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Extent of investigation and management of cases of 'unexplained' mismatch repair deficiency (u-dMMR): a UK Cancer Genetics Group consensus.
McVeigh TP, Monahan KJ, Christopher J, West N, Scott M, Murray J, Hanson H; UKCGG dMMR Consensus Meeting Attendees. McVeigh TP, et al. J Med Genet. 2024 Apr 6:jmg-2024-109886. doi: 10.1136/jmg-2024-109886. Online ahead of print. J Med Genet. 2024. PMID: 38531626
However, in most cases, it results from sporadic somatic events rather than hereditary factors. The term 'Lynch-like syndrome' (LLS) has been used to guide colorectal cancer surveillance for relatives of individuals with a dMMR tumour when somatic and germline genomic test …
However, in most cases, it results from sporadic somatic events rather than hereditary factors. The term 'Lynch-like syndrome' (LLS) …
Alternative cascade-testing protocols for identifying and managing patients with familial hypercholesterolaemia: systematic reviews, qualitative study and cost-effectiveness analysis.
Qureshi N, Woods B, Neves de Faria R, Saramago Goncalves P, Cox E, Leonardi Bee J, Condon L, Weng S, Akyea RK, Iyen B, Roderick P, Humphries SE, Rowlands W, Watson M, Haralambos K, Kenny R, Datta D, Miedzybrodzka Z, Byrne C, Kai J. Qureshi N, et al. Among authors: miedzybrodzka z. Health Technol Assess. 2023 Oct;27(16):1-140. doi: 10.3310/CTMD0148. Health Technol Assess. 2023. PMID: 37924278 Free PMC article.
The cost-effectiveness analysis required assumptions related to the long-term cardiovascular disease risk, the effect of treatment on cholesterol and the generalisability of estimates from the data sets. ...Combined approaches to contact relatives may be more suitable for …
The cost-effectiveness analysis required assumptions related to the long-term cardiovascular disease risk, the effect of treatment on …
Understanding how educational interventions improve treatment adherence in patients with familial hypercholesterolaemia: a systematic review.
Massey H, Jennings B, Miedzybrodzka Z. Massey H, et al. Among authors: miedzybrodzka z. J Community Genet. 2023 Feb;14(1):5-15. doi: 10.1007/s12687-022-00620-0. Epub 2022 Dec 13. J Community Genet. 2023. PMID: 36512192 Free PMC article.
Educational interventions improve short term treatment adherence in patients with FH. Successful interventions are those that involve the whole family, set practical problem solving tasks, and that use techniques to increase the patients self-efficacy. This should all be s …
Educational interventions improve short term treatment adherence in patients with FH. Successful interventions are those that involve …
Continuing the sequence? Towards an economic evaluation of whole genome sequencing for the diagnosis of rare diseases in Scotland.
Abbott M, McKenzie L, Moran BVG, Heidenreich S, Hernández R, Hocking-Mennie L, Clark C, Gomes J, Lampe A, Baty D, McGowan R, Miedzybrodzka Z, Ryan M. Abbott M, et al. Among authors: miedzybrodzka z. J Community Genet. 2022 Oct;13(5):487-501. doi: 10.1007/s12687-021-00541-4. Epub 2021 Aug 20. J Community Genet. 2022. PMID: 34415556 Free PMC article.
This will inform a user-perspective cost-benefit analysis of genome-wide sequencing, accounting for the broader non-health outcomes. Taken together, our research will inform the long-term strategic development of NHS Scotland clinical genetics testing services, and will be …
This will inform a user-perspective cost-benefit analysis of genome-wide sequencing, accounting for the broader non-health outcomes. Taken t …
Long-term cognitive outcomes in tuberous sclerosis complex.
Tye C, Mcewen FS, Liang H, Underwood L, Woodhouse E, Barker ED, Sheerin F, Yates JRW, Bolton PF; Tuberous Sclerosis 2000 Study Group. Tye C, et al. Dev Med Child Neurol. 2020 Mar;62(3):322-329. doi: 10.1111/dmcn.14356. Epub 2019 Sep 19. Dev Med Child Neurol. 2020. PMID: 31538337 Free PMC article.
AIM: To investigate the interdependence between risk factors associated with long-term intellectual development in individuals with tuberous sclerosis complex (TSC). ...Risk pathways through seizures in the first 2 years predict long-term cognitive outcomes in indiv …
AIM: To investigate the interdependence between risk factors associated with long-term intellectual development in individuals with t …
Meaningful and Measurable Health Domains in Huntington's Disease: Large-Scale Validation of the Huntington's Disease Health-Related Quality of Life Questionnaire Across Severity Stages.
Ho AK, Horton MC, Landwehrmeyer GB, Burgunder JM, Tennant A; European Huntington’s Disease Network. Ho AK, et al. Value Health. 2019 Jun;22(6):712-720. doi: 10.1016/j.jval.2019.01.016. Value Health. 2019. PMID: 31198189 Free article.
BACKGROUND: Although health-related quality of life is key for patients with long-term neurodegenerative conditions, measuring this is less straightforward and complex in Huntington's disease (HD). ...
BACKGROUND: Although health-related quality of life is key for patients with long-term neurodegenerative conditions, measuring this i …
A case-note review of continued pregnancies found to be at a high risk of Huntington's disease: considerations for clinical practice.
Wadrup F, Holden S, MacLeod R, Miedzybrodzka Z, Németh AH, Owens S, Pasalodos S, Quarrell O, Clarke AJ; UK Huntington’s Disease Predictive Testing Consortium. Wadrup F, et al. Among authors: miedzybrodzka z. Eur J Hum Genet. 2019 Aug;27(8):1215-1224. doi: 10.1038/s41431-019-0375-8. Epub 2019 Mar 19. Eur J Hum Genet. 2019. PMID: 30890781 Free PMC article. Review.
An ethical problem can arise after prenatal diagnosis for HD if a known 'high risk' pregnancy is continued to term: international guidelines emphasise that this situation should be avoided where possible, as it removes the resulting child's future right to make an informed …
An ethical problem can arise after prenatal diagnosis for HD if a known 'high risk' pregnancy is continued to term: international gui …
27 years of prenatal diagnosis for Huntington disease in the United Kingdom.
Piña-Aguilar RE, Simpson SA, Alshatti A, Clarke A, Craufurd D, Dorkins H, Doye K, Lahiri N, Lashwood A, Lynch C, Miller C, Morton S, O'Driscoll M, Quarrell OW, Rae D, Strong M, Tomlinson C, Turnpenny P, Miedzybrodzka Z; UK HD Predictive Testing Consortium. Piña-Aguilar RE, et al. Among authors: miedzybrodzka z. Genet Med. 2019 Jul;21(7):1639-1643. doi: 10.1038/s41436-018-0367-z. Epub 2018 Dec 14. Genet Med. 2019. PMID: 30546084 Free article.
PURPOSE: There is little long-term, population-based data on uptake of prenatal diagnosis for Huntington disease (HD), a late-onset autosomal dominant neurodegenerative disorder, and the effect of the availability of preimplantation genetic diagnosis (PGD) on families' dec …
PURPOSE: There is little long-term, population-based data on uptake of prenatal diagnosis for Huntington disease (HD), a late-onset a …
Parents' views of genetic testing and treatment of familial hypercholesterolemia in children: a qualitative study.
Keenan KF, Finnie RM, Simpson WG, McKee L, Dean J, Miedzybrodzka Z. Keenan KF, et al. Among authors: miedzybrodzka z. J Community Genet. 2019 Jan;10(1):129-141. doi: 10.1007/s12687-018-0373-5. Epub 2018 Jun 14. J Community Genet. 2019. PMID: 29949065 Free PMC article.
Importantly, some parents were concerned that inappropriate information had been shared with their children and wished that more time had been given to discuss how, when, and what to tell in advance. Future research is needed to explore the long-term outcomes for children …
Importantly, some parents were concerned that inappropriate information had been shared with their children and wished that more time had be …
BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years.
Robertson L, Hanson H, Seal S, Warren-Perry M, Hughes D, Howell I, Turnbull C, Houlston R, Shanley S, Butler S, Evans DG, Ross G, Eccles D, Tutt A, Rahman N; TNT Trial TMG; BCSC (UK). Robertson L, et al. Br J Cancer. 2012 Mar 13;106(6):1234-8. doi: 10.1038/bjc.2012.31. Epub 2012 Feb 14. Br J Cancer. 2012. PMID: 22333603 Free PMC article.
CONCLUSION: Women with TN breast cancer diagnosed below 50 years have >10% likelihood of carrying a BRCA1 mutation and are therefore eligible for testing in most centres. However, implementation may place short-term logistical and financial burdens on genetic services.. …
CONCLUSION: Women with TN breast cancer diagnosed below 50 years have >10% likelihood of carrying a BRCA1 mutation and are therefore elig …
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