Detalhe da pesquisa
1.
Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant.
Breast Cancer Res
; 26(1): 6, 2024 01 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38195559
2.
Implementing MyChoice® CDx HRD testing for the Nordics: lessons from 2021 to 2023.
Acta Oncol
; 63: 70-75, 2024 Mar 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38482597
3.
Incidence and survival of primary metastatic breast cancer in Denmark; implication of breast cancer screening, classification, and staging practice.
Acta Oncol
; 63: 277-287, 2024 May 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38711384
4.
uPAR (PLAUR) Marks Two Intra-Tumoral Subtypes of Glioblastoma: Insights from Single-Cell RNA Sequencing.
Int J Mol Sci
; 25(4)2024 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38396677
5.
Multiple endocrine neoplasia type 1 (MEN-1) and neuroendocrine neoplasms (NENs).
Semin Cancer Biol
; 79: 141-162, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33905872
6.
Multiple endocrine neoplasia type 2: A review.
Semin Cancer Biol
; 79: 163-179, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33812987
7.
Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.
PLoS Genet
; 16(12): e1009231, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33332384
8.
Depth of Sequencing Plays a Determining Role in the Characterization of Phage Display Peptide Libraries by NGS.
Int J Mol Sci
; 24(6)2023 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36982469
9.
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Hum Mutat
; 43(12): 2308-2323, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36273432
10.
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.
Hum Mutat
; 43(12): 1921-1944, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35979650
11.
A catalog of curated breast cancer genes.
Breast Cancer Res Treat
; 191(2): 431-441, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34755241
12.
Collagen remodelling and plasma ascorbic acid levels in patients suspected of inherited bleeding disorders harbouring germline variants in collagen-related genes.
Haemophilia
; 27(1): e69-e77, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33161638
13.
Highly impaired platelet ultrastructure in two families with novel IKZF5 variants.
Platelets
; 32(4): 492-497, 2021 May 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-32419556
14.
A novel homozygous GFI1B variant in 2 sisters with thrombocytopenia and severe bleeding tendency.
Platelets
; 32(5): 701-704, 2021 Jul 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32633597
15.
Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants.
BMC Genomics
; 21(1): 86, 2020 Jan 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-31992191
16.
Breast cancer survival in Nordic BRCA2 mutation carriers-unconventional association with oestrogen receptor status.
Br J Cancer
; 123(11): 1608-1615, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32939053
17.
Induction of PIK3CA alterations during neoadjuvant letrozole may improve outcome in postmenopausal breast cancer patients.
Breast Cancer Res Treat
; 184(1): 123-133, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32748297
18.
Genetic screening of children with suspected inherited bleeding disorders.
Haemophilia
; 26(2): 314-324, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32100410
19.
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Nucleic Acids Res
; 46(15): 7913-7923, 2018 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29750258
20.
Long-term follow-up of RET Y791F carriers in Denmark 1994-2017: A National Cohort Study.
J Surg Oncol
; 119(6): 687-693, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30644554