| scholarly article | Q13442814 |
| P2093 | author name string | Philip L Beales | |
| Elizabeth Forsythe | |||
| Chiara Bacchelli | |||
| Joanna Kenny | |||
| P2860 | cites work | Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling | Q24317488 |
| Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study | Q24622509 | ||
| BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance | Q24632540 | ||
| New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey | Q24681777 | ||
| Patient-Specific iPSC-Derived RPE for Modeling of Retinal Diseases | Q26799586 | ||
| Smelling the roses and seeing the light: gene therapy for ciliopathies | Q26829936 | ||
| Therapeutic benefit observed with the CFTR potentiator, ivacaftor, in a CF patient homozygous for the W1282X CFTR nonsense mutation. | Q50485119 | ||
| C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies | Q50535243 | ||
| PTC124-mediated translational readthrough of a nonsense mutation causing Usher syndrome type 1C. | Q50548699 | ||
| Identification of the amino acids inserted during suppression of CFTR nonsense mutations and determination of their functional consequences | Q50605358 | ||
| Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome. | Q53210390 | ||
| High incidence of Bardet Biedl syndrome among the Bedouin. | Q55059076 | ||
| Bardet–Biedl syndrome highlights the major role of the primary cilium in efficient water reabsorption | Q56908079 | ||
| Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort | Q57387354 | ||
| The importance of renal impairment in the natural history of Bardet-Biedl syndrome | Q71126170 | ||
| Genotype-phenotype correlations in Bardet-Biedl syndrome | Q83629691 | ||
| Roux-en-Y gastric bypass in an adolescent patient with Bardet-Biedl syndrome, a monogenic obesity disorder | Q84763533 | ||
| Adjustable gastric banding and sleeve gastrectomy in Bardet-Biedl syndrome | Q87459014 | ||
| The Spectrum of Renal Disease in Laurence–Moon–Biedl Syndrome | Q38535122 | ||
| Renal involvement in the Laurence-Moon-Bardet-Biedl syndrome. Apropos of 3 cases | Q38536427 | ||
| Renal abnormalities in the Bardet-Biedl syndrome. | Q38536945 | ||
| Reporting practices for variants of uncertain significance from next generation sequencing technologies | Q38642521 | ||
| Discovery of Clinically Approved Agents That Promote Suppression of Cystic Fibrosis Transmembrane Conductance Regulator Nonsense Mutations. | Q38735278 | ||
| CRISPR/Cas9-mediated somatic and germline gene correction to restore hemostasis in hemophilia B mice. | Q38784208 | ||
| Gene editing of DNAH11 restores normal cilia motility in primary ciliary dyskinesia | Q38806595 | ||
| Gene Therapeutic Reversal of Peripheral Olfactory Impairment in Bardet-Biedl Syndrome. | Q38941931 | ||
| Non-invasive sources of cells with primary cilia from pediatric and adult patients | Q39000496 | ||
| Motile and non-motile cilia in human pathology: from function to phenotypes | Q39012190 | ||
| Mechanism and evidence of nonsense suppression therapy for genetic eye disorders | Q39074783 | ||
| Advances in the Treatment of Duchenne Muscular Dystrophy: New and Emerging Pharmacotherapies | Q39115626 | ||
| In vitro and in vivo rescue of aberrant splicing in CEP290-associated LCA by antisense oligonucleotide delivery | Q39829369 | ||
| Restoration of renal function in zebrafish models of ciliopathies | Q39852315 | ||
| Therapeutic Gene Editing Safety and Specificity. | Q40045823 | ||
| Gene Therapy Using a miniCEP290 Fragment Delays Photoreceptor Degeneration in a Mouse Model of Leber Congenital Amaurosis | Q40134387 | ||
| Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome | Q40569171 | ||
| In search of triallelism in Bardet-Biedl syndrome | Q42275110 | ||
| BBS10 mutations are common in 'Meckel'-type cystic kidneys | Q42921863 | ||
| Correction of a pathogenic gene mutation in human embryos | Q45370513 | ||
| Gene therapy for RPE65-mediated inherited retinal dystrophy completes phase 3. | Q45869784 | ||
| Gene therapy for inherited retinal and optic nerve degenerations. | Q45873452 | ||
| Molecular genetics and emerging therapies for retinitis pigmentosa: Basic research and clinical perspectives | Q45873913 | ||
| The suppression of premature termination codons and the repair of splicing mutations in CFTR. | Q47412866 | ||
| Public trust and 'ethics review' as a commodity: the case of Genomics England Limited and the UK's 100,000 genomes project. | Q47633296 | ||
| A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies | Q47706146 | ||
| Data, data everywhere: the challenges of personalised medicine | Q47818354 | ||
| Pharmacogenomics: Precision Medicine and Drug Response | Q47860317 | ||
| Design and In Vitro Use of Antisense Oligonucleotides to Correct Pre-mRNA Splicing Defects in Inherited Retinal Dystrophies | Q47943340 | ||
| Induction of pluripotent stem cells from adult human fibroblasts by defined factors | Q27860967 | ||
| Individualized medicine from prewomb to tomb | Q29525070 | ||
| Efficient and rapid generation of induced pluripotent stem cells from human keratinocytes | Q29614341 | ||
| Aminoglycoside-stimulated readthrough of premature termination codons in selected genes involved in primary ciliary dyskinesia. | Q30820082 | ||
| Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data | Q30881351 | ||
| Multi-omics approaches to disease | Q33640903 | ||
| Reprogramming of human peripheral blood cells to induced pluripotent stem cells | Q34048915 | ||
| Systemic administration of PRO051 in Duchenne's muscular dystrophy | Q34172661 | ||
| Generation of human induced pluripotent stem cells from urine samples. | Q34310664 | ||
| Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells. | Q34442266 | ||
| Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort | Q34497248 | ||
| Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance | Q34617105 | ||
| Clinical characteristics and current therapies for inherited retinal degenerations | Q35045067 | ||
| Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy | Q35069526 | ||
| Screening for hormonal, monogenic, and syndromic disorders in obese infants and children | Q35206825 | ||
| Personalized therapeutic strategies for patients with retinitis pigmentosa | Q35225949 | ||
| Genetic predictors of cardiovascular morbidity in Bardet-Biedl syndrome. | Q35468768 | ||
| Characterization of Courtesy Stigma Perceived by Parents of Overweight Children with Bardet-Biedl Syndrome | Q35810288 | ||
| Long-term effect of gene therapy on Leber's congenital amaurosis | Q35836291 | ||
| Bardet-Biedl syndrome. | Q36466434 | ||
| Bardet-Biedl syndrome: beyond the cilium. | Q36759366 | ||
| An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: a phase 1, randomised, first-in-man study | Q37015657 | ||
| Subretinal gene therapy of mice with Bardet-Biedl syndrome type 1. | Q37167396 | ||
| Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21) | Q37368007 | ||
| Efficient in vivo gene editing using ribonucleoproteins in skin stem cells of recessive dystrophic epidermolysis bullosa mouse model | Q37658980 | ||
| Induced pluripotent stem cells for retinal degenerative diseases: a new perspective on the challenges | Q37678795 | ||
| Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney | Q37829931 | ||
| Pharmaceutical therapies to recode nonsense mutations in inherited diseases | Q38028238 | ||
| Non-syndromic retinal ciliopathies: translating gene discovery into therapy | Q38030482 | ||
| Retinal repair with induced pluripotent stem cells | Q38167541 | ||
| Stem cells for investigation and treatment of inherited retinal disease | Q38197508 | ||
| Patient-specific induced pluripotent stem cells (iPSCs) for the study and treatment of retinal degenerative diseases | Q38275478 | ||
| Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation | Q38290325 | ||
| P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
| P6216 | copyright status | copyrighted | Q50423863 |
| P921 | main subject | Bardet-Biedl syndrome | Q1678281 |
| future | Q344 | ||
| P304 | page(s) | 23 | |
| P577 | publication date | 2018-02-13 | |
| P1433 | published in | Frontiers in pediatrics | Q27725038 |
| P1476 | title | Managing Bardet–Biedl Syndrome—Now and in the Future | |
| P478 | volume | 6 |
| Q64103081 | A novel compound heterozygous mutation in identified in a Japanese patient |
| Q90170822 | A rare case of obesity. Can it be Bardet-Biedl Syndrome? |
| Q97643697 | Childhood obesity and the associated rise in cardiometabolic complications |
| Q90200042 | Combining Engineered U1 snRNA and Antisense Oligonucleotides to Improve the Treatment of a BBS1 Splice Site Mutation |
| Q91974026 | Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease |
| Q99584589 | Exploring Key Challenges of Understanding the Pathogenesis of Kidney Disease in Bardet-Biedl Syndrome |
| Q91702698 | Meta-analysis of genotype-phenotype associations in Bardet-Biedl syndrome uncovers differences among causative genes |
| Q92727150 | Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study |
| Q92328862 | Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet-Biedl and Usher Syndromes |
| Q90119046 | Second case of Bardet-Biedl syndrome caused by biallelic variants in IFT74 |
| Q53958309 | The Changing Landscape in the Genetic Etiology of Human Tooth Agenesis. |
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