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26 results on '"Wallace, A.J."'

1. Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK)

Author

Turnbull, C., Garrett, A., Loong, L., Choi, S., Torr, B., Allen, S., Durkie, M., Callaway, A., Drummond, J., Burghel, G.J., Robinson, R., Berry, I.R., Wallace, A.J., Eccles, D.M., Tischkowitz, M., Ellard, S., Hanson, H., Baple, E., Evans, D.G., Woodward, E., Lalloo, F., Samant, S., Lucassen, A., Znaczko, A., Shaw, A., Ansari, A., Kumar, A., Donaldson, A., Murray, A., Ross, A., Taylor-Beadling, A., Taylor, A., Innes, A., Brady, A., Kulkarni, A., Hogg, A.C., Bowden, A. Ramsay, Hadonou, A., Coad, B., McIldowie, B., Speight, B., DeSouza, B., Mullaney, B., McKenna, C., Brewer, C., Olimpio, C., Clabby, C., Crosby, C., Jenkins, C., Armstrong, C., Bowles, C., Brooks, C., Byrne, C., Maurer, C., Baralle, D., Chubb, D., Stobo, D., Moore, D., O'Sullivan, D., Donnelly, D., Randhawa, D., Halliday, D., Atkinson, E., Rauter, E., Johnston, E., Maher, E., Sofianopoulou, E., Petrides, E., McRonald, F., Pelz, F., Frayling, I., Corbett, G., Rea, G., Clouston, H., Powell, H., Williamson, H., Carley, H., Thomas, H.J.W., Tomlinson, I., Cook, J., Hoyle, J., Tellez, J., Whitworth, J., Williams, J., Murray, J., Campbell, J., Tolmie, J., Field, J., Mason, J., Burn, J., Bruty, J., Callaway, J., Grant, J., Del Rey Jimenez, J., Pagan, J., VanCampen, J., Barwell, J., Monahan, K., Tatton-Brown, K., Ong, K.R., Murphy, K., Andrews, K., Mokretar, K., Cadoo, K., Smith, K., Baker, K., Brown, K., Reay, K., McKay Bounford, K., Bradshaw, K., Russell, K., Stone, K., Snape, K., Crookes, L., Reed, L., Taggart, L., Yarram, L., Cobbold, L., Walker, L., Hawkes, L., Busby, L., Izatt, L., Kiely, L., Hughes, L., Side, L., Sarkies, L., Greenhalgh, K.-L., Shanmugasundaram, M., Duff, M., Bartlett, M., Watson, M., Owens, M., Bradford, M., Huxley, M., Slean, M., Ryten, M., Smith, M., Ahmed, M., Roberts, N., O'Brien, C., Middleton, O., Tarpey, P., Logan, P., Dean, P., May, P., Brace, P., Tredwell, R., Harrison, R., Hart, R., Kirk, R., Martin, R., Nyanhete, R., Wright, R., Davidson, R., Cleaver, R., Talukdar, S., Butler, S., Sampson, J., Ribeiro, S., Dell, S., Mackenzie, S., Hegarty, S., Albaba, S., McKee, S., Palmer-Smith, S., Heggarty, S., MacParland, S., Greville-Heygate, S., Daniels, S., Prapa, S., Abbs, S., Tennant, S., Hardy, S., MacMahon, S., McVeigh, T., Foo, T., Bedenham, T., Cranston, T., McDevitt, T., Clowes, V., Tripathi, V., McConnell, V., Woodwaer, N., Wallis, Y., Kemp, Z., Mullan, G., Pierson, L., Rainey, L., Joyce, C., Timbs, A., Reuther, A.-M., Frugtniet, B., Husher, C., Lawn, C., Corbett, C., Nocera-Jijon, D., Reay, D., Cross, E., Ryan, F., Lindsay, H., Oliver, J., Dring, J., Spiers, J., Harper, J., Ciucias, K., Connolly, L., Tsang, M., Brown, R., Shepherd, S., Begum, S., Tadiso, T., Linton-Willoughby, T., Heppell, H., Sahan, K., Worrillow, L., Allen, Z., Watt, C., Hegarty, M., Mitchell, R., Coles, R., Nickless, G., Cojocaru, E., Doal, I., Sava, F., McCarthy, C., Jeeneea, R., Goudie, D., McConachie, M., Botosneanu, S., Kavanaugh, G., Sherlaw, C., Tsoulaki, O., Forde, C., Petley, E., Jones, A.-B., Oprych, K., Pryde, S., Hyder, Z., Elkhateeb, N., Braham, R., Hanington, L., Huntley, C., Irving, R., Sadan, A., Ramos, M., Elliot, C., Wren, D., Lobo, D., McLean, J., May, D., Kearney, L., Campbell, T., Asakura, K., Alwadi, L., O’Shea, R., Gabriel, J., Chiecchio, L., Bowman, P., Sutton, L.A., Walsh, C., Cloke, V., Ucanok, D., Davies, J., Pleasance, B., Maguire, E., Whaite, A., Best, S., Westbury, S., Logan, A., Navarajasegaran, D., Bench, A., Wightman, P., Cartwright, A., Higgs, E., J.Bott, Whitehouse, H., Stevens, J., Martin, D., Dunlop, J., Thomas, S., Sau, C., Farndon, S., Coleman, N., Angelini, P., Massey, H., Rowlands, C., Garcia-Petit, C., Gillespie, K., Alder, A., Middleton, E., Cassidy, C., Orfali, N., Webb, A., Luharia, A., Walker, N., Charlton, J., Andreou, A., Peddie, J., Khan, M., Wilkinson, L., Bezuidenhout, H., Edis, M., Callard, A., Ostrowski, P., Moverley, P., Bean, K., Dunne, A., Moleirinho, A., Waller, S., Cox, K., Greensmith, L., Brittle, A., Gossan, N., Freestone, L., Shak, C., Langford, T., Clinch, Y., Livesey, H., Borland, S., Joshi, A., Wall, K., Whitworth, A., Wilsdon, A., Edgerley, K., Pugh, S., Chrysochoidi, N., Mutch, S., McMullan, C., Johnston, Y., Muraru, M., May, A., Begum, R., Smith, C., Patel, R., Bhatnagar, I., Brown, D., Willan, J., Taylor, S., Jones, K., Ramsden, C., Taiwo, O., Jaudzemaite, J., Sharmin, R., Young, L., C.O’Dubhshlaine, McSorley, L., Rodriguez, I. Abreu, Lillis, S., Alexopoulos, P., Mortensson, E., Kingham, L., Moore, R., Kosicka-Slawinska, M., Aslam, S., Wells, R., Carter, A., Warren, H., Rolf, E., Reed, H., Pearce, L., Lock, D., Ali, F., Kolozi, A., White, N., Wood, D., Hayden, C., Garrett, Alice, Allen, Sophie, Durkie, Miranda, Burghel, George J., Robinson, Rachel, Callaway, Alison, Field, Joanne, Frugtniet, Bethan, Palmer-Smith, Sheila, Grant, Jonathan, Pagan, Judith, McDevitt, Trudi, Rowlands, Charlie F., McVeigh, Terri, Hanson, Helen, and Turnbull, Clare

Published
2024
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2. 731P Multi-maintenance olaparib in relapsed, platinum-sensitive BRCA-mutant high-grade serous ovarian carcinoma (MOLTO): A phase II feasibility study

Author

Morgan, R.D., primary, Clamp, A.R., additional, Ryder, W.D.J., additional, Wheeler, C., additional, Buckley, E., additional, Truelove, J., additional, Murphy, A.D., additional, Hasan, J., additional, Mitchell, C.L., additional, Burghel, G.J., additional, White, D., additional, Price, M., additional, Bhaskar, S.S., additional, Shaw, J., additional, Dive, C., additional, Wallace, A.J., additional, O'Connor, J.P., additional, Rothwell, D., additional, Edmondson, R.J., additional, and Jayson, G.C., additional

Published
2021
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3. The effect of meals rich in thermally stressed olive and safflower oils on postprandial serum paraoxonase activity in patients with diabetes

Author

Wallace, A.J., Sutherland, W.H.F., Mann, J.I., and Williams, S.M.

Abstract

Objective: To determine the effects of meals rich in thermally stressed safflower (TSAF) and olive (TSOL) oils on postprandial serum paraoxonase (PONI) arylesterase activity and low density lipoprotein (LDL) oxidation in patients with type 2 diabetes. Design: A randomised cross-over study. Setting: Diabetes clinic and general practice. Subjects: Fourteen patients (six men and eight women) with type 2 diabetes, aged 48-67y, glycated haemoglobin < 10% and fasting blood glucose < 11 mmol/l were recruited. Interventions: Patients received a milkshake rich in TSAF or TSOL and at least a week later they received the alternate milkshake. These fats contained high levels of lipid oxidation and degradation products. Blood samples were taken fasted and 4 h after consumption of the milkshake. Main outcome measures: Serum PON1 activity and lag time in LDL oxidation. Results: After the meal rich in TSOL, serum PON1 activity increased significantly in women (12 (2.22)pmol/ml/min, mean (95% confidence interval), P=0.03) and not in men (0(-4.4) [micro]mol/ml/min) during the postprandial period. The increase in PON1 activity after the TSOL meal was significantly (P=0.03) greater in women compared with men. In women, the increase in serum PON1 activity after the TSOL meal was significantly different (13 (1.25) [micro]mol/ml/min, P=0.04) compared with the corresponding change (- 11 [micro]mol/ml/min) after the TSAF meal. The lag time in LDL oxidation and indices of oxidative stress and antioxidant capacity did not vary significantly during the meals. Conclusions: Meals rich in TSOL may increase postprandial serum PON1 activity in middle-aged and older diabetic women. This change is potentially anti-atherogenic and may favour the use of olive oil over polyunsaturated fats in the diet of patients with type 2 diabetes. Sponsorship: The study was supported by a grant from the National Heart Foundation of New Zealand. Descriptors: paraoxonase; diabetes; oxidative stress; heated olive and safflower oils; postprandial, Introduction Human serum paraoxonase (PON1) is an esterase that is associated with high density lipoproteins (HDL) in the blood and hydrolyses organophosphates (eg paraoxon), aryl esters, oxidised phospholipids and cholesteryl [...]

Published
2001

5. Somatic mosaicism: a common cause of classic disease in tumor-prone syndromes? Lessons from type 2 neurofibromatosis

Author

Evans, D.G.R., Wallace, A.J., Wu, C.L., Trueman, L., Ramsden, R.T., and Strachan, T.

Subjects
Mosaicism -- Research, Neurofibromatosis -- Genetic aspects, Biological sciences
Abstract

Classic neurofibromatosis type 2 (NF2) may commonly be caused by somatic mosaicism, which would account for the low rate at which mutations have been detected in sporadic cases. In a study of blood samples from 125 families with NF2, causative mutations were found for 52 of the families. Mutations were identified for 34% of sporadic cases and 54% of familial cases.

Published
1998

8. Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2

Author

Tsilchorazidou, T., Menko, F.H., Lalloo, F., Kidd, A., De Silva, R., Thomas, H., Smith, P., Malcolmson, A., Dore, J., Madan, K., Brown, A., Yovos, J.G., Tsaligopoulos, M., Vogiatzis, N., Baser, M.E., Wallace, A.J., and Evans, D.G.R.

Subjects
Tumors -- Diagnosis, Tumors -- Case studies, Tumors -- Genetic aspects, Neurofibromatosis -- Diagnosis, Neurofibromatosis -- Case studies, Neurofibromatosis -- Genetic aspects, Chromosomes, Health
Published
2004

9. Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring. (Letter to JMG)

Author

Moyhuddin, A., Baser, M.E., Watson, C., Purcell, S., Ramsden, R.T., Heiberg, A., Wallace, A.J., and Evans, D.G.R.

Subjects
Mosaicism -- Genetic aspects, Neurofibromatosis -- Genetic aspects, Genetic screening -- Evaluation -- Genetic aspects, Health, Evaluation, Genetic aspects
Abstract

Neurofibromatosis 2 (NF2), an autosomal dominant disorder that is characterised by tumours of cells of neural crest origin, is caused by inactivating mutations of the NF2 gene on chromosome 22q12. [...]

Published
2003

10. Incidence of tumour BRCA1/2 variants in relapsed, platinum-sensitive ovarian, fallopian tube and primary peritoneal cancer

Author

Morgan, R.D., primary, Bulman, M., additional, Clamp, A.R., additional, MacMohon, S., additional, Thompson, L., additional, Ribeiro, S., additional, Davies, A., additional, Best, R., additional, Palmer-Smith, S., additional, Frugtniet, B., additional, Evans, D.G.R., additional, Jayson, G.C., additional, and Wallace, A.J., additional

Published
2019
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13. Genotype-phenotype correlations for cataracts in neurofibromatosis 2

Author

Baser, M.E., Kuramoto, L., Joe, H., Friedman, J.M., Wallace, A.J., Ramsden, R.T., and Evans, D.G.R.

Subjects
Gene mutations -- Physiological aspects -- Health aspects -- Research -- Analysis -- Genetic aspects, Genetic research -- Analysis -- Physiological aspects -- Genetic aspects -- Health aspects, Patients -- Genetic aspects -- Health aspects -- Care and treatment -- Physiological aspects -- Research -- Analysis, Tumor suppressor genes -- Health aspects -- Physiological aspects -- Analysis -- Research -- Genetic aspects, Medical genetics -- Research -- Health aspects -- Analysis -- Physiological aspects, Neurofibromatosis -- Genetic aspects -- Health aspects -- Care and treatment -- Causes of -- Research, Genotype -- Physiological aspects -- Health aspects -- Research -- Analysis -- Genetic aspects, Phenotype -- Genetic aspects -- Physiological aspects -- Research -- Health aspects -- Analysis, Health, Care and treatment, Physiological aspects, Analysis, Genetic aspects, Research, Health aspects, Causes of
Abstract

J Med Genet 2003;40:758-760 Neurofibromatosis 2 (NF2) is an autosomal dominant disease that is caused by inactivating mutations of the NF2 tumour suppressor gene. (1 2) Multiple central and peripheral [...]

Published
2003

14. Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK)

Author

Garrett, Alice, Allen, Sophie, Durkie, Miranda, Burghel, George J., Robinson, Rachel, Callaway, Alison, Field, Joanne, Frugtniet, Bethan, Palmer-Smith, Sheila, Grant, Jonathan, Pagan, Judith, McDevitt, Trudi, Rowlands, Charlie F., McVeigh, Terri, Hanson, Helen, Turnbull, Clare, Turnbull, C., Garrett, A., Loong, L., Choi, S., Torr, B., Allen, S., Durkie, M., Callaway, A., Drummond, J., Burghel, G.J., Robinson, R., Berry, I.R., Wallace, A.J., Eccles, D.M., Tischkowitz, M., Ellard, S., Hanson, H., Baple, E., Evans, D.G., Woodward, E., Lalloo, F., Samant, S., Lucassen, A., Znaczko, A., Shaw, A., Ansari, A., Kumar, A., Donaldson, A., Murray, A., Ross, A., Taylor-Beadling, A., Taylor, A., Innes, A., Brady, A., Kulkarni, A., Hogg, A.C., Bowden, A. Ramsay, Hadonou, A., Coad, B., McIldowie, B., Speight, B., DeSouza, B., Mullaney, B., McKenna, C., Brewer, C., Olimpio, C., Clabby, C., Crosby, C., Jenkins, C., Armstrong, C., Bowles, C., Brooks, C., Byrne, C., Maurer, C., Baralle, D., Chubb, D., Stobo, D., Moore, D., O'Sullivan, D., Donnelly, D., Randhawa, D., Halliday, D., Atkinson, E., Rauter, E., Johnston, E., Maher, E., Sofianopoulou, E., Petrides, E., McRonald, F., Pelz, F., Frayling, I., Corbett, G., Rea, G., Clouston, H., Powell, H., Williamson, H., Carley, H., Thomas, H.J.W., Tomlinson, I., Cook, J., Hoyle, J., Tellez, J., Whitworth, J., Williams, J., Murray, J., Campbell, J., Tolmie, J., Field, J., Mason, J., Burn, J., Bruty, J., Callaway, J., Grant, J., Del Rey Jimenez, J., Pagan, J., VanCampen, J., Barwell, J., Monahan, K., Tatton-Brown, K., Ong, K.R., Murphy, K., Andrews, K., Mokretar, K., Cadoo, K., Smith, K., Baker, K., Brown, K., Reay, K., McKay Bounford, K., Bradshaw, K., Russell, K., Stone, K., Snape, K., Crookes, L., Reed, L., Taggart, L., Yarram, L., Cobbold, L., Walker, L., Walker, L., Hawkes, L., Busby, L., Izatt, L., Kiely, L., Hughes, L., Side, L., Sarkies, L., Greenhalgh, K.-L., Shanmugasundaram, M., Duff, M., Bartlett, M., Watson, M., Owens, M., Bradford, M., Huxley, M., Slean, M., Ryten, M., Smith, M., Ahmed, M., Roberts, N., O'Brien, C., Middleton, O., Tarpey, P., Logan, P., Dean, P., May, P., Brace, P., Tredwell, R., Harrison, R., Hart, R., Kirk, R., Martin, R., Nyanhete, R., Wright, R., Martin, R., Davidson, R., Cleaver, R., Talukdar, S., Butler, S., Sampson, J., Ribeiro, S., Dell, S., Mackenzie, S., Hegarty, S., Albaba, S., McKee, S., Palmer-Smith, S., Heggarty, S., MacParland, S., Greville-Heygate, S., Daniels, S., Prapa, S., Abbs, S., Tennant, S., Hardy, S., MacMahon, S., McVeigh, T., Foo, T., Bedenham, T., Cranston, T., McDevitt, T., Clowes, V., Tripathi, V., McConnell, V., Woodwaer, N., Wallis, Y., Kemp, Z., Mullan, G., Pierson, L., Rainey, L., Joyce, C., Timbs, A., Reuther, A.-M., Frugtniet, B., DeSouza, B., Husher, C., Lawn, C., Corbett, C., Nocera-Jijon, D., Reay, D., Cross, E., Ryan, F., Lindsay, H., Oliver, J., Dring, J., Spiers, J., Harper, J., Ciucias, K., Connolly, L., Tsang, M., Brown, R., Shepherd, S., Begum, S., Daniels, S., Tadiso, T., Linton-Willoughby, T., Heppell, H., Sahan, K., Worrillow, L., Allen, Z., Watt, C., Hegarty, M., Mitchell, R., Coles, R., Nickless, G., Cojocaru, E., Doal, I., Sava, F., McCarthy, C., Jeeneea, R., Goudie, D., McConachie, M., Botosneanu, S., Kavanaugh, G., Russell, K., Sherlaw, C., Tsoulaki, O., Forde, C., Petley, E., Jones, A.-B., Oprych, K., Pryde, S., Hyder, Z., Elkhateeb, N., Braham, R., Hanington, L., Huntley, C., Irving, R., Sadan, A., Ramos, M., Elliot, C., Wren, D., Lobo, D., McLean, J., May, D., Kearney, L., Campbell, T., Asakura, K., Alwadi, L., O’Shea, R., Gabriel, J., Chiecchio, L., Bowman, P., Sutton, L.A., Walsh, C., Cloke, V., Ucanok, D., Davies, J., Pleasance, B., Maguire, E., Whaite, A., Best, S., Westbury, S., Logan, A., Navarajasegaran, D., Bench, A., Wightman, P., Cartwright, A., Higgs, E., J.Bott, Whitehouse, H., Stevens, J., Martin, D., Dunlop, J., Thomas, S., Sau, C., Farndon, S., Coleman, N., Angelini, P., Duff, M., Massey, H., Rowlands, C., Garcia-Petit, C., Gillespie, K., Alder, A., Middleton, E., Cassidy, C., Orfali, N., Webb, A., Luharia, A., Walker, N., Charlton, J., Andreou, A., Peddie, J., Khan, M., Wilkinson, L., Bezuidenhout, H., Edis, M., Callard, A., Ostrowski, P., Moverley, P., Bean, K., Dunne, A., Moleirinho, A., Waller, S., Cox, K., Greensmith, L., Brittle, A., Gossan, N., Freestone, L., Shak, C., Langford, T., Clinch, Y., Livesey, H., Borland, S., Joshi, A., Wall, K., Whitworth, A., Wilsdon, A., Edgerley, K., Pugh, S., Chrysochoidi, N., Mutch, S., McMullan, C., Johnston, Y., Muraru, M., May, A., Begum, R., Smith, C., Patel, R., Bhatnagar, I., Taylor, A., Brown, D., Willan, J., Taylor, S., Jones, K., Cox, K., Ramsden, C., Taiwo, O., Jaudzemaite, J., Sharmin, R., Young, L., C.O’Dubhshlaine, McSorley, L., Rodriguez, I. Abreu, Lillis, S., Alexopoulos, P., Mortensson, E., Kingham, L., Moore, R., Kosicka-Slawinska, M., Aslam, S., Wells, R., Carter, A., Warren, H., Rolf, E., Reed, H., Pearce, L., Lock, D., Ali, F., Kolozi, A., White, N., Wood, D., and Hayden, C.

Abstract

Current practice is to report and manage likely pathogenic/pathogenic variants in a given cancer susceptibility gene as though having equivalent penetrance, despite increasing evidence of intervariant variability in risk associations. Using existing variant interpretation approaches, largely based on full-penetrance models, variants in which reduced penetrance is suspected may be classified inconsistently and/or as variants of uncertain significance. We aimed to develop a national consensus approach for such variants within the Cancer Variant Interpretation Group UK (CanVIG-UK) multidisciplinary network.

Published
2024
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16. A Nine Culture Study of Work Stressors and Outcomes

Author

Maignan, I.S.J., Perrewe, P.L., Ralston, D., Rossi, A.M., Westman, M., Vollmer, G., Tang, M., Wan, P., Wallace, A.J., van Deusen, C., Information, Marketing and Logistics, and Management and Organisation

Published
2002

18. Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only

Author

Evans, D.G., primary, Bowers, N., additional, Burkitt-Wright, E., additional, Miles, E., additional, Garg, S., additional, Scott-Kitching, V., additional, Penman-Splitt, M., additional, Dobbie, A., additional, Howard, E., additional, Ealing, J., additional, Vassalo, G., additional, Wallace, A.J., additional, Newman, W., additional, and Huson, S.M., additional

Published
2016
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23. Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2.

Author

Tsilchorozidou, T., Yovos, J.G., Menko, F.H., Madan, K., Lalloo, F., Smith, P., Malcolmson, A., Dore, J., Wallace, A.J., Evans, D.G.R., De Silva, R., Thomas, H., Tsaligopoulos, M., Vogiatzis, N., Kidd, A., and Brown, A.

Subjects
CHROMOSOMES, NEUROFIBROMATOSIS, ACOUSTIC neuroma, ACOUSTIC tumors, PATHOLOGY, GENETICS
Abstract

Discusses the constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2. Description of neurofibromatosis type 2 as an autosomal dominant condition characterized by vestibular schwannomas; Consideration of chromosoal rearrangements; Symptomatic clinical abnormalities.

Published
2004
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26. A New Diagnostic Service For Rate Inherited Diseases.

Author

Marchbank, Nicola, Wallace, A.J., and Elles, R.G.

Subjects
GENETIC disorders, GENETIC mutation, NUCLEOTIDE sequence
Abstract

Purpose: As part of the National Genetics Reference Laboratory (NGRL) programme, a new rare disease testing service has been developed. The purpose of this service is to confirm mutations identified by research laboratories to diagnostic standards in order to provide predictive, pre-natal and carrier testing within the extended family, for genetic conditions not offered by the UK Genetic Testing Network (UKGTN). Method: The service will initially focus on point mutation testing (single base substitutions, deletions/duplications of a known number of nucleotides). In order to provide a fast and effective service, a generic sequencing methodology has been developed. All disease specific primers incorporate a universal tag and have a Tm close to 60 degrees C enabling multiple tests to be carried out using the same conditions. Results: The service was launched in May 2003. A down-loadable pro-forma for mutation testing has been designed and is available from www.ngrl.org.uk/Manchester/NGRLMhome.htm. Referrals must be made via a clinical geneticist and are currently being accepted. A review of the workload, referral patterns and effectiveness of the service will be presented. Conclusion: This service is important for individuals at risk of a monogenic disorder that has not made the transition from research to service due to the low incidence of the disease. As part of the development of the service, testing for large deletions/duplications is planned. [ABSTRACT FROM AUTHOR]

Published
2003

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