Disease: Nance-Horan syndrome
- 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 locus for isolated cataract on human Xp
- 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
- Assignment of the Nance-Horan syndrome to the distal short arm of the X chromosome
- Capacity problems in the NHS's cardiac cath labs are harming patients
- Cataracts-oto-dental defects (Nance-Horan syndrome)
- Circular RNA circNHSL1 Contributes to Gastric Cancer Progression Through the miR-149-5p/YWHAZ Axis
- Commentary on 'Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome'
- Congenital diaphragmatic hernia as a part of Nance-Horan 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
- Exclusion of RAI2 as the causative gene for Nance-Horan syndrome
- Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the <em>NHS</em> Gene in a Patient with Syndromic Cataracts
- Genetic background of supernumerary teeth
- Genetic localization and phenotypic expression of X-linked cataract (Xcat) in Mus musculus
- 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
- 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
- Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region
- 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
- Mapping of the X-linked cataract (Xcat) mutation, the gene implicated in the Nance Horan syndrome, on the mouse X chromosome
- Mapping the gene for X-linked cataracts and microcornea with facial, dental, and skeletal features to Xp22: an appraisal of the Nance-Horan syndrome
- Mapping X-linked ophthalmic diseases. IV. Provisional assignment of the locus for X-linked congenital cataracts and microcornea (the Nance-Horan syndrome) to Xp22.2-p22.3
- Mental retardation in Nance-Horan syndrome: clinical and neuropsychological assessment in four families
- Microphthalmia/Anophthalmia/Coloboma Spectrum – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY
- 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 contiguous gene syndrome involving deletion of the amelogenin gene? A case report and molecular analysis
- Nance-Horan Syndrome: A Rare Case Report
- Nance-Horan Syndrome: characterization of dental, clinical and molecular features in three new families
- Nance-Horan syndrome: linkage analysis in 4 families refines localization in Xp22.31-p22.13 region
- Nance-Horan syndrome: linkage analysis in a family from The Netherlands
- Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis
- 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
- Non-syndromic posterior lenticonus a cause of childhood cataract: evidence for X-linked inheritance
- Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform
- 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
- 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
- Prenatal detection of congenital bilateral cataract leading to the diagnosis of Nance-Horan syndrome in the extended family
- 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 missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly
- The Nance-Horan syndrome
- The Nance-Horan syndrome of dental anomalies, congenital cataracts, microphthalmia, and anteverted pinna: case report
- 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 Nance-Horan syndrome: a rare X-linked ocular-dental trait with expression in heterozygous females
- 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
- 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