| scholarly article | Q13442814 |
| P50 | author | Arnold Munnich | Q2863363 |
| Sylvie Gerber | Q28354277 | ||
| Isabelle Perrault | Q28354288 | ||
| Hélène Dollfus | Q28354315 | ||
| Jean-michel Rozet | Q43156966 | ||
| Josseline Kaplan | Q56839160 | ||
| Olivier Roche | Q58460927 | ||
| Jean-Louis Dufier | Q93414797 | ||
| Sylvain Hanein | Q114410082 | ||
| Nathalie Delphin | Q117252664 | ||
| P2093 | author name string | Elisa Fazzi | |
| Sabine Defoort-Dhellemmes | |||
| P433 | issue | 4 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | phenotype | Q104053 |
| congenital disorder | Q727096 | ||
| Leber congenital amaurosis | Q1811132 | ||
| P304 | page(s) | 416 | |
| P577 | publication date | 2007-04-01 | |
| P1433 | published in | Human Mutation | Q5937269 |
| P1476 | title | Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype | |
| P478 | volume | 28 |
| Q38614402 | A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290. |
| Q47706146 | A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies |
| Q64947069 | AON-Mediated Exon Skipping to Bypass Protein Truncation in Retinal Dystrophies Due to the Recurrent CEP290 c.4723A > T Mutation. Fact or Fiction? |
| Q36077787 | AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation |
| Q39480239 | Antisense Oligonucleotide (AON)-based Therapy for Leber Congenital Amaurosis Caused by a Frequent Mutation in CEP290. |
| Q38596893 | Antisense Oligonucleotide Therapy for Inherited Retinal Dystrophies. |
| Q55139997 | Antisense Oligonucleotide-Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655A>G Mutation in CEP290. |
| Q41573701 | Basal exon skipping and genetic pleiotropy: A predictive model of disease pathogenesis |
| Q37267051 | CCT2 Mutations Evoke Leber Congenital Amaurosis due to Chaperone Complex Instability |
| Q42051635 | CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype. |
| Q24676633 | CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders |
| Q37778326 | CEP290, a gene with many faces: mutation overview and presentation of CEP290base. |
| Q40369908 | CRISPR/Cas9-Mediated Genome Editing as a Therapeutic Approach for Leber Congenital Amaurosis 10. |
| Q50253057 | Central retinal preservation in rdAc cats |
| Q28305398 | Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis |
| Q34626170 | Ciliopathies: an expanding disease spectrum |
| Q36079288 | Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population |
| Q33514006 | Clinical and molecular features of Joubert syndrome and related disorders |
| Q52339934 | Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies. |
| Q35740765 | Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort |
| Q28270488 | Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark |
| Q37598116 | Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing |
| Q30498337 | Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy |
| Q92301757 | Description of Two Siblings with Apparently Severe CEP290 Mutations and Unusually Mild Retinal Disease Unrelated to Basal Exon Skipping or Nonsense-Associated Altered Splicing |
| Q33908247 | Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis |
| Q90744654 | Deubiquitylase USP9X maintains centriolar satellite integrity by stabilizing pericentriolar material 1 protein |
| Q41666825 | Diagnostic application of clinical exome sequencing in Leber congenital amaurosis |
| Q24617850 | Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration |
| Q35648444 | Exome capture sequencing identifies a novel mutation in BBS4 |
| Q56771011 | Expanding CEP290 mutational spectrum in ciliopathies |
| Q38660557 | From disease modelling to personalised therapy in patients with CEP290 mutations |
| Q36252686 | Full-Field Pupillary Light Responses, Luminance Thresholds, and Light Discomfort Thresholds in CEP290 Leber Congenital Amaurosis Patients |
| Q54977409 | Gene therapy and genome surgery in the retina. |
| Q39429623 | Genes and molecular pathways underpinning ciliopathies |
| Q48675141 | Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay |
| Q28118065 | Genetic and physical interaction between the NPHP5 and NPHP6 gene products |
| Q38511788 | Genetic modifiers and oligogenic inheritance |
| Q42648973 | Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes |
| Q33944376 | Genomic approaches for the discovery of genes mutated in inherited retinal degeneration |
| Q55000684 | Guiding Lights in Genome Editing for Inherited Retinal Disorders: Implications for Gene and Cell Therapy. |
| Q36023714 | Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons |
| Q36277070 | Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy |
| Q39829369 | In vitro and in vivo rescue of aberrant splicing in CEP290-associated LCA by antisense oligonucleotide delivery |
| Q37621868 | In vivo versus ex vivo CRISPR therapies for retinal dystrophy |
| Q40588004 | Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal Cells |
| Q27319191 | Investigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndrome |
| Q41362538 | In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations. |
| Q33580854 | Joubert syndrome: insights into brain development, cilium biology, and complex disease |
| Q49864627 | Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye. |
| Q90152961 | Leber Congenital Amaurosis (LCA): Potential for Improvement of Vision |
| Q49344878 | Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies |
| Q38558467 | Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee |
| Q39423311 | Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions |
| Q45880092 | Leber congenital amaurosis: from darkness to spotlight |
| Q33919616 | Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis |
| Q36463209 | Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing |
| Q37552382 | Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy |
| Q43232430 | Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome |
| Q85014358 | Mutation spectrum and frequency of the RHO gene in 248 Chinese families with retinitis pigmentosa |
| Q28271973 | Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy |
| Q57908821 | Mutations of theCEP290gene encoding a centrosomal protein cause Meckel-Gruber syndrome |
| Q36371056 | NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa. |
| Q34793373 | Nephronophthisis. |
| Q37049729 | Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies. |
| Q60302584 | Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa |
| Q35178896 | Novel homozygous large deletion including the 5' part of the SPATA7 gene in a consanguineous Israeli Muslim Arab family |
| Q37235164 | Novel progranulin mutations with reduced serum-progranulin levels in frontotemporal lobar degeneration |
| Q35768517 | Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290. |
| Q39176551 | Photoreceptor Cilia and Retinal Ciliopathies |
| Q34636894 | Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome |
| Q36762773 | Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis |
| Q36299499 | RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction |
| Q36496174 | Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: insights into X-linked Retinitis Pigmentosa and associated ciliopathies |
| Q54310386 | Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features. |
| Q35050757 | Review and update on the molecular basis of Leber congenital amaurosis |
| Q42370401 | Stem cells with a view: a look inside a retinal ciliopathy |
| Q52594137 | Systematic evaluation of a targeted gene capture sequencing panel for molecular diagnosis of retinitis pigmentosa. |
| Q30499095 | The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness. |
| Q47110206 | The genetic profile of Leber congenital amaurosis in an Australian cohort |
| Q92869060 | The identification of a RNA splice variant in TULP1 in two siblings with early-onset photoreceptor dystrophy |
| Q89844598 | Transient pupillary light reflex in CEP290- or NPHP5-associated Leber congenital amaurosis: Latency as a potential outcome measure of cone function |
| Q48777180 | Two novel mutations in the C-terminal region of centrosomal protein 290 (CEP290) result in classic Joubert syndrome |
| Q35040273 | Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis. |
| Q34544487 | Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype |
| Q42370397 | Unraveling the mysteries of pre-mRNA splicing in the retina via stem cell technology |
| Q37623694 | Unravelling the genetic basis of simplex Retinitis Pigmentosa cases |
| Q40091708 | Unusual retinopathy in a child with severe combined immune deficiency. |
| Q48594838 | Using CRISPR-Cas9 to Generate Gene-Corrected Autologous iPSCs for the Treatment of Inherited Retinal Degeneration |
| Q36944797 | Visual acuity changes in patients with leber congenital amaurosis and mutations in CEP290 |
| Q38970287 | Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies |
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