Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: Mutation spectrum and new genotype-phenotype correlation

Orphanet Journal of Rare Diseases

Volumn 10, Issue 1, 2015, Pages

  Boulanger Scemama, Elise ^a,b,c   El Shamieh, Said ^a,b,c   Démontant, Vanessa ^a,b,c   Condroyer, Christel ^a,b,c   Antonio, Aline ^a,b,c,f   Michiels, Christelle ^a,b,c   Boyard, Fiona ^a,b,c   Saraiva, Jean Paul ^d   Letexier, Mélanie ^d   Souied, Eric ^e   Mohand Saïd, Saddek ^a,b,c,f   Sahel, José Alain ^{a,b,c,f,g,h,i}   Zeitz, Christina ^a,b,c   Audo, Isabelle ^a,b,c,f,i  

^a INSERM   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c CNRS   (France)

^d Parc Scientifique de Luminy   (France)

^e CENTRE HOSPITALIER INTERCOMMUNAL DE CRÉTEIL   (France)

^f CENTRE HOSPITALIER NATIONAL D OPHTALMOLOGIE DES QUINZE VINGTS   (France)

^g FONDATION OPHTALMOLOGIQUE ADOLPHE DE ROTHSCHILD   (France)

^h Académie des Sciences Institut de France ^*  (France)

ⁱ UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Cone rod dystrophy; Genotype phenotype correlation; Inherited retinal disorders; Next generation sequencing

Indexed keywords

ABCA4 GENE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; COHORT ANALYSIS; CONE AND CONE ROD DYSTROPHY; FEMALE; FRENCHMAN; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; GUCY2D GENE; HUMAN; MAJOR CLINICAL STUDY; MALE; NEXT GENERATION SEQUENCING; PHENOTYPE; RETINA DYSTROPHY; COPY NUMBER VARIATION; FRANCE; GENETICS; GENOTYPE; HIGH THROUGHPUT SEQUENCING; MUTATION; PEDIGREE; RETINITIS PIGMENTOSA; UTILIZATION;

COHORT STUDIES; DNA COPY NUMBER VARIATIONS; FEMALE; FRANCE; GENOTYPE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MUTATION; PEDIGREE; PHENOTYPE; RETINITIS PIGMENTOSA;

EID: 84941215667     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-015-0300-3     Document Type: Article

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