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PLoS ONE, ISSN 1932-6203, 04/2018, Volume 13, Issue 4, p. e0185237
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 08/2014, Volume 132, Issue 8, pp. 1002 - 1004
IMPORTANCE: The NMNAT1 gene was recently found to be mutated in a subset of patients with Leber congenital amaurosis and macular atrophy. The most prevalent... 
GENE | DISEASE | BARDET-BIEDL-SYNDROME | OPHTHALMOLOGY | BBS1 MUTATIONS | RETINITIS-PIGMENTOSA | DEGENERATION | Nicotinamide-Nucleotide Adenylyltransferase - genetics | Leber Congenital Amaurosis - genetics | Mutation | Humans | Gene mutations | Analysis | Genetic aspects | Leber's congenital amaurosis | Research | Homozygosity | Risk factors
Journal Article
Journal Article
Molecular Therapy - Nucleic Acids, ISSN 2162-2531, 12/2019, Volume 18, pp. 123 - 130
Manipulation of pre-mRNA processing is a promising approach toward overcoming disease-causing mutations and treating human diseases. We show that a combined... 
AON | BBS1 | mutation | splice defect | Bardet-Biedl Syndrome 1 | antisense oligonucleotide | genetic therapy | gene therapy | splicing | U1 snRNA
Journal Article
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 | Alstrom syndrome | Bardet-Biedl syndrome | diabetes mellitus | Sanger sequencing | Next generation sequencing | whole exome sequencing | Whole exome sequencing | Diabetes mellitus | GENOTYPE-PHENOTYPE CORRELATIONS | VARIANTS | DISEASE | ENDOCRINOLOGY & METABOLISM | ALSTROM | Brief Report | 내과학
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, diabetes, and... 
BBS1 | Ciliopathy | Whole exome sequencing | Diabetes mellitus | ALMS1 | Alstrom syndrome | Bardet-Biedl syndrome | Sanger sequencing | Next generation sequencing
Journal Article
Scientific Reports, ISSN 2045-2322, 2016, Volume 6, Issue 1, p. 34764
Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder that is both genetically and clinically heterogeneous. To date 19 genes have been associated... 
HOMOZYGOSITY | MESSENGER-RNA | NONSENSE-MEDIATED DECAY | MULTIDISCIPLINARY SCIENCES | COHORT | CONSANGUINITY | PREVALENCE | BBS1 MUTATIONS | TRANSLATION | MOLECULAR-BASIS | TRIALLELIC INHERITANCE | Genetic counseling | Nephronophthisis | Genes | Bardet-Biedl syndrome | Mutation | Siblings | Hereditary diseases
Journal Article
PLoS ONE, ISSN 1932-6203, 09/2015, Volume 10, Issue 9, p. e0136317
Journal Article
SCIENTIFIC REPORTS, ISSN 2045-2322, 09/2019, Volume 9, Issue 1, pp. 1 - 12
The multiple genetic approaches available for molecular diagnosis of human diseases have made possible to identify an increasing number of pathogenic genetic... 
KUPFFERS VESICLE | BBS1 | COMPLEX | DISRUPTION | MULTIDISCIPLINARY SCIENCES | SYNDROME PROTEINS | SYNDROME GENES | MUTATIONS | CILIA | IDENTIFICATION | REQUIREMENT | Pathogenicity | Animal models | Phenotypes | Next-generation sequencing | Bardet-Biedl syndrome | Embryos | Cilia
Journal Article