Browsing Other ICR Research by author "McVeigh, Terri"
Now showing items 1-6 of 6
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A clinical, molecular genetics and pathological study of a FTDP-17 family with a heterozygous splicing variant c.823-10G>T at the intron 9/exon 10 of the MAPT gene.
Olszewska, DA; Fearon, C; McGuigan, C; McVeigh, TP; Houlden, H; et al. (ELSEVIER SCIENCE INC, 2021-10-01)We report the first clinical-radiological-genetic-molecular-pathological study of a kindred with c.823-10G>T MAPT intronic variant (rs63749974) associated with frontotemporal dementia and parkinsonism linked to chromosome ... -
Effectiveness of contrast-associated acute kidney injury prevention methods; a systematic review and network meta-analysis.
Ahmed, K; McVeigh, T; Cerneviciute, R; Mohamed, S; Tubassam, M; et al. (BMC, 2018-11-13)BACKGROUND: Different methods to prevent contrast-associated acute kidney injury (CA-AKI) have been proposed in recent years. We performed a mixed treatment comparison to evaluate and rank suggested interventions. METHODS: ... -
Embryonal Rhabdomyosarcoma of the Ovary and Fallopian Tube: Rare Neoplasms Associated With Germline and Somatic DICER1 Mutations.
McCluggage, WG; Apellaniz-Ruiz, M; Chong, A-L; Hanley, KZ; Velázquez Vega, JE; et al. (LIPPINCOTT WILLIAMS & WILKINS, 2020-06-01)DICER1 mutations (somatic or germline) are associated with a variety of uncommon neoplasms including cervical and genitourinary embryonal rhabdomyosarcoma (ERMS). We report a primary ovarian and 2 primary fallopian tube ... -
Genetic Testing for Cancer Predisposition Syndromes in Adolescents and Young Adults (AYAs)
Cullinan, N; Capra, M; McVeigh, TP (SPRINGERNATURE, 2020-06-01) -
MUTYH-Associated Polyposis: The Irish Experience>.
McVeigh, TP; Duff, M; Carroll, C; O'Shea, R; Bradley, L; et al. (2016-12-12)MUTYH is involved in DNA damage repair. Bi-allelic MUTYH mutations predispose to polyposis and gastrointestinal malignancies, distinct genetically from autosomal dominant familial adenomatous polyposis coli. Two common ... -
Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey.
Allen, S; Loong, L; Garrett, A; Torr, B; Durkie, M; et al. (BMJ PUBLISHING GROUP, 2024-03-21)BACKGROUND: National and international amalgamation of genomic data offers opportunity for research and audit, including analyses enabling improved classification of variants of uncertain significance. Review of individual-level ...