Czech dysplasia metatarsal type: another type II collagen disorder (2007)
Hoornaert, Kristien, MARIK, I, KOZLOWSKI, K, COLE, T, LE MERRER, M, Leroy, Juliaan, ...
Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome (2005)
Tatton-Brown, K., Douglas, J., Coleman, K., Baujat, G. K., Clarke, A., Collins, A., ...
Background: Sotos syndrome (MIM 117550) is characterised by learning difficulties, overgrowth, and a typical facial appearance. Microdeletions at 5q35.3, encompassing NSD1, are responsible for 10% of...
Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome (2005)
Tatton-Brown, K., Douglas, J., Coleman, K., Baujat, G., Chandler, K., Clarke, A., ...
BACKGROUND: Sotos syndrome is characterised by learning difficulties, overgrowth, and a typical facial appearance. Microdeletions at 5q35.3, encompassing NSD1, are responsible for approximately 10%...
System Considerations for a Digital Optical System for a Large Scale Neutrino Observatory (2004)
Kirkham, H., Jackson, S. P., Ling, J. C., Lai, J. Y., Liu, D. T., Hsu, E., ...
A prototype digital optical module has been constructed for use in conjuction with the AMANDA neutrino detector at the South Pole.
Hopwood, P., Wonderling, D., Watson, M., Cull, A., Douglas, F., Cole, T., ...
The aim of the study was to compare psychosocial outcomes for 50 new clinic attendees, referred for cancer genetic counselling to five UK centres. The centres represented England, Scotland and Wales,...
Foster, C., Evans, D. G., Eeles, R., Eccles, D., Ashley, S., Brooks, L., ...
BRCA1/2 test decliners/deferrers have received almost no attention in the literature and this is the first study of this population in the United Kingdom. The aim of this multicenter study is to...
Foster, C., Evans, D.G.R., Eeles, R., Eccles, D., Ashley, S., Brooks, L., ...
BRCA1/2 test decliners/deferrers have received almost no attention in the literature and this is the first study of this population in the United Kingdom. The aim of this multicenter study is to...
BARTELS, CF, BUKULMEZ, H, PADAYATTI, P, RHEE, DK, PAULI, RM, ...
Services for troubled adolescents: Exploring user variation (2003)
Berridge, D., Beecham, J., Brodie, I., Cole, T., Daniels, H., Knapp, M., ...
Tysoe, C., Saunders, J., White, L., Hills, N., Nicol, M., Evans, G., ...
Background: Spondyloepimetaphyseal dysplasia (SEMD) is one of a clinically heterogeneous group of skeletal disorders, characterized by defective growth and modelling of the spine and long bones....
Leach, M.O., Eeles, R.A., Turnbull, L.W., Dixon, A.K., Brown, J., Hoff, R.J., ...
The UK national study of magnetic resonance imaging as a method of screening for breast cancer (MARIBS) is in progress. The study design, accrual to date, and related research projects are described....
Lithium Cell Reactions. (2002)
Clark,W., Dampier,F., Lombardi,A., Cole,T.
The objectives of this program were: (1) investigate reactions occurring in the Li/SOCL2 cell for a range of specified test conditions and (2) perform detailed analyses for impurities present in cell...
Technology Development for a Neutrino Astrophysical Observatory (1996)
Chaloupka, V., Cole, T., Crawford, H.J., He, Y.D., Jackson, S., Kleinfelder, S., ...
Batchelder, J. S., Zewail, A. H., Cole, T.
Experimental techniques are developed to determine the applicability of a particular luminescing center for use in a luminescent solar concentrator (LSC). The relevant steady-state characteristics of...
Batchelder, J. S., Zewail, A. H., Cole, T.
Techniques and calculations are presented that give explicit expressions for the over-all performance of a luminescent solar concentrator (LSC) in terms of the intrinsic spectral response and quantum...
Electron Magnetic Resonance of CH(COOH)2 (1959)
Cole, T., Heller, C., McConnell, H. M.
We have carried out a detailed analysis of the electron magnetic resonance spectra of single crystals of malonic acid that were subjected to 50-kv. X-ray damage at room temperature. A typical...
Curnow, K M, Slutsker, L, Vitek, J, Cole, T, Speiser, P W, New, M I, ...
Steroid 11 beta-hydroxylase deficiency (failure to convert 11-deoxycortisol to cortisol) is the second most common cause of congenital adrenal hyperplasia and results in a hypertensive form of the...
A membrane protein encoded by Epstein-Barr virus in latent growth-transforming infection.
Hennessy, K, Fennewald, S, Hummel, M, Cole, T, Kieff, E
The nucleotide sequence of an Epstein-Barr virus gene expressed in latently infected growth-transformed cells is known to include a long open reading frame containing a 33-base-pair repeat element. A...
Cell lineages of the embryo of the nematode Caenorhabditis elegans.
Deppe, U, Schierenberg, E, Cole, T, Krieg, C, Schmitt, D, Yoder, B, ...
Embryogenesis of the free-living soil nematode Caenorhabditis elegans produces a juvenile having about 550 cells at hatching. We have determined the lineages of 182 cells by tracing the divisions of...
Ostertag, W., Roesler, G., Krieg, C. J., Kind, J., Cole, T., Crozier, T., ...
Thymidine kinase positive (TK+) N type cell lines that had been transformed by spleen focus-forming virus were established by transformation with NB tropic Friend virus complex. Thymidine kinase...
A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation.
Liu, X Z, Hope, C, Liang, C Y, Zou, J M, Xu, L R, Cole, T, ...
Rimai, L., Cole, T., Parsons, J. L., Hickmott, J. T., Carew, E. B.
Using a He-Ne CW laser source together with a digital photon counting system, we have obtained well resolved Raman spectra for adenosine mono-, di-, and triphosphate (AMP, ADP, ATP) in aqueous...
Quasi-Elastic Light Scattering by Diffusional Fluctuations in RNase Solutions
Rimai, L., Hickmott, J. T., Cole, T., Carew, E. B.
Using measurements of quasi-elastic light scattering spectra, we have investigated diffusional fluctuations of RNase. The diffusion coefficient for individual protein molecules, together with the...
Curnow, K M, Slutsker, L, Vitek, J, Cole, T, Speiser, P W, New, M I, ...
Steroid 11 beta-hydroxylase deficiency (failure to convert 11-deoxycortisol to cortisol) is the second most common cause of congenital adrenal hyperplasia and results in a hypertensive form of the...
A membrane protein encoded by Epstein-Barr virus in latent growth-transforming infection.
Hennessy, K, Fennewald, S, Hummel, M, Cole, T, Kieff, E
The nucleotide sequence of an Epstein-Barr virus gene expressed in latently infected growth-transformed cells is known to include a long open reading frame containing a 33-base-pair repeat element. A...
Cell lineages of the embryo of the nematode Caenorhabditis elegans.
Deppe, U, Schierenberg, E, Cole, T, Krieg, C, Schmitt, D, Yoder, B, ...
Embryogenesis of the free-living soil nematode Caenorhabditis elegans produces a juvenile having about 550 cells at hatching. We have determined the lineages of 182 cells by tracing the divisions of...
Ostertag, W., Roesler, G., Krieg, C. J., Kind, J., Cole, T., Crozier, T., ...
Thymidine kinase positive (TK+) N type cell lines that had been transformed by spleen focus-forming virus were established by transformation with NB tropic Friend virus complex. Thymidine kinase...
Rimai, L., Cole, T., Parsons, J. L., Hickmott, J. T., Carew, E. B.
Using a He-Ne CW laser source together with a digital photon counting system, we have obtained well resolved Raman spectra for adenosine mono-, di-, and triphosphate (AMP, ADP, ATP) in aqueous...
Quasi-Elastic Light Scattering by Diffusional Fluctuations in RNase Solutions
Rimai, L., Hickmott, J. T., Cole, T., Carew, E. B.
Using measurements of quasi-elastic light scattering spectra, we have investigated diffusional fluctuations of RNase. The diffusion coefficient for individual protein molecules, together with the...
A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation.
Liu, X Z, Hope, C, Liang, C Y, Zou, J M, Xu, L R, Cole, T, ...
Age, sex, and ischaemic heart disease as prognostic indicators in long-term cardiac pacing.
Fitzgerald, W R, Graham, I M, Cole, T, Evans, D W
The influence of age, sex, and overt ischaemic heart disease on survival after pacing was studied in a population of 427 patients. The median survival for the whole group was 7.75 years. Women...
Late complications following permanent pacemaker implantation or elective unit replacement
Harcombe, A, Newell, S, Ludman, P, Wistow, T, Sharples, L, Schofield, P, ...
Objective—To determine the rate of late complications following first implantation or elective unit replacement of a permanent pacemaker system. Design—Analysis of pacemaker data and...
No evidence for uniparental disomy as a common cause of Sotos syndrome.
Smith, M, Fullwood, P, Qi, Y, Palmer, S, Upadhyaya, M, Cole, T
A number of rare diseases (including Sotos syndrome) of unknown aetiology, which occur mainly sporadically and with features of growth disorder and developmental delay, may be caused by imprinted...
Autosomal dominant inheritance of Weaver syndrome.
Fryer, A, Smith, C, Rosenbloom, L, Cole, T
Most report of Weaver syndrome have been sporadic cases and the genetic basis of the syndrome is uncertain. This report of an affected father and daughter provides evidence for autosomal dominant...
Lindsay, S, Ireland, M, O'Brien, O, Clayton-Smith, J, Hurst, J A, Mann, J, ...
AIMS OF THE STUDY: To identify the proportion and type of deletions present in the glypican 3 (GPC3) gene in a group of patients with Simpson-Golabi-Behmel syndrome (SGBS). SUBJECTS AND METHODS: PCR...
Mitchell, S J, Cole, T, Redford, D H
We report four cases of congenital diaphragmatic hernia occurring in two generations of a consanguineous Pakistani family. The affected subjects resembled no recognised genetic syndrome. This family...
Lam, W., Hatada, I., Ohishi, S., Mukai, T., Joyce, J., Cole, T., ...
Beckwith-Wiedemann syndrome (BWS) is a human imprinting disorder with a variable phenotype. The major features are anterior abdominal wall defects including exomphalos (omphalocele), pre- and...
Beckwith-Wiedemann syndrome and assisted reproduction technology (ART)
Maher, E, Brueton, L, Bowdin, S, Luharia, A, Cooper, W, Cole, T, ...
Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome
Tatton-Brown, K, Douglas, J, Coleman, K, Baujat, G, Chandler, K, Clarke, A, ...
Background: Sotos syndrome (MIM 117550) is characterised by learning difficulties, overgrowth, and a typical facial appearance. Microdeletions at 5q35.3, encompassing NSD1, are responsible for ∼10%...
Whole body bone mineral content in healthy children and adolescents
Molgaard, C., Thomsen, B. L., Prentice, A., Cole, T., Michaelsen, K. F.
Accepted 23 July 1996
Height and weight in cystic fibrosis: a cross sectional study
Morison, S, Dodge, J, Cole, T, Lewis, P, Coles, E, Geddes, D, ...
The need for revised standards for skinfold thickness in infancy
Paul, A, Cole, T, Ahmed, E, Whitehead, R
Skinfold standards provide a useful indication of subcutaneous fat. To evaluate skinfold thickness of 252 Cambridge infants over the first 2 years of age, SD scores relative to the Tanner standards...
Less diarrhoea but no change in growth: 15 years' data from three Gambian villages
Poskitt, E, Cole, T, Whitehead, R, WEAVER, L
AIMS—To review diarrhoea presentations and nutritional status in young rural Gambian children over a 15 year period as a test of an earlier hypothesis that reduced diarrhoea prevalence would lead...
Growth of long term survivors of liver transplantation
Viner, R, Forton, J, Cole, T, Clark, I, Noble-Jamieson, G, Barnes, N
OBJECTIVE—To assess growth in survivors of liver transplantation. Study design—Growth was studied in 105 children up to seven years after liver transplantation. Results—At...
Agwu, J, Shaw, N, Kirk, J, Chapman, S, Ravine, D, Cole, T
Although there are several reports on infant and childhood growth in patients with Sotos syndrome, there is little information on the final height achieved and puberty. Growth data on 40 patients (20...
A clinical comparison of SIDS and explained sudden infant deaths: how healthy and how normal?
Platt, M. W., Blair, P., Fleming, P., Smith, I., Cole, T., Leach, C., ...
OBJECTIVES—To compare the clinical characteristics associated with sudden infant death syndrome (SIDS) and explained sudden unexpected deaths in infancy (SUDI). DESIGN—Three year population...
A simple chart to identify non-familial short stature
OBJECTIVE—To develop a chart to identify non-familial short stature. DESIGN—A height chart that adjusts for maternal, paternal, midparental, or sibling height based on the British 1990 height...
Blair, P., Nadin, P., Cole, T., Fleming, P., Smith, I., Platt, M. W., ...
AIMS—To investigate patterns of infant growth that may influence the risk of sudden infant death syndrome (SIDS). DESIGN—Three year population based case control study with parental interviews...
Rudolf, M., Cole, T., Krom, A., Sahota, P., Walker, J.
AIMS—To determine whether the British 1990 growth charts are valid for cross sectional and longitudinal use in primary school children. METHODS—A total of 694 children aged 7-10 years from 10...
Birth weight, subsequent growth, and cholesterol metabolism in children 8-12 years old born preterm
Mortaz, M, Fewtrell, M, Cole, T, Lucas, A
AIMS—To test the hypothesis that plasma lipids, lipoproteins, and markers of cholesterol biosynthesis (lathosterol) and absorption efficiency (campesterol) in children aged 8-12 years are related...
Growth reference charts for use in the United Kingdom
Wright, C, Booth, I, Buckler, J, Cameron, N, Cole, T, Healy, M, ...
Since the introduction of new growth charts in the mid 1990s, there has been confusion about which charts should be used, with many districts using more than one version. Because of this uncertainty,...
Styles, M, Cole, T, Dennis, J, Preece, M
Aim: To present a growth reference for children with uncomplicated Down's syndrome living in the UK and Republic of Ireland. Data are available for height and weight in the age range 0–18 years,...
Growth hormone (GH) provocation tests and the response to GH treatment in GH deficiency
Cole, T, Hindmarsh, P, Dunger, D
Objective: To identify factors, particularly the growth hormone (GH) provocation test result, affecting growth response to GH treatment in children with GH deficiency (GHD).
Early Helicobacter pylori colonisation: the association with growth faltering in The Gambia
Thomas, J, Dale, A, Bunn, J, Harding, M, Coward, W, Cole, T, ...
Background: Helicobacter pylori is one of the commonest causes of chronic infection of mankind, yet the natural history of acute infection is poorly understood. Some studies suggest that gastric...
Rising obesity and expanding waistlines in schoolchildren: a cohort study
Rudolf, M, Greenwood, D, Cole, T, Levine, R, Sahota, P, Walker, J, ...
Early and late growth and blood pressure in adolescence
Horta, B, Barros, F, Victora, C, Cole, T
Objective: To assess the effect of growth during infancy and childhood on blood pressure in adolescence.
Saxena, S, Ambler, G, Cole, T, Majeed, A
Aims: To determine the percentage of children and young adults who are obese or overweight within different ethnic and socioeconomic groups.
Centiles for adult head circumference.
Bushby, K M, Cole, T, Matthews, J N, Goodship, J A
Reference range for head circumference on the Tanner charts do not go beyond age 16. In this study the head circumference and heights of 354 adults in two British centres were measured. The centile...
Prediction of total body water in infants and children
Wells, J, Fewtrell, M, Davies, P, Williams, J, Coward, W, Cole, T
Background: In paediatric clinical practice treatment is often adjusted in relation to body size, for example the calculation of pharmacological and dialysis dosages. In addition to use of body...
Douglas, J, Tatton-Brown, K, Coleman, K, Guerrero, S, Berg, J, Cole, T, ...
Background: Most cases of Sotos syndrome are caused by intragenic NSD1 mutations or 5q35 microdeletions. It is uncertain whether allelic or genetic heterogeneity underlies the residual cases and it...
Hopwood, P, Wonderling, D, Watson, M, Cull, A, Douglas, F, Cole, T, ...