| Q43077860 | 11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia |
| Q24290547 | 3' deletions cause aniridia by preventing PAX6 gene expression |
| Q34570806 | A 556 kb deletion in the downstream region of the PAX6 gene causes familial aniridia and other eye anomalies in a Chinese family |
| Q24624647 | A 7.5 Mb sequence-ready PAC contig and gene expression map of human chromosome 11p13-p14.1 |
| Q33678536 | A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locus |
| Q45886234 | A de novo translocation 46,X,t(X;15) causing haemophilia B in a girl: a case report |
| Q38335328 | A new set of primers for mutation analysis of the human PAX6 gene |
| Q35882882 | A recombination outside the BB deletion refines the location of the X linked retinitis pigmentosa locus RP3. |
| Q99571290 | A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region |
| Q38696442 | A survey of ancient conserved non-coding elements in the PAX6 locus reveals a landscape of interdigitated cis-regulatory archipelagos |
| Q28591156 | Analysis of Pax6 expression using a BAC transgene reveals the presence of a paired-less isoform of Pax6 in the eye and olfactory bulb |
| Q61850066 | Aniridia due to a novel microdeletion affecting regulatory enhancers: case report and review of the literature |
| Q24540293 | Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region |
| Q41029780 | Campomelic dysplasia with XY sex reversal: diverse phenotypes resulting from mutations in a single gene |
| Q35590966 | Chromosomal translocation in a family with ocular anomalies: indications for karyotype analysis |
| Q42608036 | Cloning of translocation breakpoints associated with Shwachman syndrome and identification of a candidate gene |
| Q36636733 | Complete sequencing of the Fugu WAGR region from WT1 to PAX6: dramatic compaction and conservation of synteny with human chromosome 11p13. |
| Q38666005 | Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements |
| Q37315301 | Contemplating effects of genomic structural variation |
| Q34479642 | Controlled somatic and germline copy number variation in the mouse model |
| Q34119031 | DNaseI hypersensitivity and ultraconservation reveal novel, interdependent long-range enhancers at the complex Pax6 cis-regulatory region |
| Q24656897 | Deletion of long-range regulatory elements upstream of SOX9 causes campomelic dysplasia |
| Q40591409 | Delineation of complex chromosomal rearrangements: evidence for increased complexity |
| Q52553324 | Detection of deletions in de novo "balanced" chromosome rearrangements: further evidence for their role in phenotypic abnormalities. |
| Q30412604 | Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia |
| Q38185270 | Disruption of long-range gene regulation in human genetic disease: a kaleidoscope of general principles, diverse mechanisms and unique phenotypic consequences |
| Q88568711 | Enhancers: bridging the gap between gene control and human disease |
| Q36015804 | Evidence for additional FREM1 heterogeneity in Manitoba oculotrichoanal syndrome. |
| Q48087600 | Evidence that POU factor Brn-3B regulates expression of Pax-6 in neuroretina cells |
| Q33854152 | Exclusion of muscle specific actinin-associated LIM protein (ALP) gene from 4q35 facioscapulohumeral muscular dystrophy (FSHD) candidate genes |
| Q59807135 | Expanded Insights Into Mechanisms of Gene Expression and Disease Related Disruptions |
| Q64928821 | F8 Inversions at Xq28 Causing Hemophilia A Are Associated With Specific Methylation Changes: Implication for Molecular Epigenetic Diagnosis. |
| Q33683098 | FISH studies in a patient with sporadic aniridia and t(7;11) (q31.2;p13) |
| Q40752110 | Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia |
| Q52572412 | From Drosophila mutants to human disease. |
| Q33242280 | Functional conservation of Pax6 regulatory elements in humans and mice demonstrated with a novel transgenic reporter mouse |
| Q36001944 | Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome |
| Q39720018 | Genetics of aniridia and anterior segment dysgenesis |
| Q92690760 | Genome sequencing-the dawn of a game-changing era |
| Q44454288 | Genomic Investigation of Balanced Chromosomal Rearrangements in Patients with Abnormal Phenotypes. |
| Q33899702 | Genomic identification of regulatory elements by evolutionary sequence comparison and functional analysis |
| Q52547238 | Good genes in bad neighbourhoods. |
| Q38553771 | Human Structural Variation: Mechanisms of Chromosome Rearrangements |
| Q48058539 | Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly |
| Q60915674 | Identification of a novel PAX6 mutation in a Chinese family with aniridia |
| Q34383517 | Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome |
| Q35040413 | Identification of genomic regions regulating Pax6 expression in embryonic forebrain using YAC reporter transgenic mouse lines |
| Q57021768 | Implication of non-coding PAX6 mutations in aniridia |
| Q36288559 | Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH |
| Q34741536 | Increased functional connectivity in intrinsic neural networks in individuals with aniridia |
| Q48964218 | Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities |
| Q34604788 | Large novel deletions detected in Chinese families with aniridia: correlation between genotype and phenotype |
| Q24517925 | Localisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease |
| Q33938801 | Long-range control of gene expression: emerging mechanisms and disruption in disease |
| Q36661860 | Long-range downstream enhancers are essential for Pax6 expression |
| Q37087615 | Long-range gene control and genetic disease |
| Q50713709 | Long-term health and development of children diagnosed prenatally with a de novo apparently balanced chromosomal rearrangement. |
| Q50683353 | Mechanisms controlling Pax6 isoform expression in the retina have been conserved between teleosts and mammals. |
| Q51926027 | Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a approximately 0.5-Mb submicroscopic deletion in a patient with mild mental retardation. |
| Q41735698 | Molecular basis of genetic heterogeneity: role of the clinical neurologist |
| Q28236842 | Molecular genetics of facioscapulohumeral muscular dystrophy (FSHD) |
| Q38282888 | Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders |
| Q48685527 | New 3' elements control Pax6 expression in the developing pretectum, neural retina and olfactory region |
| Q35560939 | PAX6 and congenital eye malformations. |
| Q33903915 | PAX6 haplotypes are associated with high myopia in Han chinese. |
| Q52606261 | PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia. |
| Q41103230 | Pax proteins and eye development |
| Q39585969 | Pre-selection of integration sites imparts repeatable transgene expression |
| Q77840099 | Prediction by FISH analysis of the occurrence of Wilms tumor in aniridia patients |
| Q38389913 | Regulation of cerebral cortical neurogenesis by the Pax6 transcription factor |
| Q47753216 | SNTG1, the gene encoding gamma1-syntrophin: a candidate gene for idiopathic scoliosis |
| Q27325642 | Sequencing of Pax6 loci from the elephant shark reveals a family of Pax6 genes in vertebrate genomes, forged by ancient duplications and divergences |
| Q55490608 | Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation. |
| Q21145050 | Subfunctionalization of duplicated zebrafish pax6 genes by cis-regulatory divergence |
| Q51944946 | Systematic human/zebrafish comparative identification of cis-regulatory activity around vertebrate developmental transcription factor genes. |
| Q36213375 | The Gene Regulatory Network of Lens Induction Is Wired through Meis-Dependent Shadow Enhancers of Pax6. |
| Q37704614 | The clinical context of copy number variation in the human genome |
| Q52118273 | The elastin gene is disrupted in a family with a balanced translocation t(7;16)(q11.23;q13) associated with a variable expression of the Williams-Beuren syndrome. |
| Q28273225 | The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25 |
| Q64446105 | The genetic architecture of aniridia and Gillespie syndrome |
| Q49824570 | The genetics of aniridia - simple things become complicated |
| Q33678646 | The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases. |
| Q41170335 | Transcription factor genes and the developing eye: a genetic perspective |
| Q36446768 | Transcriptional and epigenetic mechanisms of early cortical development: An examination of how Pax6 coordinates cortical development |
| Q33186731 | Translocation breakpoint in two unrelated Tourette syndrome cases, within a region previously linked to the disorder |
| Q41235658 | Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9. |
| Q35603521 | Two novel mutations of the PAX6 gene causing different phenotype in a cohort of Chinese patients |
| Q57185103 | Visualizing the Spatial Relationships between Defined DNA Sequences and the Axial Region of Extracted Metaphase Chromosomes |