Disease: Cataract dental syndrome
- A case of adult-onset Wolfram syndrome with compound heterozygous mutations of the WFS1 gene
- A contiguous microdeletion syndrome at Xp23.13 with non-obstructive azoospermia and congenital cataracts
- A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS
- A large deletion spanning <em>PITX2</em> and <em>PANCR</em> in a Chinese family with Axenfeld-Rieger syndrome
- A novel deletion mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case report
- A novel frameshift mutation in the NHS gene causes Nance-Horan syndrome in a Chinese family
- A novel Nance-Horan syndrome mutation identified by next-generation sequencing in a Chinese family
- A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family
- A novel NHS mutation in a Chinese family with Nance-Horan Syndrome
- A novel NHS mutation in a Chinese family with Nance‑Horan Syndrome
- A novel small deletion in the NHS gene associated with Nance-Horan syndrome
- A novel Xp22.13 microdeletion in Nance-Horan syndrome
- A previously unreported association between Nance-Horan syndrome and spontaneous dental abscesses
- A Turkish family with Nance-Horan Syndrome due to a novel mutation
- Allelic and dosage effects of NHS in X-linked cataract and Nance-Horan syndrome: a family study and literature review
- Capacity problems in the NHS's cardiac cath labs are harming patients
- Circular RNA circNHSL1 Contributes to Gastric Cancer Progression Through the miR-149-5p/YWHAZ Axis
- Clinical efficacy of diquafosol sodium 3% versus hyaluronic acid 0.1% in patients with dry eye disease after cataract surgery: a protocol for a single-centre, randomised controlled trial
- Clinical Role of Epigenetics and Network Analysis in Eye Diseases: A Translational Science Review
- Commentary on 'Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome'
- Comparison of combination therapy of prednisolone and cyclosporine with corticosteroid pulse therapy in Vogt-Koyanagi-Harada disease
- Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?
- Diagnostic and severity scores for Cockayne syndrome
- Double Mesiodens in the Mixed Dentition of Non-syndromic North-Indian Patients: A Case Series
- Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes
- Endocrine and behavioural features of Lowe syndrome and their potential molecular mechanisms
- Expanding the phenotypic spectrum of ARCN1-related syndrome
- Extended Overview of Ocular Phenotype with Recent Advances in Hypohidrotic Ectodermal Dysplasia
- Factors associated with low prevalence of Fuchs' uveitis syndrome in Japan
- Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the <em>NHS</em> Gene in a Patient with Syndromic Cataracts
- Five-year follow-up outcomes of comprehensive rehabilitation in Korean siblings with cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome: A case report
- Genetic background of supernumerary teeth
- Genetic research on Nance-Horan syndrome caused by a new novel in the NHS
- Genetic research on Nance-Horan syndrome caused by a novel mutation in the NHS gene
- Germline <em>NUP98</em> Variants in Two Siblings with a Rothmund-Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling
- Government wants to blame NHS's problems on strikes, says Labour
- Great clinical variability of Nance Horan syndrome due to deleterious <em>NHS</em> mutations in two unrelated Spanish families
- Great clinical variability of Nance Horan syndrome due to deleterious NHS mutations in two unrelated Spanish families
- Hallermann Streiff syndrome: Cranio-facial manifestations systematic review and report of two cases
- Hallermann-Streiff Syndrome and Psychosis: A Case Report
- Hallermann-Streiff syndrome diagnosed in the seventh decade of life
- Hallermann-Streiff syndrome with uncommon ocular features, ultrasound biomicroscopy and optical coherence tomography findings: A case report
- Identification and characterization of human GUKH2 gene in silico
- Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome
- Identification of a novel microdeletion causative of Nance-Horan syndrome
- Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing
- Identification of a novel NHS mutation in a Chinese family with Nance-Horan syndrome
- Identification of a novel variant of NHS gene underlying Nance-Horan syndrome
- Identification of the gene for Nance-Horan syndrome (NHS)
- Identification of three novel NHS mutations in families with Nance-Horan syndrome
- Incidence of environmental and genetic factors causing congenital cataract in Children of Lahore
- Is the NHS's urgent and emergency care plan delivering what patients need?
- ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta
- Main genetic entities associated with supernumerary teeth
- Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation
- Nance-Horan syndrome in females due to a balanced X;1 translocation that disrupts the NHS gene: Familial case report and review of the literature
- Nance-Horan syndrome pedigree due to a novel microdeletion and skewed X chromosome inactivation
- Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions
- Nance-Horan Syndrome-like 1 protein negatively regulates Scar/WAVE-Arp2/3 activity and inhibits lamellipodia stability and cell migration
- Nance-Horan syndrome-The oral perspective on a rare disease
- Nance-Horan Syndrome: A Rare Case Report
- Nance-Horan Syndrome: characterization of dental, clinical and molecular features in three new families
- New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands
- NHS Gene Mutations in Ashkenazi Jewish Families with Nance-Horan Syndrome
- NHS-A isoform of the NHS gene is a novel interactor of ZO-1
- NHS's pandemic experience is to have had the fault lines in its working revealed
- Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform
- Ocular severe involvement in oculofaciocardiodental syndrome: Description of a case series
- Oculo-facio-cardio-dental syndrome caused by <em>BCOR</em> gene mutations: a case report
- Oculo-Facio-Cardio-Dental Syndrome: A Case Report about a Rare Pathological Condition
- Oculofaciocardiodental syndrome caused by a novel BCOR variant
- Ophthalmic pathology of Nance-Horan syndrome: case report and review of the literature
- Oral Manifestations of Nance-Horan Syndrome: A Report of a Rare Case
- Organization and annotation of the Xcat critical region: elimination of seven positional candidate genes
- Partha Kar: It's time for accountability and discomfort about the NHS's workforce inequalities
- Pediatric Cataract
- Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies
- Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome)
- Planar polarity pathway and Nance-Horan syndrome-like 1b have essential cell-autonomous functions in neuronal migration
- Precocious puberty and anal stenosis in an African patient with Rothmund-Thomson syndrome
- Prenatal detection of congenital bilateral cataract leading to the diagnosis of Nance-Horan syndrome in the extended family
- Progressive bilateral nuclear cataracts associated with cerebellar-facial-dental syndrome: case report, literature review, and identification of a new genetic variant
- Prominent and Regressive Brain Developmental Disorders Associated with Nance-Horan Syndrome
- Proteogenomics Integrating Novel Junction Peptide Identification Strategy Discovers Three Novel Protein Isoforms of Human NHSL1 and EEF1B2
- Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes
- Refinement of the X-linked cataract locus (CXN) and gene analysis for CXN and Nance-Horan syndrome (NHS)
- Review Recent progress in identification and characterization of loci associated with sex-linked congenital cataract
- Severe visual impairment and retinal changes in a boy with a deletion of the gene for Nance-Horan syndrome
- Short Stature Syndromes: Case Series from India
- Syndromes with supernumerary teeth
- The first case report of CODAS syndrome in Chinese population caused by two <em>LONP1</em> pathogenic mutations
- The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly
- The Nance-Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology
- The NHS's forgotten workforce-a historical essay by Jennifer Crane
- The status of intercellular junctions in established lens epithelial cell lines
- Truncating mutation in the NHS gene: phenotypic heterogeneity of Nance-Horan syndrome in an asian Indian family
- Two cases of severe congenital hypotrichosis caused by compound heterozygous mutations in the LSS gene
- Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome
- X-linked cataract and Nance-Horan syndrome are allelic disorders
- Xcat, a novel mouse model for Nance-Horan syndrome inhibits expression of the cytoplasmic-targeted Nhs1 isoform