161 results on '"Buys, Charles H. C."'
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2. Inheritance mode of multiple sclerosis: the effect of HLA class II alleles is stronger than additive
3. Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flowchart
4. An EGP-2/Ep-CAM-expressing transgenic rat model to evaluate antibody-mediated immunotherapy
5. Implications of intragenic marker homozygosity and haplotype sharing in a rare autosomal recessive disorder: the example of the collagen type XVII (COL17A1) locus in generalised atrophic benign epidermolysis bullosa
6. Haplotype identity between individuals who share a CFTR mutation allele “identical by descent”: demonstration of the usefulness of the haplotype-sharing concept for gene mapping in real populations
7. Mutation analysis of the RET proto-oncogene in Dutch families with MEN 2A, MEN 2B and FMTC: two novel mutations and one de novo mutation for MEN 2A
8. Refinement by linkage analysis in two large families of the candidate region of the third locus (SCA3) for autosomal dominant cerebellar ataxia type I
9. An absolute procedure to test the growth potential of medium and the influence of decreased oxygen tension in primary amniotic fluid cell cultures
10. Mapping of two new markers within the smallest interval harboring the spinal muscular atrophy locus by family and radiation hybrid analysis
11. Partial 3q duplication syndrome and assignment of D3S5 to 3q25–3q28
12. Partial Revertant Mosaicism of Keratin 14 in a Patient with Recessive Epidermolysis Bullosa Simplex1
13. Exempting Homologous Pseudogene Sequences from Polymerase Chain Reaction Amplification Allows Genomic Keratin 14 Hotspot Mutation Analysis
14. A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome)
15. Validation of the determination of ΔF508 mutations of the cystic fibrosis gene in over 11000 mouthwashes
16. No mutations found byRET mutation scanning in sporadic and hereditary neuroblastoma
17. Homozygous arginine-72 in wild type p53 and risk of cervical cancer
18. A sublocus of the multicopy microsatellite marker CMS1 maps proximal to spinal muscular atrophy (SMA) as shown by recombinant analysis
19. Ordering of markers in the pericentromeric region of chromosome 10
20. The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol
21. Physical localisation of the chromosomal marker D13S31 places the Wilson disease locus at the junction of bands q14.3 and q21.1 of chromosome 13
22. Assignment of the gene coding for human cytochrome c oxidase subunit VIb to chromosome 19, band q13.1, by fluorescence in situ hybridisation
23. Close linkage of the Wilsons's disease locus to D13S12 in the chromosomal region 13q21 and not to ESD in 13q14
24. Frequency of the ΔF508 mutation and XV2c,KM19 haplotypes in cystic fibrosis families from The Netherlands: haplotypes without ΔF508 still in disequilibrium
25. A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus
26. Banding of unfixed mitotic chromosomes in suspension after release from human lymphocytes and fibroblasts
27. Selective staining of the same set of nucleolar phosphoproteins by silver and Giemsa: A combined biochemical and cytochemical study on staining of NORs
28. Localization of DNA probes with tight linkage to the cystic fibrosis locus by in situ hybridization using fibroblasts with a 7q22 deletion
29. Abundance of protein-bound sulfhydryl and bisulfide groups at chromosomal nucleolus organizing regions: A cytochemical study on the selective silver staining of NORs
30. Involvement of sulfhydryl groups of chromosomal proteins in sister chromatid differentiation
31. Localization at a subband level of polymorphic 13q14 DNA probes for diagnosis of hereditary retinoblastoma and Wilson disease
32. Well-identifiable human chromosomes Isolated from mitotic fibroblasts by a new method
33. First-trimester use of paroxetine and congenital heart defects: A population-based case-control study
34. In Vitro Fertilization With Preimplantation Genetic Screening
35. Functional analysis of lung tumor suppressor activity at 3p21.3
36. A substantial proportion of microsatellite-unstable colon tumors carryTP53 mutations while not showing chromosomal instability
37. Remarks on the article “Use of linkage equilibrium data in prenatal diagnosis of cystic fibrosis” by L. Strain et al.
38. Comprehensive TP53-Denaturing Gradient Gel Electrophoresis Mutation Detection Assay Also Applicable to Archival Paraffin-Embedded Tissue
39. Inactivation of the von Hippel–Lindau ( VHL ) tumour suppressor gene and allelic losses at chromosome arm 3p in primary renal cell carcinoma: Evidence for a VHL ‐independent pathway in clear cell renal tumourigenesis
40. Inactivation of the von Hippel–Lindau (VHL) tumour suppressor gene and allelic losses at chromosome arm 3p in primary renal cell carcinoma: Evidence for aVHL-independent pathway in clear cell renal tumourigenesis
41. A Novel Point Mutation in the Intracellular Domain of theretProtooncogene in a Family with Medullary Thyroid Carcinoma1
42. Analysis of multiple renal cell adenomas and carcinomas suggests allelic loss at 3p21 to be a prerequisite for malignant development
43. NormalFHIT transcripts in renal cell cancer- and lung cancer-derived cell lines, including a cell line with a homozygous deletion in the FRA3B region
44. Involvement of multiple loci on chromosome 3 in renal cell cancer development
45. MSH2 andMLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis
46. Major role for a 3p21 region and lack of involvement of the t(3;8) breakpoint region in the development of renal cell carcinoma suggested by loss of heterozygosity analysis
47. Defining the position of the breakpoint of the constitutional t(3;6) occurring in a family with renal cell carcinoma
48. A novel mutation (G1249R) in exon 20 of the CFTR gene
49. A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma
50. Identification of a tumor marker chromosome by flow sorting, DNA amplification in vitro, and in situ hybridization of the amplified product
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