Disease: Nystagmus 4- congenital- autosomal dominant
- A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3
- A new dominantly inherited pure cerebellar ataxia, SCA 30
- A novel de novo PAX6 mutation in an Ashkenazi-Jewish family with aniridia
- A novel variant in DOCK6 gene associated with Adams-Oliver syndrome type 2
- A review of the molecular genetics of congenital Idiopathic Nystagmus (CIN)
- A syndrome involving congenital cataracts of unusual morphology, microcornea, abnormal irides, nystagmus and congenital glaucoma, inherited as an autosomal dominant trait
- An unusual occurrence of Karsch-Neugebauer syndrome with orodental anomalies
- Analysis of genotype-phenotype correlations in <em>PAX6</em>-associated aniridia
- Analysis of the CHN1 gene in patients with various types of congenital ocular motility disorders
- Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus
- Autosomal dominant foveal hypoplasia without visible macular abnormalities and PAX6 mutations
- Autosomal dominant inheritance in a large family with focal facial dermal dysplasia (Brauer-Setleis syndrome)
- Autosomal dominant non-syndromal low-frequency sensorineural hearing impairment linked to chromosome 4p16 (DFNA14): statistical analysis of hearing threshold in relation to age and evaluation of vestibulo-ocular functions
- Autosomal dominant vitreoretinochoroidopathy
- Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation
- CFC syndrome: a syndrome distinct from Noonan syndrome
- Compound heterozygous novel frameshift variants in the <em>PROM1</em> gene result in Leber congenital amaurosis
- Compound heterozygous novel frameshift variants in the PROM1 gene result in Leber congenital amaurosis
- Congenital and infantile cataract: aetiology and management
- Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome)
- Congenital motor nystagmus linked to Xq26-q27
- Diagnostic survey at Yamanashi School for Blind: importance of heredity
- Familial congenital aniridia
- Genetic and Clinical Profile of Chinese Patients with Autosomal Dominant Spastic Paraplegia
- Macular coloboma in siblings affected by different phenotypes of retinitis pigmentosa
- Motor and sensory characteristics of infantile nystagmus
- Neural circuit involved in idiopathic infantile nystagmus syndrome based on FMRI
- Neurological manifestations of the oculodentodigital dysplasia syndrome
- Novel variants in GUCY2D causing retinopathy and the genotype-phenotype correlation
- Ocular manifestations of Noonan syndrome
- Overgrowth, congenital hypotonia, nystagmus, strabismus, and mental retardation: variant of dominantly inherited Sotos sequence?
- Pediatric Cataract
- The effect of 3,4-diaminopyridine on the patients with hereditary pure cerebellar ataxia
- The load of genetic and partially genetic disease in man. IV. Severe visual handicaps and profound childhood deafness in Hungarian school-age children