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1.
Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey.
J Med Genet
; 61(4): 305-312, 2024 Mar 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-38154813
2.
UK recommendations for SDHA germline genetic testing and surveillance in clinical practice.
J Med Genet
; 60(2): 107-111, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-35260474
3.
Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996-2020: development of a national resource of patient-level genomics laboratory records.
J Med Genet
; 60(7): 669-678, 2023 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-36572524
4.
Management of patients with germline predisposition to haematological malignancies considered for allogeneic blood and marrow transplantation: Best practice consensus guidelines from the UK Cancer Genetics Group (UKCGG), CanGene-CanVar, NHS England Genomic Laboratory Hub (GLH) Haematological Malignancies Working Group and the British Society of Blood and Marrow Transplantation and cellular therapy (BSBMTCT).
Br J Haematol
; 201(1): 35-44, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36786081
5.
Germline predisposition to haematological malignancies: Best practice consensus guidelines from the UK Cancer Genetics Group (UKCGG), CanGene-CanVar and the NHS England Haematological Oncology Working Group.
Br J Haematol
; 201(1): 25-34, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36744544
6.
KIT-Associated Familial GIST Syndrome: Response to Tyrosine Kinase Inhibitors and Implications for Risk Management.
Oncologist
; 27(8): 615-620, 2022 08 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35791894
7.
A systematic review and meta-analysis of telephone vs in-person genetic counseling in BRCA1/BRCA2 genetic testing.
J Genet Couns
; 30(2): 563-573, 2021 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33131182
8.
Sleep disordered breathing in children with Down syndrome in the Republic of Ireland.
Am J Med Genet A
; 182(12): 2847-2856, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-32902194
9.
Non-syndromic bilateral ulnar aplasia with humero-radial synostosis and oligo-ectro-dactyly.
Am J Med Genet A
; 176(5): 1180-1183, 2018 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29427337
10.
Should All Individuals Be Screened for Genetic Predisposition to Cancer?
Genet Res (Camb)
; 2021: 6611963, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-33762893
11.
Diagnostic yield from cardiac gene testing for inherited cardiac conditions and re-evaluation of pre-ACMG variants of uncertain significance.
Ir J Med Sci
; 2024 Mar 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-38489124
12.
"Excuse me:" teaching interns to speak up.
Jt Comm J Qual Patient Saf
; 39(9): 426-31, 2013 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-24147354
13.
Assessing awareness of colorectal cancer symptoms and screening in a peripheral colorectal surgical unit: a survey based study.
BMC Surg
; 13: 20, 2013 Jun 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-23799887
14.
Characterization of sebaceous and non-sebaceous cutaneous manifestations in patients with lynch syndrome: a systematic review.
Fam Cancer
; 22(2): 167-175, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36418753
15.
Germline ATM Mutations Detected by Somatic DNA Sequencing in Lethal Prostate Cancer.
Eur Urol Open Sci
; 52: 72-78, 2023 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-37284046
16.
Uterine leiomyomatosis in adolescents and young adults (AYAs) may represent a narrow phenotypic variant of FH tumour predisposition syndrome.
Fam Cancer
; 21(3): 357-362, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-34519924
17.
Fibroadenoma in vulval ectopic breast tissue in a patient with PTEN Hamartoma Tumour Syndrome.
Fam Cancer
; 21(3): 363-368, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-34524588
18.
Postgraduate training in Cancer Genetics-a cross-specialty survey exploring experience of clinicians in Ireland.
Ir J Med Sci
; 191(3): 1427-1434, 2022 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-34195919
19.
A pilot of Blood-First diagnostic cell free DNA (cfDNA) next generation sequencing (NGS) in patients with suspected advanced lung cancer.
Lung Cancer
; 165: 34-42, 2022 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-35085982
20.
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.
Neurobiol Aging
; 106: 343.e1-343.e8, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34274155