386 results on '"van Heyningen, V."'
Search Results
2. Zinc Finger Point Mutations Within the WT1 Gene in Wilms Tumor Patients
3. Wilms Tumour - A Developmental Anomaly
4. FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality
5. Hemolytic uremic syndrome associated with Denys-Drash syndrome
6. Mitochondrial and other enzymes in somatic cell hybrids
7. Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2
8. Modulation of DNA Binding Specificity by Alternative Splicing of the Wilms Tumor wt1 Gene Transcript
9. National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology
10. PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation
11. In utero nephropathy, Denys-Drash syndrome and Potter phenotype
12. A ROLE FOR PAX6 IN RHOMBIC LIP DERIVED NEURONS
13. Pheno4J: A gene to phenotype graph database
14. Mitochondrial and other enzymes in somatic cell hybrids
15. Wilms’ Tumour ’ A Developmental Anomaly
16. Molecular Analysis of the Aniridia — Wilms’ Tumor Syndrome
17. EagI and NotI linking clones from human chromosomes 11 and Xp
18. Linkage relationships of the HL-A system and beta 2 microglobulin
19. Do children with diffuse mesangial sclerosis in association with mutations of the Wilms' tumour suppressor gene (WT1) require bilateral nephrectomy?
20. FISH studies in patients with aniridia reveals [is greater than] 35% with chromosome abnormalities including five cryptic 3 PAX6 deletions
21. The development of resistance to methotrexate in a mouse melanoma cell line: I. Characterisation of the dihydrofolate reductases and chromosomes in sensitive and resistant cells
22. Characterization of a panel of somatic cell hybrids for subregional mapping along 11p and within band 11p13: Subdivision of the WAGR complex region
23. Assignment to chromosome 16 of a gene necessary for the expression of human mitochondrial glutamate oxaloacetate transaminase (aspartate aminotransferase) (E.C. 2.6.1.1.)
24. Genetic testing in asymptomatic minors: Recommendations of the European Society of Human Genetics
25. SELECTION OF MONOCLONAL ANTIBODIES FOR DESIGNATED USES
26. Molecular Analysis of the Aniridia — Wilms’ Tumor Syndrome
27. TOWARD ANALYSIS OF THE HLA-DR SYSTEM WITH MONOCLONAL ANTIBODIES
28. MITOCHONDRIAL ENZYMES IN MAN-MOUSE HYBRID CELLS
29. Monoclonal Anti-B Cell Antibodies: their Effects on Human Mixed Lymphocyte Reactions
30. Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) sindrome
31. Call for patients
32. Report of the Fifth International Workshop on Human Chromosome 11 Mapping 1996
33. Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes
34. Mechanisms of non-Mendelian inheritance in genetic disease
35. Cognitive functioning in humans with mutations of the PAX6 gene
36. Association between pregnancy-associatedα 2-glycoprotein (α 2-PAG) and mixed leucocyte reaction determinants on the leucocyte surface
37. PAX6 in sensory development
38. PAX6mutation in a family with aniridia, congenital ptosis, and mental retardation
39. Role of Pax6 in development of the cerebellar system
40. Psychiatric disorder and cognitive function in a family with an inherited, novel mutation of the developmental control gene PAX6
41. Report of the Sixth International Workshop on Human Chromosome 11 Mapping 1998
42. Tandem duplication of 11p12-p13 in a child with borderline development delay and eye abnormalities: Dose effect of the PAX6 gene product?
43. Combined SSCP/heteroduplex analysis in the screening for PAX6 mutations
44. Pax6 Controls Progenitor Cell Identity and Neuronal Fate in Response to Graded Shh Signaling
45. The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases.
46. A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locus.
47. A new PAX6 mutation in familial aniridia.
48. Micronucleus frequencies in lymphoblastoid cell lines measured with the cytokinesis-block technique and flow cytometry
49. Assignment of 112 Microsatellite Markers to 23 Chromosome 11 Subregions Delineated by Somatic Hybrids: Comparison with the Genetic Map
50. Reassessment of breakpoints in chromosome 11p15
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