Search Results - "RICHARDS, R. I"

Dynamic mutations : a decade of unstable expanded repeats in human genetic disease by RICHARDS, Robert I

“…The term 'dynamic mutation' was introduced to distinguish the unique properties of expanding, unstable DNA repeat sequences from other forms of mutation. The…”
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Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus by DUDDING, T. E, FRIEND, K, SCHOFIELD, P. W, LEE, S, WILKINSON, I. A, RICHARDS, R. I

“…Most patients with pure nonprogressive congenital cerebellar ataxia have a sporadic form of unknown heredity and etiology. Several small families have been…”
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Common chromosomal fragile site FRA16D sequence : identification of the FOR gene spanning FRA16D and homozygous deletions and translocation breakpoints in cancer cells by RIED, K, FINNIS, M, BAKER, E, RICHARDS, R. I, HOBSON, L, MANGELSDORF, M, DAYAN, S, NANCARROW, J. K, WOOLLATT, E, KREMMIDIOTIS, G, GARDNER, A, VENTER, D

“…Fluorescence in situ hybridization of a tile path of DNA subclones has previously enabled the cyto-genetic definition of the minimal DNA sequence which spans…”
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Mapping of DNA Instability at the Fragile X to a Trinucleotide Repeat Sequence p(CCG)n by Kremer, E. J., Pritchard, M., Lynch, M., Yu, S., Holman, K., Baker, E., Warren, S. T., Schlessinger, D., Sutherland, G. R., Richards, R. I.

“…The sequence of a Pst I restriction fragment was determined that demonstrates instability in fragile X syndrome pedigrees. The region of instability was…”
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Dynamic mutations: a new class of mutations causing human disease by Richards, R I, Sutherland, G R

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Fragile X Genotype Characterized by an Unstable Region of DNA by Yu, S., Pritchard, M., Kremer, E., Lynch, M., Nancarrow, J., Baker, E., Holman, K., Mulley, J. C., Warren, S. T., Schlessinger, D., Sutherland, G. R., Richards, R. I.

“…DNA sequences have been located at the fragile X site by in sim hybridization and by the mapping of breakpoints in two somatic cell hybrids that were…”
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Simple Tandem DNA Repeats and Human Genetic Disease by Sutherland, Grant R., Richards, Robert I.

“…The human genome contains many repeated DNA sequences that vary in complexity of repeating unit from a single nucleotide to a whole gene. The repeat sequences…”
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Fragile sites still breaking by Sutherland, Grant R, Baker, Elizabeth, Richards, Robert I

“…Rare fragile sites on chromosomes are the archetypal dynamic mutations. They involve large expansions of the microsatellite CCG or AT-rich minisatellites. The…”
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Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2 by Jones, C, Penny, L, Mattina, T, Yu, S, Baker, E, Voullaire, L, Langdon, W. Y, Sutherland, G. R, Richards, R. I, Tunnacliffe, A

“…The fragile site FRA11B has been localized to the p(CCG)n repeat of the CBL2 proto-oncogene. A proportion of Jacobsen (11q-) syndrome patients inherited a…”
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Chromosomal fragile site FRA16D and DNA instability in cancer by MANGELSDORF, M, RIED, K, RICHARDS, R. I, WOOLLATT, E, DAYAN, S, EYRE, H, FINNIS, M, HOBSON, L, NANCARROW, J, VENTER, D, BAKER, E

“…It has been proposed that common aphidicolin-inducible fragile sites, in general, predispose to specific chromosomal breakage associated with deletion,…”
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Incidence and origin of null alleles in the (AC)n microsatellite markers by CALLEN, D. F, THOMPSON, A. D, YANG SHEN, PHILLIPS, H. A, RICHARDS, R. I, MULLEY, J. C, SUTHERLAND, G. R

“…Twenty-three (AC)n repeat markers from chromosome 16 were typed in the parents of the 40 CEPH (Centre d'Etude du Polymorphisme Humain) families. Where parents…”
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Fragile-X syndrome : unique genetics of the heritable unstable element by YU, S, MULLEY, J, SUTHERLAND, G. R, RICHARDS, R. I, LOESCH, D, TURNER, G, DONNELLY, A, GEDEON, A, HILLEN, D, KREMER, E, LYNCH, M, PRITCHARD, M

“…The fragile site at Xq27.3 is an unstable microsatellite repeat, p(CCG)n. In fragile-X syndrome pedigrees, this sequence exhibits variable amplification, the…”
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Fragile X syndrome unstable element, p(CCG)n, and other simple tandem repeat sequences are binding sites for specific nuclear proteins by Richards, R I, Holman, K, Yu, S, Sutherland, G R

“…The trinucleotide repeat sequences which become unstable in fragile X syndrome and myotonic dystrophy are located in the untranslated regions of their…”
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Fragile and unstable chromosomes in cancer: causes and consequences by Richards, Robert I.

“…Cancer cells commonly exhibit various forms of genetic instability, such as changes in chromosome copy number, translocations and point mutations in particular…”
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Mouse glandular kallikrein genes. Structure and partial sequence analysis of the kallikrein gene locus by Evans, B A, Drinkwater, C C, Richards, R I

“…Mouse glandular kallikreins are encoded by a family of closely linked genes which are located on chromosome 7 at a site corresponding to the genetically…”
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Implications of FRA16A Structure for the Mechanism of Chromosomal Fragile Site Genesis by Nancarrow, J. K., Kremer, E., Holman, K., Eyre, H., Doggett, N. A., Le Paslier, D., Callen, D. F., Sutherland, G. R., Richards, R. I.

“…Fragile sites are chemically induced nonstaining gaps in chromosomes. Different fragile sites vary in frequency in the population and in the chemistry of their…”
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Effectiveness of different precipitated phosphates as phosphorus sources for plants by Johnston, A.E, Richards, I.R

“…Eleven precipitated phosphates were evaluated as sources of phosphorus (P) for plant growth by comparing their effectiveness with that of monocalcium…”
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Physical linkage of the fragile site FRA11B and a Jacobsen syndrome chromosome deletion breakpoint in 11q23.3 by Jones, C, Slijepcevic, P, Marsh, S, Baker, E, Langdon, W Y, Richards, R I, Tunnacliffe, A

“…Autosomal fragile sites, unlike their X-linked counterparts, are not known to be associated with disease. However, one case report has highlighted a possible…”
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Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM by FRIEND, K. L, CRIMMINS, D, PHAN, T. G, SUE, C. M, COLLEY, A, FUNG, V. S. C, MORRIS, J. G. L, SUTHERLAND, G. R, RICHARDS, R. I

“…Mutations in the brain specific P/Q type Ca2+ channel alpha1 subunit gene, CACNA1A, have been identified in three clinically distinct disorders, viz. episodic…”
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CAG Repeat Expansion in Autosomal Dominant Familial Spastic Paraparesis: Novel Expansion in a Subset of Patients by Benson, Kathleen F., Horwitz, Marshall, Wolff, John, Friend, Kathy, Thompson, Elizabeth, White, Sue, Richards, Robert I., Raskind, Wendy H., Bird, Thomas D.

“…Autosomal dominant familial spastic paraplegia (FSP) is a genetically heterogeneous neurodegenerative disorder displaying anticipation for which three loci…”
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