in Bangladeshi children
- First implication of MIP in bilateral microphthalmia with persistent fetal vasculature
- Genetic analysis and prenatal diagnosis for a pedigree affected with X-linked Norrie disease
- Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy
- Germline Mutations in CTNNB1 Associated With Syndromic FEVR or Norrie Disease
- Hearing Function, Degeneration, and Disease: Spotlight on the Stria Vascularis
- Hypoxia tolerance in the Norrin-deficient retina and the chronically hypoxic brain studied at single-cell resolution
- 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
- Identification of a variant in NDP associated with X-linked retinal dysplasia in the English cocker spaniel dog
- Identification of Gene Mutations in Atypical Retinopathy of Prematurity Cases
- Impact of sight and hearing loss in patients with Norrie disease: advantages of Dual Sensory clinics in patient care
- Introgression of regulatory alleles and a missense coding mutation drive plumage pattern diversity in the rock pigeon
- Investigating the Impact of Dimer Interface Mutations on Norrin's Secretion and Norrin/β-Catenin Pathway Activation
- Leukocoria
- Leukocoria
- Long-Term Anatomic and Visual Outcomes of Planned Preterm Delivery and Treatment of Norrie Disease
- Long-term consequences of developmental vascular defects on retinal vessel homeostasis and function in a mouse model of Norrie disease
- Loss of Tbx3 in Mouse Eye Causes Retinal Angiogenesis Defects Reminiscent of Human Disease
- Mechanisms Underlying Rare Inherited Pediatric Retinal Vascular Diseases: FEVR, Norrie Disease, Persistent Fetal Vascular Syndrome
- Modified-release morphine or placebo for chronic breathlessness: the MABEL trial protocol
- Molecularly defined cortical astroglia subpopulation modulates neurons via secretion of Norrin
- Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease
- NDP-related retinopathies: clinical phenotype of female carriers
- Next-generation sequencing reveals a case of Norrie disease in a child with bilateral ocular malformation
- Next-generation sequencing reveals a novel NDP gene mutation in a Chinese family with Norrie disease
- Norrie disease caused by a c.361C>T missense variant of the NDP gene in a pedigree
- Norrie disease gene polymorphism in Indonesian infants with retinopathy of prematurity
- Norrie disease protein is essential for cochlear hair cell maturation
- Norrie disease with a spontaneously shrinking choroid plexus abnormality: a case report
- Norrin treatment improves ganglion cell survival in an oxygen-induced retinopathy model of retinal ischemia
- Novel mutation in <em>CTNNB1</em> causes familial exudative vitreoretinopathy (FEVR) and microcephaly: case report and review of the literature
- Novel mutation in the NDP gene associated with Norrie disease in a Chinese pedigree
- Novel Norrie disease gene mutations in Chinese patients with familial exudative vitreoretinopathy
- Novel Pathogenic Variant in the Cys110 Residue: A Genotype-Phenotype Report of a Patient with Norrie Disease
- Ocular Manifestations in Patients with Sensorineural Hearing Loss
- Ocular manifestations of Chinese patients with copy number variants in the <em>NDP</em> gene
- Ocular manifestations of Norrie disease
- Overlap between ophthalmology and psychiatry - A narrative review focused on congenital and inherited conditions
- Planned Preterm Delivery and Treatment of Severe Infantile FEVR With Osteoporosis-Pseudoglioma Syndrome
- Predictors of long-term intraocular pressure control after lens extraction in primary angle closure glaucoma: results from the EAGLE trial
- Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease
- Prenatal Diagnosis of a Case of Norrie Disease with Late Development of Bilateral Ocular Malformation
- Prenatal diagnosis of familial exudative vitreoretinopathy and Norrie disease
- Prenatal diagnosis of Lowe syndrome in a male fetus with isolated bilateral cataract
- Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report
- Prenatal diagnosis of Norrie disease based on ultrasound findings
- Refractory epilepsy in Norrie disease
- Remotely delivered cognitive behavioural and personalised exercise interventions for fatigue severity and impact in inflammatory rheumatic diseases (LIFT): a multicentre, randomised, controlled, open-label, parallel-group trial
- Remotely delivered cognitive-behavioural and personalized exercise interventions to lessen the impact of fatigue: a qualitative evaluation
- Retinoschisis and Norrie disease: a missing link
- Spectrum of Mutations in <em>NDP</em> Resulting in Ocular Disease; a Systematic Review
- Structure and function of the retina of low-density lipoprotein receptor-related protein 5 (Lrp5)-deficient rats
- Study protocol for a multicentre comparative diagnostic accuracy study of tools to establish the presence and severity of peripheral arterial disease in people with diabetes mellitus: the DM PAD study
- Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease
- The importance of biochemical and genetic findings in the diagnosis of atypical Norrie disease
- The myogenesis program drives clonal selection and drug resistance in rhabdomyosarcoma
- The role of PLVAP in endothelial cells
- The tale of capturing Norrin
- The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention
- The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies
- Thinking outside the box: cataplexy without narcolepsy
- Transabdominal Fetal Ultrasound Before Early-Term Planned Delivery for Norrie Disease
- Troponin in acute chest pain to risk stratify and guide effective use of computed tomography coronary angiography (TARGET-CTCA): a randomised controlled trial
- Use of the oral beta blocker bisoprolol to reduce the rate of exacerbation in people with chronic obstructive pulmonary disease (COPD): a randomised controlled trial (BICS)
- Validation of the myocardial-ischaemic-injury-index machine learning algorithm to guide the diagnosis of myocardial infarction in a heterogenous population: a prespecified exploratory analysis
- Vascular regeneration in adult mouse cochlea stimulated by VEGF-A<sub>165</sub> and driven by NG2-derived cells ex vivo
- Whole exome sequencing revealed novel pathogenic variants in Vietnamese patients with FEVR
- 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)
- Wnt Signaling in vascular eye diseases
- Wnt-Spectrum Vitreoretinopathy Masquerading as Congenital Toxoplasmosis
- WNT7A/B promote choroidal neovascularization
- Xp11.3 microdeletion causing Norrie disease and X-linked Kabuki syndrome