464 results on '"van Heyningen, Veronica"'
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2. Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus.
3. Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration
4. Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa
5. Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction
6. Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence.
7. Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects
8. Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.
9. Genome sequencing—the dawn of a game-changing era
10. A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction.
11. Complete Sequencing of the Fugu WAGR Region from WT1 to PAX6: Dramatic Compaction and Conservation of Synteny with Human Chromosome 11p13
12. Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene
13. eye genes: Looking forward, glancing back
14. A Journey Through Genetics to Biology
15. Introduction: Regulation from a distance: long-range control of gene expression in development and disease
16. PAX6, Aniridia, and Related Phenotypes*
17. List of Contributors
18. Congenital Abnormalities and SOX2 Mutations
19. Long-Range Gene Regulation Links Genomic Type 2 Diabetes and Obesity Risk Regions to HHEX, SOX4, and IRX3
20. The Calgranulins, Members of the S-100 Protein Family: Structural Features, Expression, and Possible Function
21. Possible Role for Two Calcium-Binding Proteins of the S-100 Family, Co-Expressed in Granulocytes and Certain Epithelia
22. Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability
23. Molecular Analysis of Chromosome 11 Deletions in Aniridia-Wilms Tumor Syndrome
24. HRAS1-Selected Chromosome Transfer Generates Markers that Colocalize Aniridia- and Genitourinary Dysplasia-Associated Translocation Breakpoints and the Wilms Tumor Gene within Band 11p13
25. Heterozygous mutations of OTX2 cause severe ocular malformations
26. Long-range control of gene expression: emerging mechanisms and disruption in disease
27. Conserved elements in Pax6 intron 7 involved in (auto)regulation and alternative transcription
28. Non-Coding Sequence Variation Effects on Tissue-Specific Gene Expression
29. Characterization of a novel gene adjacent to PAX6, revealing synteny conservation with functional significance
30. Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia
31. Preface
32. Functional Predictors of Causative Cis-Regulatory Mutations in Mendelian Disease
33. Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen
34. Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes
35. Model Organisms Illuminate Human Genetics and Disease
36. Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia
37. Raised risk of Wilms tumour in patients with aniridia and submicroscopic WT1 deletion
38. Auditory Interhemispheric Transfer Deficits, Hearing Difficulties, and Brain Magnetic Resonance Imaging Abnormalities in Children With Congenital Aniridia Due to PAX6 Mutations
39. Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome
40. Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother
41. Role of SOX2 Mutations in Human Hippocampal Malformations and Epilepsy
42. Mechanisms of non-Mendelian inheritance in genetic disease
43. SV40-mediated tumor selection and chromosome transfer to enrich for cystic fibrosis region
44. PAX6 in sensory development
45. Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma
46. Medicine: Short cut to disease genes
47. Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6
48. Mouse Small eye results from mutations in a paired-like homeobox-containing gene
49. Aniridia
50. Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy
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