Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: A 22-year prospective, population-based, cohort study

American Journal of Medical Genetics

Volumn 132 A, Issue 4, 2005, Pages 352-360

  Moore, Susan J ^a   Green, Jane S ^a   Fan, Yanli ^b   Bhogal, Ashvinder K ^b   Dicks, Elizabeth ^a   Fernandez, Bridget A ^a   Stefanelli, Mark ^a   Murphy, Christopher ^a   Cramer, Benvon C ^a   Dean, John C S ^c   Beales, Philip L ^d   Katsanis, Nicholas ^e   Bassett, Anne S ^a,f   Davidson, William S ^b   Parfrey, Patrick S ^a,g  

^a MEMORIAL UNIVERSITY OF NEWFOUNDLAND   (Canada)

^b SIMON FRASER UNIVERSITY   (Canada)

^c UNIVERSITY OF ABERDEEN   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e JOHNS HOPKINS UNIVERSITY   (United States)

^f UNIVERSITY OF TORONTO   (Canada)

^g MEMORIAL UNIVERSITY OF NEWFOUNDLAND   (Canada)

Author keywords

Bardet biedl syndrome; Genotype phenotype correlation; Laurence Moon Biedl syndrome

Indexed keywords

ADOLESCENT; ADULT; AGED; ANTHROPOMETRY; ARTICLE; ASTHMA; ATAXIA; BARDET BIEDL SYNDROME; BBS GENE; BLINDNESS; BRACHYCEPHALY; CANADA; CHILD; CHOLELITHIASIS; CLINICAL ARTICLE; COLON DISEASE; CONGENITAL HEART DISEASE; CONTROLLED STUDY; DIABETES MELLITUS; EAR MALFORMATION; FACE DYSMORPHIA; FEMALE; FOLLOW UP; GENE; GENE MUTATION; GENETIC EPIDEMIOLOGY; GENITAL SYSTEM DISEASE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPERTENSION; KIDNEY DISEASE; LAURENCE MOON SYNDROME; MALE; MENTAL DISEASE; MOTOR COORDINATION; MUSCULAR DYSTROPHY; NEUROLOGIC DISEASE; NEUROLOGIC EXAMINATION; OBESITY; PALPEBRAL FISSURE ANOMALY; PEDIGREE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PROTEIN INTERACTION; SPEECH DISORDER;

ADOLESCENT; ADULT; AGED; BARDET-BIEDL SYNDROME; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; FEMALE; GENOTYPE; HUMANS; INFANT; MALE; MIDDLE AGED; MOLECULAR CHAPERONES; MUTATION; NEWFOUNDLAND; PEDIGREE; PHENOTYPE; PREVALENCE; PROTEINS; TIME FACTORS;

ATAXIA;

EID: 19944431708     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30406     Document Type: Article

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