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1. Full Text Bardet-Biedl syndrome
by Forsythe, Elizabeth and Beales, Philip L
European Journal of Human Genetics, ISSN 1018-4813, 01/2013, Volume 21, Issue 1, pp. 8 - 13
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterised by retinal dystrophy, obesity, post-axial polydactyly, renal dysfunction,... 
Bardet-Biedl syndrome | autosomal recessive inheritance | BBS genes | ciliopathies | BIOCHEMISTRY & MOLECULAR BIOLOGY | PHENOTYPE | TRIALLELIC INHERITANCE | PRIMARY CILIUM | OBESITY | GENE | DISEASE | GENETICS & HEREDITY | SYNDROME PROTEINS | MUTATIONS | RETINITIS-PIGMENTOSA | Genetic Association Studies | Microtubule-Associated Proteins - genetics | Humans | Bardet-Biedl Syndrome - therapy | Bardet-Biedl Syndrome - etiology | Genetic Counseling | Genetic Testing - methods | Proteins - genetics | Group II Chaperonins - genetics | Bardet-Biedl Syndrome - diagnosis | Bardet-Biedl Syndrome - epidemiology | Bardet-Biedl Syndrome - genetics | Mutation | Obesity | Renal function | Childrens health | Retina | Biosynthesis | Management | Hypogonadism | Proteins | Genotype & phenotype | Ultrasonic imaging | Blindness | Polydactyly | Retinal degeneration | Genetics | Evolution | Photoreceptors | Birth weight | Dystrophy | Diagnosis | Genetic counselling | University colleges | Cilia | Index Medicus | retinal degeneration | Basal bodies | Learning | Reviews | Practical Genetics | Bardet–Biedl syndrome
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2. Full Text Genetic predictors of cardiovascular morbidity in Bardet–Biedl syndrome
by Forsythe, E and Sparks, K and Hoskins, B.E and Bagkeris, E and McGowan, B.M and Carroll, P.V and Huda, M.S.B and Mujahid, S and Peters, C and Barrett, T and Mohammed, S and Beales, P.L
Clinical Genetics, ISSN 0009-9163, 04/2015, Volume 87, Issue 4, pp. 343 - 349
Bardet–Biedl syndrome is a rare ciliopathy characterized by retinal dystrophy, obesity, intellectual disability, polydactyly, hypogonadism and renal... 
genotype–phenotype correlation | cardiovascular morbidity | mutation type | Bardet–Biedl syndrome | Bardet-Biedl syndrome | Genotype-phenotype correlation | Cardiovascular morbidity | Mutation type | genotype-phenotype correlation | DISEASE | GENETICS & HEREDITY | COHORT | C-Peptide - blood | Microtubule-Associated Proteins - genetics | Humans | Risk Factors | gamma-Glutamylcyclotransferase - blood | Mutation - genetics | Cardiovascular Diseases - genetics | Genetic Testing - methods | Group II Chaperonins - genetics | Phenotype | Statistics, Nonparametric | Triglycerides - blood | Bardet-Biedl Syndrome - genetics | Analysis | Cardiac patients | Morbidity | Cardiovascular disease | Genetic disorders | Mutation | Risk factors | Index Medicus | Short Reports
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3. Full Text Oligogenic basis of isolated gonadotropin-releasing hormone deficiency
by Gerasimos P. Sykiotis and Lacey Plummer and Virginia A. Hughes and Margaret Au and Sadia Durrani and Sadhana Nayak-Young and Andrew A. Dwyer and Richard Quinton and Janet E. Hall and James F. Gusella and Stephanie B. Seminara and William F. Crowley and Nelly Pitteloud and Patricia K. Donahoe
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 8/2010, Volume 107, Issue 34, pp. 15140 - 15144
Between the genetic extremes of rare monogenic and common polygenic diseases lie diverse oligogenic disorders involving mutations in more than one locus in... 
Deficiency diseases | Sex hormones | Nervous system diseases | Disease models | Medical genetics | Genetic diseases | Genetic mutation | Kallmann syndrome | Human genetics | Hypogonadism | Rare variant | Digenic | Idiopathic hypogonadotropic hypogonadism | FGFR1 | idiopathic hypogonadotropic hypogonadism | GPR54 | MULTIDISCIPLINARY SCIENCES | CLINICAL HETEROGENEITY | MISSENSE MUTATIONS | PUBERTY | digenic | GENE | BARDET-BIEDL-SYNDROME | LINKED KALLMANN-SYNDROME | FIBROBLAST-GROWTH-FACTOR-RECEPTOR-1 | GNRH RECEPTOR | rare variant | Receptors, LHRH - genetics | Humans | Male | Gene Regulatory Networks | Receptor, Fibroblast Growth Factor, Type 1 - genetics | Case-Control Studies | Receptors, Peptide - genetics | Genetic Variation | DNA Mutational Analysis | Female | Neuropeptides - genetics | Fibroblast Growth Factor 8 - genetics | Kallmann Syndrome - genetics | Extracellular Matrix Proteins - genetics | Transcription Factors - genetics | Nerve Tissue Proteins - genetics | Hypogonadism - genetics | Homozygote | Phenotype | Pedigree | Gastrointestinal Hormones - genetics | Heterozygote | Models, Genetic | Receptors, G-Protein-Coupled - genetics | Mutation | Receptors, Kisspeptin-1 | Gonadotropin-Releasing Hormone - deficiency | Cohort Studies | Multifactorial diseases | Genetic aspects | Hormones | Gonadotropin | Health aspects | Pathogens | Genetics | Genetic disorders | Pathogenesis | Index Medicus | Biological Sciences
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4. Full Text Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
by Banin, Eyal and Badano, Jose L and Zaghloul, Norann A and Eyaid, Wafaa and Stoetzel, Corinne and Rix, Suzanne and Diaz-Font, Anna and Beales, Philip L and Katsanis, Nicholas and Alfadhel, Majid and Dollfus, Helene and Leitch, Carmen C and Davis, Erica E and Lewis, Richard Alan
Nature Genetics, ISSN 1061-4036, 04/2008, Volume 40, Issue 4, pp. 443 - 448
Meckel-Gruber syndrome (MKS) is a genetically heterogeneous, neonatally lethal malformation and the most common form of syndromic neural tube defect (NTD). To... 
JOUBERT-SYNDROME | DISRUPTION | DISSECTION | CILIUM | BBS LOCUS | GENETICS & HEREDITY | MKS3 | RPGRIP1L | MECKEL-GRUBER-SYNDROME | BASAL BODY PROTEIN | Embryo, Nonmammalian - cytology | Alternative Splicing | Humans | Embryo, Nonmammalian - metabolism | Child, Preschool | Molecular Sequence Data | Male | DNA Mutational Analysis | Bardet-Biedl Syndrome - pathology | Adult | Bardet-Biedl Syndrome - genetics | Female | Neoplasm Proteins - genetics | Child | Encephalocele - genetics | Amino Acid Sequence | Antigens, Neoplasm - genetics | Gastrulation | Membrane Proteins - genetics | Mutation - genetics | Zebrafish - growth & development | Syndrome | Zebrafish - genetics | Pregnancy | Proteins - genetics | Sequence Homology, Amino Acid | Homozygote | Animals | Pedigree | Zebrafish - metabolism | Usage | Gene mutations | Bardet-Biedl syndrome | Genetic aspects | Research | In situ hybridization | Health aspects | Risk factors | Proteins | Birth defects | Genetic disorders | Mutation | Molecular biology | Index Medicus | Life Sciences | Bardet-Biedl Syndrome | Neoplasm Proteins | Genetics | Antigens, Neoplasm | Zebrafish | Membrane Proteins | Encephalocele | Embryo, Nonmammalian | Human genetics
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5. Full Text Differential effects on β-cell mass by disruption of Bardet-Biedl syndrome or Alstrom syndrome genes
by Lodh, Sukanya and Hostelley, Timothy L and Leitch, Carmen C and O'Hare, Elizabeth A and Zaghloul, Norann A
Human Molecular Genetics, ISSN 0964-6906, 01/2016, Volume 25, Issue 1, pp. 57 - 68
Rare genetic syndromes characterized by early-onset type 2 diabetes have revealed the importance of pancreatic beta-cells in genetic susceptibility to... 
PANCREAS DEVELOPMENT | CILIOPATHIES | APPEARANCE | GENETICS | BIOCHEMISTRY & MOLECULAR BIOLOGY | ENDOCRINE | DISEASE | GENETICS & HEREDITY | ISLET | HORMONE-EXPRESSING CELLS | ZEBRAFISH PANCREAS | PRIMARY-CILIUM | Cell Proliferation | Microtubule-Associated Proteins - genetics | Morpholinos - genetics | Zebrafish | Glucose | Animals | Cell Death | Hyperglycemia - pathology | Alstrom Syndrome - genetics | Bardet-Biedl Syndrome - genetics | Insulin-Secreting Cells - pathology | Zebrafish Proteins - genetics | Disease Models, Animal | Index Medicus
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6. Full Text Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19
by Bredrup, Cecilie and Saunier, Sophie and Oud, Machteld M and Fiskerstrand, Torunn and Hoischen, Alexander and Brackman, Damien and Leh, Sabine M and Midtbø, Marit and Filhol, Emilie and Bole-Feysot, Christine and Nitschké, Patrick and Gilissen, Christian and Haugen, Olav H and Sanders, Jan-Stephan F and Stolte-Dijkstra, Irene and Mans, Dorus A and Steenbergen, Eric J and Hamel, Ben C.J and Matignon, Marie and Pfundt, Rolph and Jeanpierre, Cécile and Boman, Helge and Rødahl, Eyvind and Veltman, Joris A and Knappskog, Per M and Knoers, Nine V.A.M and Roepman, Ronald and Arts, Heleen H
The American Journal of Human Genetics, ISSN 0002-9297, 11/2011, Volume 89, Issue 5, pp. 634 - 643
A subset of ciliopathies, including Sensenbrenner, Jeune, and short-rib polydactyly syndromes are characterized by skeletal anomalies accompanied by multiorgan... 
DEFECTS | PROTEIN | CRANIOECTODERMAL DYSPLASIA | SENSENBRENNER-SYNDROME | GENETICS & HEREDITY | BARDET-BIEDL-SYNDROME | NEPHRONOPHTHISIS | RIB-POLYDACTYLY SYNDROME | ASPHYXIATING THORACIC DYSTROPHY | INTRAFLAGELLAR TRANSPORT | PRIMARY CILIA | Polycystic Kidney Diseases - genetics | Oligonucleotide Array Sequence Analysis | Humans | Molecular Sequence Data | Male | Mutation, Missense | Young Adult | Netherlands | Morocco | Adult | Female | Flagella - genetics | Child | Craniofacial Abnormalities - genetics | Fibroblasts - metabolism | Polycystic Kidney Diseases - congenital | Cilia - pathology | Short Rib-Polydactyly Syndrome - genetics | Cilia - genetics | Proteins - genetics | Exome - genetics | Flagella - pathology | Norway | Pedigree | Adolescent | Thoracic Diseases - genetics | Ectodermal Dysplasia - genetics | Genetic disorders | Mutation | Gene expression | Morphology | Cells | Index Medicus | Renal insufficiency | Missense mutation | Nephronophthisis | Nephropathy | Retinitis pigmentosa | Polydactyly | Renal failure | Fibroblasts | Abundance | Cilia | Jeune syndrome | Report
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7. Full Text Homozygosity Mapping with SNP Arrays Identifies TRIM32, an E3 Ubiquitin Ligase, as a Bardet-Biedl Syndrome Gene (BBS11)
by Annie P. Chiang and John S. Beck and Hsan-Jan Yen and Marwan K. Tayeh and Todd E. Scheetz and Ruth E. Swiderski and Darryl Y. Nishimura and Terry A. Braun and Kwang-Youn A. Kim and Jian Huang and Khalil Elbedour and Rivka Carmi and Diane C. Slusarski and Thomas L. Casavant and Edwin M. Stone and Val C. Sheffield
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 4/2006, Volume 103, Issue 16, pp. 6287 - 6292
The identification of mutations in genes that cause human diseases has largely been accomplished through the use of positional cloning, which relies on linkage... 
Proteins | Phenotypes | Messenger RNA | Melanosomes | Genes | Alleles | Genetic loci | Genetic mutation | Embryos | Genetic screening | Genetic mapping | Obesity | Zebrafish model | SNP genotyping | FAMILIAL PARTIAL LIPODYSTROPHY | MULTIDISCIPLINARY SCIENCES | HUMAN OBESITY SYNDROME | CHROMOSOME 16Q | zebrafish model | GIRDLE MUSCULAR-DYSTROPHY | genetic mapping | PROTEIN-DEGRADATION | PROTEASOME | MICE | LAMIN A/C | MUTATIONS | EXPRESSION | obesity | Oligonucleotide Array Sequence Analysis | Humans | Zebrafish | Chromosome Mapping | Transcription Factors - genetics | Tripartite Motif Proteins | Transcription Factors - metabolism | Homozygote | Animals | DNA Mutational Analysis | Bardet-Biedl Syndrome - genetics | Polymorphism, Single Nucleotide | Mutation | Zebrafish Proteins - genetics | Genome, Human | Ubiquitin-Protein Ligases - genetics | Chromosome mapping | Genetic aspects | Research | Single nucleotide polymorphisms | Enzymes | Genotype & phenotype | Genetic disorders | Arrays | Gene expression | Index Medicus | Biological Sciences
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8. Full Text Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome
by Lindstrand, Anna and Frangakis, Stephan and Carvalho, Claudia M.B and Richardson, Ellen B and McFadden, Kelsey A and Willer, Jason R and Pehlivan, Davut and Liu, Pengfei and Pediaditakis, Igor L and Sabo, Aniko and Lewis, Richard Alan and Banin, Eyal and Lupski, James R and Davis, Erica E and Katsanis, Nicholas
The American Journal of Human Genetics, ISSN 0002-9297, 08/2016, Volume 99, Issue 2, pp. 318 - 336
Bardet-Biedl syndrome (BBS) is a defining ciliopathy, notable for extensive allelic and genetic heterogeneity, almost all of which has been identified through... 
zebrafish model | oligogenic disease | mechanism of rearrangements | ciliopathy | RETINAL DEGENERATION | ALLELES | GENE | COMPLEX REARRANGEMENTS | GENOMIC DISORDERS | HIGH-RISK | GENETICS & HEREDITY | NPHP1 LOCUS | IDENTIFICATION | STRUCTURAL FEATURES | CENTROSOMAL PROTEIN | Cytoskeletal Proteins - genetics | Chromosome Breakpoints | Humans | Child, Preschool | Infant | Male | Zebrafish - embryology | Young Adult | Gastrulation - genetics | Adult | Bardet-Biedl Syndrome - genetics | Cytoskeletal Proteins - metabolism | Female | Child | Zebrafish Proteins - metabolism | Exons - genetics | DNA Copy Number Variations - genetics | Genes, Recessive | Zebrafish - genetics | Animals | Pedigree | Adolescent | Alleles | Mutation | Zebrafish Proteins - genetics | Bardet-Biedl syndrome | Genetic aspects | Gene mutations | Genetic variation | Health aspects | Hybridization | Comparative analysis | Genes | Genomics | Index Medicus
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9. Full Text Dissection of epistasis in oligogenic Bardet-Biedl syndrome
by Fisher, Shannon and Ansley, Stephen J and Lewis, Richard Alan and Katsanis, Nicholas and Beales, Philip L and Lawson, Shaneka and Leitch, Carmen C and Badano, Jose L and Dietz, Harry C and May-Simera, Helen
Nature, ISSN 0028-0836, 01/2006, Volume 439, Issue 7074, pp. 326 - 330
Epistatic interactions have an important role in phenotypic variability, yet the genetic dissection of such phenomena remains challenging. Here we report the... 
BBS1 | PROTEIN | MULTIDISCIPLINARY SCIENCES | HUMAN OBESITY SYNDROME | HUMAN GENETIC-DISEASE | MUTATIONS | IDENTIFICATION | TRIALLELIC INHERITANCE | Humans | Male | RNA, Messenger - metabolism | Zebrafish - embryology | Base Sequence | Cell Cycle Proteins - genetics | Bardet-Biedl Syndrome - genetics | Female | Cell Line | Multifactorial Inheritance - genetics | RNA Splice Sites - genetics | Alternative Splicing - genetics | RNA, Messenger - genetics | Cell Cycle Proteins - metabolism | Microtubule-Associated Proteins | Exons - genetics | Mutation - genetics | Zebrafish - genetics | Linkage Disequilibrium | Proteins - genetics | Phenotype | Animals | Proteins - metabolism | Epistasis, Genetic | Pedigree | Alleles | Protein Binding | Heterozygote | Index Medicus
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10. Full Text TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone
by Huang, Lijia and Szymanska, Katarzyna and Jensen, Victor L and Janecke, Andreas R and Innes, A. Micheil and Davis, Erica E and Frosk, Patrick and Li, Chunmei and Willer, Jason R and Chodirker, Bernard N and Greenberg, Cheryl R and McLeod, D. Ross and Bernier, Francois P and Chudley, Albert E and Müller, Thomas and Shboul, Mohammad and Logan, Clare V and Loucks, Catrina M and Beaulieu, Chandree L and Bowie, Rachel V and Bell, Sandra M and Adkins, Jonathan and Zuniga, Freddi I and Ross, Kevin D and Wang, Jian and Ban, Matthew R and Becker, Christian and Nürnberg, Peter and Douglas, Stuart and Craft, Cheryl M and Akimenko, Marie-Andree and Hegele, Robert A and Ober, Carole and Utermann, Gerd and Bolz, Hanno J and Bulman, Dennis E and Katsanis, Nicholas and Blacque, Oliver E and Doherty, Dan and Parboosingh, Jillian S and Leroux, Michel R and Johnson, Colin A and Boycott, Kym M
The American Journal of Human Genetics, ISSN 0002-9297, 12/2011, Volume 89, Issue 6, pp. 713 - 730
Joubert syndrome related disorders (JSRDs) have broad but variable phenotypic overlap with other ciliopathies. The molecular etiology of this overlap is... 
DISEASE GENES | CAENORHABDITIS-ELEGANS | GENETICS & HEREDITY | BARDET-BIEDL-SYNDROME | PLANAR CELL POLARITY | OCULO-RENAL SYNDROME | ACTIN CYTOSKELETON | MUTATIONS | CENTROSOMAL PROTEIN | MECKEL-GRUBER-SYNDROME | BASAL BODY PROTEIN | Haplotypes | Humans | Child, Preschool | Infant | Male | Cerebellum - abnormalities | Wnt Proteins - metabolism | Zebrafish - embryology | Case-Control Studies | Gene Knockdown Techniques | Multiprotein Complexes - metabolism | Kidney Diseases, Cystic - genetics | Adult | Bardet-Biedl Syndrome - genetics | Female | Membrane Proteins - metabolism | Child | Infant, Newborn | Wnt Signaling Pathway | Cell Line | Microscopy, Electron, Transmission | Gene Expression | Genetic Association Studies | Caenorhabditis elegans - genetics | Membrane Proteins - genetics | Abnormalities, Multiple | Chromosome Mapping | Eye Abnormalities - genetics | Gene Knockout Techniques | Sequence Analysis, DNA | Cilia - metabolism | Zebrafish - genetics | Cilia - genetics | Caenorhabditis elegans - ultrastructure | Animals | Cerebellar Diseases - genetics | Retina - abnormalities | Mice | Polymorphism, Single Nucleotide | Mutation | Chromosome mapping | Usage | Gene mutations | Cilia and ciliary motion | Joubert syndrome | Physiological aspects | Causes of | Genetic aspects | Research | Nucleotide sequencing | Methods | DNA sequencing | Index Medicus | Brain | Gastrulation | Wnt protein | Congenital defects | Etiology | Mapping | Neurodevelopmental disorders | Cilia
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