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BMC Medical Genetics, ISSN 1471-2350, 02/2017, Volume 18, Issue 1, pp. 10 - 10
Journal Article
JOURNAL OF PEDIATRICS, ISSN 0022-3476, 01/2019, Volume 204, pp. 31 - 37
Objectives To characterize the diversity and prevalence of thoraco-abdominal abnormalities in Bardet-Biedl syndrome (BBS), a model ciliopathy for understanding... 
PRIMARY CILIARY DYSKINESIA | BBS1 | RETARDATION | ANOMALIES | MOTILE | LATERALITY DEFECTS | DISEASE | PEDIATRICS | DYSFUNCTION | INVERSUS | TRIALLELIC INHERITANCE
Journal Article
Journal Article
Diabetes & Metabolism Journal, ISSN 2233-6079, 10/2015, Volume 39, Issue 5, pp. 439 - 443
Alström syndrome and Bardet-Biedl syndrome are autosomal recessively inherited ciliopathies with common characteristics of obesity, diabetes, and blindness.... 
BBS1 | Ciliopathy | ALMS1 | diabetes mellitus | Bardet-Biedl syndrome | Alstrom syndrome | Sanger sequencing | Next generation sequencing | whole exome sequencing | Whole exome sequencing | Diabetes mellitus | GENOTYPE-PHENOTYPE CORRELATIONS | VARIANTS | DISEASE | ENDOCRINOLOGY & METABOLISM | ALSTROM | Brief Report
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 6/2010, Volume 107, Issue 23, pp. 10602 - 10607
Journal Article
Journal Article
Molecular Therapy, ISSN 1525-0016, 04/2017, Volume 25, Issue 4, pp. 904 - 916
Olfactory dysfunction is a pervasive but underappreciated health concern that affects personal safety and quality of life. Patients with olfactory dysfunctions... 
BBS1 | gene therapy | Bardet-Biedl syndrome | cilia | olfactory sensory neuron | olfactory | MEDICINE, RESEARCH & EXPERIMENTAL | ADENOASSOCIATED VIRUS | SENSORY NEURONS | CILIA DEFECTS | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | MOUSE MODEL | GENETICS & HEREDITY | SYNDROME PROTEINS | MICE | QUANTITATIVE FREEZE-FRACTURE | BBSOME | TYROSINE-HYDROXYLASE EXPRESSION | INTRAFLAGELLAR TRANSPORT | Dependovirus - genetics | Genetic Therapy | Genetic Vectors - administration & dosage | Microtubule-Associated Proteins - genetics | Microtubule-Associated Proteins - metabolism | Humans | Bardet-Biedl Syndrome - therapy | Olfactory Perception - genetics | Bardet-Biedl Syndrome - genetics | Disease Models, Animal | Gene Transfer Techniques | Gene Expression | Cilia - pathology | Transduction, Genetic | Ectopic Gene Expression | Bardet-Biedl Syndrome - physiopathology | Cilia - metabolism | Genetic Vectors - genetics | Olfactory Receptor Neurons - metabolism | Mice, Knockout | Protein Transport | Phenotype | Animals | Alleles | Mice | Mutation | Disease | Cytology | Recovery of function | Biosynthesis | Mammals | Quality of life | Proteins | Sensory evaluation | Adenoviruses | Olfaction | Conflicts of interest | Sensory neurons | Serotypes | Olfactory receptor neurons | Gene therapy | Protein transport | Localization | Odor | Cilia | Index Medicus | Original
Journal Article
Journal Article
American Journal of Ophthalmology, ISSN 0002-9394, 2015, Volume 160, Issue 2, pp. 364 - 372.e1
Journal Article
PLoS ONE, ISSN 1932-6203, 09/2015, Volume 10, Issue 9, pp. e0136317 - e0136317
Journal Article
Diabetes and Metabolism Journal (DMJ), ISSN 2233-6079, 2015, Volume 39, Issue 5, p. 439
Background: Alstr.m syndrome and Bardet-Biedl syndrome are autosomal recessively inherited ciliopathies with common characteristics of obesity, diabe