Search Results - "Miedzybrodzka, ZH"

Long‐term cognitive outcomes in tuberous sclerosis complex by Tye, Charlotte, Mcewen, Fiona S, Liang, Holan, Underwood, Lisa, Woodhouse, Emma, Barker, Edward D, Sheerin, Fintan, Yates, John R W, Bolton, Patrick F, Higgins, N, Attard, V, Clarke, A, Elmslie, FV, Saggar, AK, Baines, D, Kerr, BA, Brayne, C, Carcani‐Rathwell, I, Connolly, C, Clifford, M, Lydon, A, Oluwo, F, Rogers, H, Srivastava, C, Steenbruggen, J, Cook, JA, Falconer, C, Davies, DM, Sampson, JR, Fryer, AE, Haslop, M, Granader, Y, Griffiths, PD, Hunt, A, Lam, WWK, Kingswood, JC, Miedzybrodzka, ZH, Crawford, H, Morrison, PJ, O'Callaghan, FJK, Philip, SG, Seri, S, Sheehan‐Dare, R, Shepherd, CH

“…Aim To investigate the interdependence between risk factors associated with long‐term intellectual development in individuals with tuberous sclerosis complex…”
Get full text

The Tuberous Sclerosis 2000 Study: presentation, initial assessments and implications for diagnosis and management by Yates, John RW, MacLean, Cathy, Higgins, J Nicholas P, Humphrey, Ayla, le Maréchal, Kate, Clifford, Michelle, Carcani-Rathwell, Iris, Sampson, Julian R, Bolton, Patrick F

“…Aims The Tuberous Sclerosis 2000 Study is the first comprehensive longitudinal study of tuberous sclerosis (TS) and aims to identify factors that determine…”
Get full text

Prothrombotic genotypes are not associated with pre-eclampsia and gestational hypertension: results from a large population-based study and systematic review by Morrison, E R, Miedzybrodzka, Z H, Campbell, D M, Haites, N E, Wilson, B J, Watson, M S, Greaves, M, Vickers, M A

“…DNA samples collected as part of a large population-based case-control study were genotyped to examine the associations of five prothrombotic gene…”
Get more information

Factor analysis can be a useful standard setting tool in a high stakes OSCE assessment by Chesser, Alistair M S, Laing, Malcolm R, Miedzybrodzka, Zosia H, Brittenden, Julie, Heys, Steven D

“…Background  No method of standard setting for objective structured clinical examinations (OSCEs) is perfect. Using scores aggregated across stations risks…”
Get full text

Incorrect recall of residual risk three years after carrier screening for cystic fibrosis: A comparison of two-step and couple screening by Marteau, Theresa M., Michie, Susan, Miedzybrodzka, Zosia H., Allanson a, Abi

“…Objective: This study was undertaken to compare long-term recall of the meaning of test results after a negative result of 2-step or couple antenatal…”
Get full text

Antenatal screening for carriers of cystic fibrosis: randomised trial of stepwise v couple screening by Miedzybrodzka, Zosia H, Hall, Marion H, Mollison, Jill, Templeton, Allan, Russell, Ian T, Dean, John C S, Kelly, Kevin F, Marteau, Theresa M, Haites, Neva E

“…Abstract Objective: To perform a rigorous comparative evaluation of stepwise and couple approaches to antenatal carrier screening for cystic fibrosis. Design:…”
Get full text

Evaluation of laboratory methods for cystic fibrosis carrier screening: reliability, sensitivity, specificity, and costs by Miedzybrodzka, Z H, Yin, Z, Kelly, K F, Haites, N E

“…We report a comparative evaluation of three different laboratory methods for screening large numbers of mouthwash DNA samples for common cystic fibrosis…”
Get full text

Cystic fibrosis screening policies by Hall, M H, Miedzybrodzka, Z H, Haites, N E, Dean, J C

Get more information

Severity of chest disease in CF patients in relation to their genotypes by Packe, G E, Miedzybrodzka, Z H, Dean, J C

Get full text

Prevalence of cystic fibrosis mutations in the Grampian region of Scotland by Miedzybrodzka, Z H, Dean, J C, Russell, G, Friend, J A, Kelly, K F, Haites, N E

“…We have identified all known sufferers of cystic fibrosis (CF) alive in the Grampian region, north east Scotland, on 1 January 1989. DNA samples were obtained…”
Get full text

Prenatal diagnosis for the cystic fibrosis mutation 1717-1, G-->A using arms by Miedzybrodzka, Z H, Kelly, K F, Davidson, M, Little, S, Shrimpton, A E, Dean, J C, Haites, N E

“…A family carrying two cystic fibrosis mutations, delta F508 and 1717-1, G-->A, requested prenatal diagnosis. In order to eliminate the need for labelling of…”
Get more information