Good epidemiologic practice in retinitis pigmentosa: From phenotyping to biobanking

Current Genomics

Volumn 12, Issue 4, 2011, Pages 260-266

  Chizzolini, Marzio ^a   Galan, Alessandro ^b   Milan, Elisabeth ^a   Sebastiani, Adolfo ^c   Costagliola, Ciro ^d   Parmeggiani, Francesco ^c  

^a Camposampiero Hospital   (Italy)

^b S ANTONIO HOSPITAL   (Italy)

^c UNIVERSITY OF FERRARA   (Italy)

^d UNIVERSITY OF MOLISE   (Italy)

Author keywords

Biobanking; Clinical phenotyping; Epidemiology; Genetic counseling; Inherited retinal dystrophies; Retinitis pigmentosa

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; BARDET BIEDL SYNDROME; ELECTRORETINOGRAM; EYE EXAMINATION; GENE MUTATION; GENETIC COUNSELING; GENOTYPE; HUMAN; PHENOTYPE; PHOTORECEPTOR; RETINA DYSTROPHY; RETINITIS PIGMENTOSA; USHER SYNDROME; VISION; VISUAL FIELD;

EID: 79959931934     PISSN: 13892029     EISSN: 18755488     Source Type: Journal    
DOI: 10.2174/138920211795860071     Document Type: Article

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