Disease: Norrie disease
- A novel c.287G>T <em>NDP</em> missense mutation in a Chinese family with Norrie disease
- A novel c.287G>T NDP missense mutation in a Chinese family with Norrie disease
- 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
- A systematic review and meta-analysis of the diagnostic accuracy of point-of-care tests used to establish the presence of peripheral arterial disease in people with diabetes
- Acetylcysteine has No Mechanistic Effect in Patients at Risk of Contrast-Induced Nephropathy: A Failure of Academic Clinical Science
- 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
- Basic versus biofeedback-mediated intensive pelvic floor muscle training for women with urinary incontinence: the OPAL RCT
- Case report: A case of Norrie disease due to deletion of the entire coding region of <em>NDP</em> gene
- Case report: A case of Norrie disease due to deletion of the entire coding region of NDP gene
- 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
- 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
- Development of an educational intervention to reduce the burden of adult chronic lung disease in rural India: Inputs from a qualitative study
- Digital auscultation as a novel childhood pneumonia diagnostic tool for community clinics in Sylhet, Bangladesh: protocol for a cross-sectional study
- 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
- Early diagnosis of brain tumours using a novel spectroscopic liquid biopsy
- Early Signs Monitoring to Prevent Relapse in Psychosis and Promote Well-Being, Engagement, and Recovery: Protocol for a Feasibility Cluster Randomized Controlled Trial Harnessing Mobile Phone Technology Blended With Peer Support
- Economic evaluation alongside the Probiotics to Prevent Severe Pneumonia and Endotracheal Colonization Trial (E-PROSPECT): study protocol
- 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
- Essential oils for agitation in dementia [rELOAD]: A pragmatic, cluster-randomized, placebo-controlled, pilot feasibility trial
- Ethacrynic acid, a loop diuretic, suppresses epithelial-mesenchymal transition of A549 lung cancer cells via blocking of NDP-induced WNT signaling
- Evaluation of new or repurposed treatments for COVID-19: protocol for the phase Ib/IIa DEFINE trial platform
- Examining the impact of oral hygiene advice and/or scale and polish on periodontal disease: the IQuaD cluster factorial randomised controlled trial
- 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
- Five-Year Outcomes of a Randomized Trial of Treatments for Varicose Veins
- Guiding Therapy by Coronary CT Angiography Improves Outcomes in Patients With Stable Chest Pain
- Health care need and health disparities: Findings from the Regional South Australia Health (RESONATE) survey
- Hearing Function, Degeneration, and Disease: Spotlight on the Stria Vascularis
- High-sensitivity cardiac troponin and the diagnosis of myocardial infarction in patients with kidney impairment
- 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
- 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
- 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
- Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease
- MYCN amplification and ATRX mutations are incompatible in neuroblastoma
- NDP-related retinopathies: clinical phenotype of female carriers
- Next-generation sequencing reveals a case of Norrie disease in a child with bilateral ocular malformation
- Norrie disease caused by a c.361C>T missense variant of the NDP gene in a pedigree
- Norrie disease caused by a c.361C>T missense variant of the NDP gene in a pedigree
- Norrie disease protein is essential for cochlear hair cell maturation
- Norrie disease with a spontaneously shrinking choroid plexus abnormality: a case report
- 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
- Photodynamic versus white light-guided treatment of non-muscle invasive bladder cancer: a study protocol for a randomised trial of clinical and cost-effectiveness
- 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
- 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
- Primary trabeculectomy versus primary glaucoma eye drops for newly diagnosed advanced glaucoma: TAGS RCT
- Psychological intervention, antipsychotic medication or a combined treatment for adolescents with a first episode of psychosis: the MAPS feasibility three-arm RCT
- Randomised controlled trial of intravenous nafamostat mesylate in COVID pneumonitis: Phase 1b/2a experimental study to investigate safety, Pharmacokinetics and Pharmacodynamics
- Randomized, Placebo Controlled Trial of Experimental Hookworm Infection for Improving Gluten Tolerance in Celiac Disease
- Reducing Asthma Attacks in Children using Exhaled Nitric Oxide as a biomarker to inform treatment strategy: a randomised trial (RAACENO)
- 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
- Retinoblastoma from human stem cell-derived retinal organoids
- Retinoschisis and Norrie disease: a missing link
- Risk-based, 6-monthly and 24-monthly dental check-ups for adults: the INTERVAL three-arm RCT
- Sex-Specific Thresholds of High-Sensitivity Troponin in Patients With Suspected Acute Coronary Syndrome
- Shockwave lithotripsy compared with ureteroscopic stone treatment for adults with ureteric stones: the TISU non-inferiority RCT
- Shockwave Lithotripsy Versus Ureteroscopic Treatment as Therapeutic Interventions for Stones of the Ureter (TISU): A Multicentre Randomised Controlled Non-inferiority Trial
- Some challenges of sparse data necessitating strong assumptions in investigating early COVID-19 disease
- Spectrum of Mutations in <em>NDP</em> Resulting in Ocular Disease; a Systematic Review
- SPIKE-1: A Randomised Phase II/III trial in a community setting, assessing use of camostat in reducing the clinical progression of COVID-19 by blocking SARS-CoV-2 Spike protein-initiated membrane fusion
- Statin treatment and muscle symptoms: series of randomised, placebo controlled n-of-1 trials
- 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 myogenesis program drives clonal selection and drug resistance in rhabdomyosarcoma
- The role of PLVAP in endothelial cells
- 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
- 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
- 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)
- Xp11.3 microdeletion causing Norrie disease and X-linked Kabuki syndrome