339 results on '"Slater, Howard"'
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2. Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis.
3. Diagnostic application of kidney allograft-derived absolute cell-free DNA levels during transplant dysfunction
4. A New Cosmological Model: Origin and Maintenance of the Universe
5. Human Centromere Repositioning "In Progress"
6. Real time emulation environment for digital control development
7. Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features
8. Thermal and Particle Diffusion Waves Describe the Relative Mass of Free Standard Model Particles
9. ADGRV1 is implicated in myoclonic epilepsy
10. Clinical audit of genetic testing and referral patterns for fragile X and associated conditions
11. Prenatal diagnosis of fragile X syndrome complicated by full mutation retraction
12. Cromalin, a New Art Medium
13. Methylation Analysis in Newborn Screening for Fragile X Syndrome
14. Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions
15. High resolution chromosomal microarray in undiagnosed neurological disorders
16. Molecular distinction between true centric fission and pericentric duplication-fission
17. Centric fission – simple and complex mechanisms
18. High-resolution identification of chromosomal abnormalities using oligonucleotide arrays containing 116,204 SNPs
19. Pericentromeric euchromatin is conserved in minute human supernumerary chromosomes: a study using cross-species colour segmenting (RxFISH)
20. Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature
21. Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty
22. RCPA/HGSA RESOURCES FOR QUALITY ASSURANCE IN GENOMICS
23. Application of a new molecular technique for the genetic evaluation of products of conception
24. Identification of Small FRAXA Premutations
25. KaryoLite™ BoBs™ test for the genetic analysis of miscarriage products: An efficient and cost-effective workflow: 5-6
26. Extending the scope of diagnostic chromosome analysis: Detection of single gene defects using high-resolution SNP microarrays
27. Phenotypic variability of distal 22q11.2 copy number abnormalities
28. Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes
29. Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio
30. Linking the FMR1 Alleles With Small CGG Expansions With Neurodevelopmental Disorders: Preliminary Data Suggest an Involvement of Epigenetic Mechanisms
31. Prenatal detection of deletion-duplication of chromosome 3 arising from meiotic recombination of a familial pericentric inversion
32. Additional file 1: of Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features
33. High-throughput analysis of chromosome abnormality in spontaneous miscarriage using an MLPA subtelomere assay with an ancillary FISH test for polyploidy
34. Epiphyseal Dysplasia and Other Skeletal Anomalies in a Patient With the 6p25 Microdeletion Syndrome
35. A Patient With Monosomy 1p36, Atypical Features and Phenotypic Similarities With Cantu Syndrome
36. Detection of Cryptic Subtelomeric Chromosome Abnormalities and Identification of Anonymous Chromatin Using a Quantitative Multiplex Ligation-Dependent Probe Amplification (MLPA) Assay
37. Chromosomal duplication of band 10p14 segregating through four generations
38. Neocentromere formation in a stable ring 1p32-p36.1 chromosome
39. Directly inherited partial trisomy of chromosome 6p identified in a father and daughter by chromosome microdissection
40. Significantly Elevated FMR1 mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing
41. High frequency of t(12;21) in childhood acute lymphoblastic leukemia detected by RT-PCR
42. "Reduction" of CGG trinucleotide expansion from mother to offspring in seven fragile-X families
43. An improved Diagnostic PCR Assay for identification of Cryptic Heterozygosity for CGG Triplet Repeat Alleles in the Fragile X Gene (FMR1)
44. Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome
45. Applied high-speed imaging for the icing research program at NASA Lewis Research Center
46. Applied high-speed imaging for the icing research program at NASA Lewis Research Center
47. Sensorless Control of IM Based on Stator-Voltage MRAS for Limp-Home EV Applications
48. β-glucuronidase use as a single internal control gene may confound analysis in FMR1 mRNA toxicity studies
49. The use of droplet digital PCR and high resolution melt for detection of low level mosaicism
50. ADGRV1 is implicated in myoclonic epilepsy
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