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The American Journal of Human Genetics, ISSN 0002-9297, 11/2013, Volume 93, Issue 5, pp. 915 - 925
Intraflagellar transport (IFT) depends on two evolutionarily conserved modules, subcomplexes A (IFT-A) and B (IFT-B), to drive ciliary assembly and... 
VAN-CREVELD-SYNDROME | DYNC2H1 MUTATIONS | GENE | DISEASE | GENETICS & HEREDITY | CILIOPATHY | RIB-POLYDACTYLY SYNDROME | CILIA | KIDNEY | ASPHYXIATING THORACIC DYSTROPHY | INTRAFLAGELLAR TRANSPORT PROTEIN | Bone and Bones - pathology | Humans | Asian Continental Ancestry Group - genetics | Molecular Sequence Data | Male | Intracellular Signaling Peptides and Proteins - metabolism | Ellis-Van Creveld Syndrome - genetics | Ellis-Van Creveld Syndrome - pathology | Gene Knockdown Techniques | Bone and Bones - metabolism | Kidney Diseases, Cystic - genetics | Ectodermal Dysplasia - pathology | Female | Intracellular Signaling Peptides and Proteins - genetics | Cytoplasmic Dyneins - metabolism | Dyneins - metabolism | Amino Acid Sequence | European Continental Ancestry Group - genetics | Craniosynostoses - genetics | Cytoplasmic Dyneins - genetics | Retinitis Pigmentosa - genetics | Cerebellar Ataxia - pathology | Fibroblasts - pathology | Zebrafish - genetics | Kidney Diseases, Cystic - pathology | Phenotype | Animals | Cerebellar Ataxia - genetics | Epistasis, Genetic | Alleles | Ectodermal Dysplasia - genetics | Dyneins - genetics | Mutation | Bone and Bones - abnormalities | Retinitis Pigmentosa - pathology | Craniosynostoses - pathology | Physiological aspects | Ciliata | Genetic aspects | Research | Gene expression | Biological transport, Active | Proteins | Genotype & phenotype | Zebrafish | Index Medicus | Report
Journal Article
PLoS Genetics, ISSN 1553-7390, 07/2017, Volume 13, Issue 7, pp. e1006936 - e1006936
Mutations in BBS6 cause two clinically distinct syndromes, Bardet-Biedl syndrome (BBS), a syndrome caused by defects in cilia transport and function, as well... 
ZEBRAFISH EMBRYOS | KUPFFERS VESICLE | MCKUSICK-KAUFMAN-SYNDROME | SWI/SNF COMPLEX | PORE COMPLEX | GENETICS & HEREDITY | BARDET-BIEDL-SYNDROME | SYNDROME GENES | MUTATIONS | BETA-CATENIN | MOUSE EMBRYO | Abnormalities, Multiple - metabolism | Abnormalities, Multiple - pathology | Uterine Diseases - metabolism | Bardet-Biedl Syndrome - metabolism | Humans | Uterine Diseases - pathology | Chromatin Assembly and Disassembly - genetics | Cytoplasm - metabolism | Polydactyly - metabolism | Group II Chaperonins - genetics | Heart Defects, Congenital - genetics | Hydrocolpos - genetics | Bardet-Biedl Syndrome - pathology | Bardet-Biedl Syndrome - genetics | Hydrocolpos - pathology | Active Transport, Cell Nucleus - genetics | Abnormalities, Multiple - genetics | Disease Models, Animal | Cilia - pathology | Polydactyly - genetics | Heart Defects, Congenital - pathology | Hydrocolpos - metabolism | Transcription Factors - biosynthesis | Transcription Factors - genetics | Cilia - metabolism | Protein Transport - genetics | Zebrafish - genetics | Animals | Animals, Genetically Modified - genetics | Uterine Diseases - genetics | Heart Defects, Congenital - metabolism | Mice | Mutation | Chromatin - genetics | Polydactyly - pathology | Chromatin | Bardet-Biedl syndrome | Genetic aspects | Gene mutations | Health aspects | Heart | Pediatrics | Profiling | Transcription | Funding | Retinitis pigmentosa | Disorders | Transgenic | Cardiovascular disease | Biology | Remodeling | Nuclei | Defects | Proteins | Localization | Heart diseases | Cilia | Genetic disorders | Congenital diseases | Zebrafish | Roles | Gene expression | Patients | Coronary artery disease | Chromatin remodeling | Medicine | Alleles | McKusick-Kaufman syndrome | Genetic engineering | Retinitis | Transport | Position (location) | Cytoplasm | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2011, Volume 89, Issue 5, pp. 634 - 643
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2013, Volume 93, Issue 5, pp. 932 - 944
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2011, Volume 89, Issue 1, pp. 94 - 110
Journal Article
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2005, Volume 76, Issue 4, pp. 609 - 622
Journal Article
Journal Article