About: Hereditary eye disease

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Attributs	Valeurs
type	Concept
rdfs:label	Hereditary eye disease
skos:inScheme	http://hub.abes.fr/referentiel/hwpjournalcoll
is Subject of	Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa Homozygosity mapping to the USH2A locus in two isolated populations Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations Variability of sexual phenotype in 46,XX(SRY+) patients: the influence of spreading X inactivation versus position effects Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene Genetic analysis of the guanylate cyclase activator 1B (GUCA1B) gene in patients with autosomal dominant retinal dystrophies Clinical and laboratory findings in referrals for mitochondrial DNA analysis An aetiological study of 25 mentally retarded adults with autism NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene Achromatopsia caused by novel mutations in both CNGA3 and CNGB3 New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey Exclusion of a disease relevant role of PAX4 in the aetiology of Silver-Russell syndrome: screening for mutations and determination of imprinting status Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the α subunit of cone transducin (GNAT2) Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa MYO7A mutation screening in Usher syndrome type I patients from diverse origins Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network Mapping a new genetic locus for X linked retinitis pigmentosa to Xq28 Development of a genotyping microarray for Usher syndrome Proximal 10q trisomy: a new case with anal atresia Identifying pathogenic genetic background of simplex or multiplex retinitis pigmentosa patients: a large scale mutation screening study Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections A new phenotype of recessively inherited foveal hypoplasia and anterior segment dysgenesis maps to a locus on chromosome 16q23.2-24.2. Modifier controls severity of a novel dominant low-frequency MyosinVIIA (MYO7A) auditory mutation Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia A new genetic locus for X linked progressive cone-rod dystrophy P gene mutations in patients with oculocutaneous albinism and findings suggestive of Hermansky-Pudlak syndrome Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome Autosomal recessive retinitis pigmentosa locusRP28 maps between D2S1337 and D2S286 on chromosome 2p11-p15 in an Indian family De novo mutations in the 5′ regulatory region of the Norrie disease gene in retinopathy of prematurity The frequency of mtDNA 8994 polymorphism and detection of the NARP 8993 mutation Identical large scale rearrangement of mitochondrial DNA causes Kearns-Sayre syndrome in a mother and her son A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family Mutation analysis of GABRR1 andGABRR2 in autosomal recessive retinitis pigmentosa (RP25) Heterozygous truncating mutation in the human homeobox gene GSH2 has no discernable phenotypic effect Compensatory amplification of mtDNA in a patient with a novel deletion/duplication and high mutant load Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families Inherited mitochondrial optic neuropathies Hypogonadotrophic hypogonadism, short stature, cerebellar ataxia, rod-cone retinal dystrophy, and hypersegmented neutrophils: a novel disorder or a new variant of Boucher-Neuhauser syndrome? Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele In vitro analysis of aminoglycoside therapy for the Arg120stop nonsense mutation in RP2 patients Distinctive audiometric features between USH2A and USH2B subtypes of Usher syndrome Characterisation of repeat and palindrome elements in patients harbouring single deletions of mitochondrial DNA A new locus for a childhood onset, slowly progressive autosomal recessive spinocerebellar ataxia maps to chromosome 11p15 The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy Bardet-Biedl and Cohen syndromes: differential diagnostic criteria Raised risk of Wilms tumour in patients with aniridia and submicroscopic WT1 deletion OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q Oculocutaneous albinism National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy An autosomal recessive cone-rod dystrophy associated with amelogenesis imperfecta A third locus for dominant optic atrophy on chromosome 22q Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90% Autosomal dominant optic atrophy with unilateral facial palsy: a new hereditary condition? Does Bardet-Biedl syndrome have a characteristic face? Hermansky-Pudlak syndrome: infrequent bleeding and first report of Turkish and Pakistani kindreds Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein

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