Search Results - "HYLAND, V. J."

Cytokine production by normal human monocytes: inter‐subject variation and relationship to an IL‐1 receptor antagonist (IL‐1Ra) gene polymorphism by DANIS, V. A., MILLINGTON, M., HYLAND, V. J., GRENNAN, D.

“…SUMMARY Monocytes from different individuals show variable cytokine production in response to a variety of stimuli. We wished to determine the sets of…”
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Familial growth and skeletal features associated with SHOX haploinsufficiency by Munns, C F J, Glass, I A, Flanagan, S, Hayes, M, Williams, B, Berry, M, Vickers, D, O'Rourke, P, Rao, E, Rappold, G A, Hyland, V J, Batch, J A

“…This study was designed to determine the intrafamilial effect of SHOX haploinsufficiency on stature, by comparing the growth and phenotype of 26 SHOX…”
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Effect of 24 months of recombinant growth hormone on height and body proportions in SHOX haploinsufficiency by Munns, C F J, Berry, M, Vickers, D, Rappold, G A, Hyland, V J, Glass, I A, Batch, J A

“…Leri-Weill syndrome (LWS) is a skeletal dysplasia with mesomelic short stature, bilateral Madelung deformity (BMD) and SHOX (short stature homeobox-containing…”
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Solid-Phase Amplification for Detection of C282Y and H63D Hemochromatosis (HFE) Gene Mutations by Turner, Mark S, Penning, Sarah, Sharp, Angela, Hyland, Valentine J, Harris, Ray, Morris, C. Phillip, van Daal, Angela

“…There is a need for simple, rapid, and inexpensive methods for the detection of single-nucleotide polymorphisms. Our aim was to develop a single-tube…”
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Molecular detection of prostate cells in ejaculate and urethral washings in men with suspected prostate cancer by Clements, J A, Rohde, P, Allen, V, Hyland, V J, Samaratunga, M L, Tilley, W D, Lavin, M F, Gardiner, R A

“…To determine whether prostatic cells were normally present in ejaculate and if the sensitivity and specificity of the detection of malignant prostate cells in…”
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Physical mapping of new DNA probes near the fragile X mutation (FRAXA) by using a panel of cell lines by SUTHERS, G. K, HYLAND, V. J, BAKER, E, OOSTRA, B. A, DAHL, N, WILSON, P. J, HOPWOOD, J. J, SUTHERLAND, G. R, CALLEN, D. F, OBERLE, I, ROCCHI, M, THOMAS, N. S, MORRIS, C. P, SCHWARTZ, C. E, SCHMIDT, M, ROPERS, H. H

“…The fragile X syndrome is a very common disorder, but there has been little progress toward isolating the fragile X mutation (FRAXA). We describe a panel of 14…”
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A New DNA Marker Tightly Linked to the Fragile X Locus (FRAXA) by Suthers, G. K., Callen, D. F., Hyland, V. J., Kozman, H. M., Baker, E., Eyre, H., Harper, P. S., Roberts, S. H., Hors-Cayla, M. C., Davies, K. E., Bell, M. V., Sutherland, G. R.

“…The fragile X syndrome is the most common cause of familial mental retardation. Genetic counseling and gene isolation are hampered by a lack of DNA markers…”
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Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene by Mulligan, L M, Eng, C, Attié, T, Lyonnet, S, Marsh, D J, Hyland, V J, Robinson, B G, Frilling, A, Verellen-Dumoulin, C, Safar, A

“…Mutations of the RET proto-oncogene are the underlying cause of some cases of Hirschsprung disease (HSCR) and the inherited cancer syndromes multiple endocrine…”
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Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood by Flanagan, S F, Munns, C F J, Hayes, M, Williams, B, Berry, M, Vickers, D, Rao, E, Rappold, G A, Batch, J A, Hyland, V J, Glass, I A

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The gene for human leukemia inhibitory factor (LIF) maps to 22q12 by Sutherland, G R, Baker, E, Hyland, V J, Callen, D F, Stahl, J, Gough, N M

“…The gene for human leukemia inhibitory factor (LIF) has been mapped by Southern analysis of a series of mouse/human somatic cell hybrids and by in situ…”
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Isolation of a human DNA sequence which spans the fragile X by KREMER, E. J, YU, S, TONIOLO, D, VINCENT, A, ROUSSEAU, F, SCHLESSINGER, D, SUTHERLAND, G. R, RICHARDS, R. I, PRITCHARD, M, NAGARAJA, R, HEITZ, D, LYNCH, M, BAKER, E, HYLAND, V. J, LITTLE, R. D, WADA, M

“…To identify the sequences involved in the expression of the fragile X and to characterize the molecular basis of the genetic lesion, we have constructed yeast…”
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5-Aminolevulinate synthase is at 3p21 and thus not the primary defect in X-linked sideroblastic anemia by SUTHERLAND, G. R, BAKER, E, CALLEN, D. F, HYLAND, V. J, MAY, B. K, BAWDEN, M. J, HEALY, H. M, BORTHWICK, I. A

“…The gene for 5-aminolevulinate synthase (ALAS) has been mapped to 3pter-3q13.2 by Southern blot hybridization analysis of a mouse/human hybrid cell panel. In…”
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A TaqI RFLP detected by the human haptoglobin (HP) cDNA probe, pULB1148 by HYLAND, V. J

“…Images…”
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Genetic mapping of new RFLPs at Xq27-q28 by Suthers, G K, Oberlé, I, Nancarrow, J, Mulley, J C, Hyland, V J, Wilson, P J, McCure, J, Morris, C P, Hopwood, J J, Mandel, J L

“…The development of the human gene map in the region of the fragile X mutation (FRAXA) at Xq27 has been hampered by a lack of closely linked polymorphic loci…”
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Structure and chromosomal localization of the human renal kallikrein gene by Evans, Bronwyn A, Yun, Zhang Xiao, Close, Jacqueline A, Tregear, Geoffrey W, Kitamura, Naomi, Nakanishi, Shigetada, Callen, David F, Baker, Elizabeth, Hyland, Valentine J

“…Glandular kallikreins are a family of proteases encoded by a variable number of genes in different mammalian species. In all species examined, however, one…”
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Dinucleotide repeat polymorphism at D16S287 by PHILLIPS, H. A, HYLAND, V. J, HOLMAN, K, CALLEN, D. F, RICHARDS, R. I, MULLEY, J. C

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Fragile X syndrome : diagnosis using highly polymorphic microsatellite markers by RICHARDS, R. I, YANG SHEN, HOLMAN, K, KOZMAN, H, HYLAND, V. J, MULLEY, J. C, SUTHERLAND, G. R

“…We describe two highly polymorphic microsatellite AC repeat sequences, VK23AC and VK14AC, which are closely linked to the fragile X at Xq27.3. Both VK23AC…”
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Map of 16 polymorphic loci on the short arm of chromosome 16 close to the polycystic kidney disease gene (PKD1) by Breuning, M H, Snijdewint, F G, Brunner, H, Verwest, A, Ijdo, J W, Saris, J J, Dauwerse, J G, Blonden, L, Keith, T, Callen, D F

“…To define the PKD1 locus further, the gene involved in the most frequent form of adult polycystic kidney disease, probes from 16 polymorphic loci were mapped…”
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Interleukin 4 is at 5q31 and interleukin 6 is at 7p15 by SUTHERLAND, G. R, BAKER, E, VADAS, M. A, CALLEN, D. F, HYLAND, V. J, WONG, G, CLARK, S, JONES, S. S, EGLINTON, L. K, SHANNON, M. F, LOPEZ, A. F

“…DNA probes to the human interleukin 4 (IL4) and interleukin 6 (IL6) genes have been used for in situ hybridization to normal human chromosomes and Southern…”
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Absence of MEN2A- or 2B-type RET mutations in primary neuroblastoma tumour tissue by Peaston, A E, Camacho, M L, Norris, M D, Haber, M, Marsh, D J, Robinson, B G, Hyland, V J, Marshall, G M

“…Specific germline mutations in the RET proto-oncogene predispose to the familial cancer syndromes: multiple endocrine neoplasia (MEN) types 2A and 2B, and…”
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