• A genetic linkage study of a family with Norrie's disease
• A literature review of Norrie disease
• Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome
• Atypical chorioretinal lesions in Siberian Husky dogs with primary angle-closure glaucoma: a case series
• Case Report: A Case of Cotton-Wool Spots After Intravitreal Injection of Conbercept in an Infant With Incontinentia Pigmenti
• Choroideremia in a woman with ectodermal dysplasia and complex translocations involving chromosomes X, 1, and 3
• Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing
• Correction: Identification of a variant in NDP associated with X-linked retinal dysplasia in the English cocker spaniel dog
• Cosegregation of codon 807 mutation of the canine rod cGMP phosphodiesterase beta gene and rcd1
• Early vitrectomy effective for Norrie disease
• Ectopic norrin induces growth of ocular capillaries and restores normal retinal angiogenesis in Norrie disease mutant mice
• Familial cases of Norrie disease detected by copy number analysis
• Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR
• Heterogeneity of congenital retinal non-attachment, falciform folds and retinal dysplasia. A guide to genetic counselling
• Identification of a recurrent missense mutation in the Norrie disease gene associated with a simplex case of exudative vitreoretinopathy
• Identification of a variant in NDP associated with X-linked retinal dysplasia in the English cocker spaniel dog
• In utero diagnosis of Norrie disease and early laser preserves visual acuity
• Incontinentia pigmenti (Bloch-Sulzberger syndrome)
• Incontinentia pigmenti in adults
• Introduction to genetics in ophthalmology, value of family studies
• Introduction to genetics in ophthalmology. Value of family studies
• Is Roifman syndrome an X-linked ciliopathy with humoral immunodeficiency? Evidence from 2 new cases
• Is the male Aicardi's characterized by 46 XXY karyotype?
• Laser photocoagulation at birth prevents blindness in Norrie's disease diagnosed using amniocentesis
• Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency
• Mild optic nerve hypoplasia with retinal venous tortuosity in aarskog (facial-digital-genital) syndrome
• Multiple requirements of the focal dermal hypoplasia gene porcupine during ocular morphogenesis
• Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency
• Ocular findings in a new heritable syndrome of brain, eye, and urogenital abnormalities
• Ophthalmologic findings in Aicardi syndrome
• Ophthalmologic manifestations of focal dermal hypoplasia (Goltz syndrome): A case series of 18 patients
• Paediatric retinal detachment and hereditary vitreoretinal disorders
• Peripheral retinopathy in offspring of carriers of Norrie disease gene mutations. Possible transplacental effect of abnormal Norrin
• PHENOTYPIC HETEROGENEITY IN A FAMILY WITH X-LINKED FAMILIAL EXUDATIVE VITREORETINOPATHY WITH PREVENTION OF VISUAL LOSS IN AN AFFECTED MALE CHILD WITH LASER TREATMENT IN INFANCY
• Photoreceptor dysplasia (pd) in miniature schnauzer dogs: evaluation of candidate genes by molecular genetic analysis
• Photoreceptor proliferation and dysregulation of cell cycle genes in early onset inherited retinal degenerations
• Prenatal diagnosis of X-linked choroideremia with mental retardation, associated with a cytologically detectable X-chromosome deletion
• Primary vitreoretinal dysplasia resembling Norrie's disease in a female: association with X autosome chromosomal translocation
• Repair of Total Tractional Retinal Detachment in Norrie Disease: Report of Technique and Successful Surgical Outcome
• The cognitive and behavioural phenotype of Roifman syndrome
• The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome
• The heterozygote female in X-linked recessive primary retinal dysplasia
• The Str mouse as a model for incontinentia pigmenti
• Two novel mutations in the Norrie disease gene associated with the classical ocular phenotype
• Up-regulation of tumor necrosis factor superfamily genes in early phases of photoreceptor degeneration
• Viral vectors for targeting the canine retina: a review
• X-linked recessive primary retinal dysplasia is linked to the Norrie disease locus
• X-linked recessive primary retinal dysplasia: clinical findings in affected males and carrier females