| scholarly article | Q13442814 |
| P50 | author | Edwin M. Stone | Q37381855 |
| Samuel G. Jacobson | Q42410256 | ||
| Michael Pianta | Q44326843 | ||
| Val C. Sheffield | Q61268600 | ||
| Sharon Schwartz | Q86882273 | ||
| Artur V Cideciyan | Q90596707 | ||
| Alexander Sumaroka | Q116997512 | ||
| Elaine E Smilko | Q117235054 | ||
| Ann H Milam | Q117235057 | ||
| P2093 | author name string | Tomas S Aleman | |
| P433 | issue | 9 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 1073-8 | |
| P577 | publication date | 2003-05-01 | |
| P1433 | published in | Human Molecular Genetics | Q2720965 |
| P1476 | title | Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination | |
| P478 | volume | 12 |
| Q35999443 | A Meta-Analysis of Retinoblastoma Copy Numbers Refines the List of Possible Driver Genes Involved in Tumor Progression |
| Q24813359 | A hybrid photoreceptor expressing both rod and cone genes in a mouse model of enhanced S-cone syndrome. |
| Q35925194 | Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene |
| Q42033622 | Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration |
| Q34570948 | CDC42 is required for tissue lamination and cell survival in the mouse retina |
| Q28285691 | CRB1 mutation spectrum in inherited retinal dystrophies |
| Q35800472 | CRB1 mutations in inherited retinal dystrophies |
| Q92132549 | CRB1-Related Leber Congenital Amaurosis: Reporting Novel Pathogenic Variants and a Brief Review on Mutations Spectrum |
| Q38153736 | CRB1: one gene, many phenotypes |
| Q43515769 | CRB2 acts as a modifying factor of CRB1-related retinal dystrophies in mice |
| Q34902937 | CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein |
| Q37281392 | Case report: autofluorescence imaging and phenotypic variance in a sibling pair with early-onset retinal dystrophy due to defective CRB1 function. |
| 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 |
| Q50907366 | Childhood cone-rod dystrophy with macular cystic degeneration from recessive CRB1 mutation. |
| Q92267387 | Chromatic Full-Field Stimulus Threshold and Pupillography as Functional Markers for Late-Stage, Early-Onset Retinitis Pigmentosa Caused by CRB1 Mutations |
| Q80809587 | Crb1 is a determinant of retinal apical Müller glia cell features |
| Q36776705 | Defective Angiogenesis and Intraretinal Bleeding in Mouse Models With Disrupted Inner Retinal Lamination |
| Q37317693 | Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations |
| Q48353692 | Detailed electroretinographic findings in rd8 mice |
| Q36709692 | Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants |
| Q92301912 | ERG Alteration Due to the rd8 Mutation of the Crb1 Gene in Cln3 +/+ rd8-/rd8- Mice |
| Q38680672 | EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression |
| Q42410209 | Evidence for retinal remodelling in retinitis pigmentosa caused by PDE6B mutation |
| Q31061741 | Expansion of phenotype and genotypic data in CRB2-related syndrome |
| Q34699250 | FERM protein EPB41L5 is a novel member of the mammalian CRB-MPP5 polarity complex |
| Q36674599 | From vivarium to bedside: lessons learned from animal models. |
| Q35997586 | Genetic ablation of Pals1 in retinal progenitor cells models the retinal pathology of Leber congenital amaurosis. |
| Q28303876 | Genetic and clinical heterogeneity in LCA patients. The end of uniformity |
| Q46379155 | Genetics of retinitis pigmentosa: metabolic classification and phenotype/genotype correlations |
| Q44789107 | Hereditary retinochoroidal dystrophies. Part 1: Pathogenesis, diagnosis, therapy and patient counselling |
| Q54378323 | Homozygosity mapping identifies the Crumbs homologue 1 (Crb1) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos. |
| Q35221208 | Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse model |
| Q30480075 | Human cone photoreceptor dependence on RPE65 isomerase |
| Q58554380 | Human eye conditions: insights from the fly eye |
| Q33771032 | Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success |
| Q46842169 | Imaging and the perspective of clinical electrophysiology |
| Q44753954 | In utero gene therapy rescues vision in a murine model of congenital blindness |
| Q30856833 | In vivo dynamics of retinal injury and repair in the rhodopsin mutant dog model of human retinitis pigmentosa |
| Q35228749 | Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations |
| Q38214595 | Insights gained from gene therapy in animal models of retGC1 deficiency |
| Q37610044 | Intraretinal hyperreflective foci on spectral-domain optical coherence tomographic images of patients with retinitis pigmentosa |
| Q49056210 | Isolated maculopathy associated with biallelic CRB1 mutations |
| Q90152961 | Leber Congenital Amaurosis (LCA): Potential for Improvement of Vision |
| Q58377991 | Leber Congenital Amaurosis: Genotypes and Retinal Structure Phenotypes |
| Q39973030 | Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization. |
| Q38254324 | Leber congenital amaurosis caused by mutations in GUCY2D. |
| Q38558467 | Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee |
| Q38656663 | Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance. |
| Q34419190 | Loss of CRB2 in the mouse retina mimics human retinitis pigmentosa due to mutations in the CRB1 gene |
| Q37201018 | Loss of cone photoreceptors caused by chromophore depletion is partially prevented by the artificial chromophore pro-drug, 9-cis-retinyl acetate |
| Q39537977 | Mosaic Eyes is a novel component of the Crumbs complex and negatively regulates photoreceptor apical size |
| Q36828338 | Mthfr as a modifier of the retinal phenotype of Crb1(rd8/rd8) mice. |
| Q40539527 | Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence |
| Q55351376 | Nanophthalmos: A Review of the Clinical Spectrum and Genetics. |
| Q35048105 | Novel neuroprotective function of apical-basal polarity gene crumbs in amyloid beta 42 (aβ42) mediated neurodegeneration |
| Q85814393 | Novel nonsense and splice site mutations in CRB1 gene in two Japanese patients with early-onset retinal dystrophy |
| Q54185221 | Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants. |
| Q42119219 | Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations |
| Q37641855 | Postretinal Structure and Function in Severe Congenital Photoreceptor Blindness Caused by Mutations in the GUCY2D Gene. |
| Q41151515 | Presence of rd8 mutation does not alter the ocular phenotype of late-onset retinal degeneration mouse model |
| Q36173078 | RPGR-associated retinal degeneration in human X-linked RP and a murine model |
| Q44521176 | RPGRIP1s with distinct neuronal localization and biochemical properties associate selectively with RanBP2 in amacrine neurons |
| Q48889162 | Retinal Structure in Cobalamin C Disease: Mechanistic and Therapeutic Implications |
| Q50861904 | Retinal capillaritis in a CRB1-associated retinal dystrophy. |
| Q35687907 | Retinal disease course in Usher syndrome 1B due to MYO7A mutations |
| Q35229775 | Retinal laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutations |
| Q45886746 | Retinal optogenetic therapies: clinical criteria for candidacy |
| Q91646991 | Retinogenesis of the Human Fetal Retina: An Apical Polarity Perspective |
| Q35050757 | Review and update on the molecular basis of Leber congenital amaurosis |
| Q98158710 | Rod function deficit in retained photoreceptors of patients with class B Rhodopsin mutations |
| Q36086392 | TULP1 mutations causing early-onset retinal degeneration: preserved but insensitive macular cones |
| Q27318809 | Targeted ablation of CRB1 and CRB2 in retinal progenitor cells mimics Leber congenital amaurosis |
| Q92405255 | Targeted deletion of Crb1/Crb2 in the optic vesicle models key features of leber congenital amaurosis 8 |
| Q37737543 | The CRB1 Complex: Following the Trail of Crumbs to a Feasible Gene Therapy Strategy. |
| Q92301812 | The Enigma of CRB1 and CRB1 Retinopathies |
| Q28080033 | The Family of Crumbs Genes and Human Disease |
| Q34075239 | The Par-PrkC polarity complex is required for cilia growth in zebrafish photoreceptors |
| Q38619065 | The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes. |
| Q37935720 | The genetics of ocular disorders: insights from the zebrafish |
| Q33314432 | Tissue-specific requirements for specific domains in the FERM protein Moe/Epb4.1l5 during early zebrafish development |
| Q33754203 | Towards a quantitative OCT image analysis |
| Q36599306 | Towards understanding CRUMBS function in retinal dystrophies. |
| Q37323334 | Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism |
| Q37543267 | What drives cell morphogenesis: a look inside the vertebrate photoreceptor |
| Q39349904 | Whole exome sequencing identified novel CRB1 mutations in Chinese and Indian populations with autosomal recessive retinitis pigmentosa |
| Q34090415 | Whole exome sequencing identifies CRB1 defect in an unusual maculopathy phenotype |
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