Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease

Ophthalmology

Volumn 124, Issue 7, 2017, Pages 985-991

  Taylor, Rachel L ^a,b   Parry, Neil R A ^a,c   Barton, Stephanie J ^b   Campbell, Christopher ^b   Delaney, Claire M ^a,c   Ellingford, Jamie M ^a,b   Hall, Georgina ^a,b   Hardcastle, Claire ^b   Morarji, Jiten ^c   Nichol, Elisabeth J ^c   Williams, Lindsi C ^c   Douzgou, Sofia ^a,b   Clayton Smith, Jill ^a,b   Ramsden, Simon C ^a,b   Sharma, Vinod ^c   Biswas, Susmito ^c   Lloyd, I Chris ^c,d   Ashworth, Jane L ^a,c   Black, Graeme C ^a,b   Sergouniotis, Panagiotis I ^a,b,c  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b ST MARY S HOSPITAL   (United Kingdom)

^c MANCHESTER ROYAL EYE HOSPITAL   (United Kingdom)

^d GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ABCA4 GENE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; BIOINFORMATICS; CACNA1F GENE; CHILD; CLINICAL FEATURE; CONGENITAL STATIONARY NIGHT BLINDNESS; DIAGNOSTIC VALUE; ELECTRODIAGNOSIS; EYE EXAMINATION; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; INHERITED RETINAL DISEASE; MAJOR CLINICAL STUDY; MOLECULAR DIAGNOSIS; NIGHT BLINDNESS; OUTCOME ASSESSMENT; PRIORITY JOURNAL; RETINA DISEASE; RETINA DYSTROPHY; RETINOPATHY; X CHROMOSOME LINKED DISORDER; ADOLESCENT; FEMALE; GENETIC ASSOCIATION STUDY; GENETICS; MALE; METABOLISM; PEDIGREE; PHENOTYPE; PROCEDURES; RETINAL DYSTROPHIES; RETROSPECTIVE STUDY;

EYE PROTEIN;

ADOLESCENT; CHILD; EYE PROTEINS; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC TESTING; HUMANS; MALE; MOLECULAR DIAGNOSTIC TECHNIQUES; PEDIGREE; PHENOTYPE; RETINAL DYSTROPHIES; RETROSPECTIVE STUDIES;

EID: 85015763227     PISSN: 01616420     EISSN: 15494713     Source Type: Journal    
DOI: 10.1016/j.ophtha.2017.02.005     Document Type: Article

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