Detalhe da pesquisa
1.
Identification of a novel pathogenic deep intronic variant in PTEN resulting in pseudoexon inclusion in a patient with juvenile polyps.
J Hum Genet
; 68(10): 721-724, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37336910
2.
Danish guidelines for management of non-APC-associated hereditary polyposis syndromes.
Hered Cancer Clin Pract
; 19(1): 41, 2021 Oct 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34620187
3.
Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report.
Hered Cancer Clin Pract
; 17: 28, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31636762
4.
Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study.
Fam Cancer
; 22(4): 429-436, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37354305
5.
PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants.
NPJ Breast Cancer
; 9(1): 37, 2023 May 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37173335
6.
The Prevalence of Pathogenic or Likely Pathogenic Germline Variants in a Nationwide Cohort of Young Colorectal Cancer Patients Using a Panel of 18 Genes Associated with Colorectal Cancer.
Cancers (Basel)
; 13(20)2021 Oct 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34680242
7.
Hereditary leiomyomatosis and renal cell carcinoma: a case series and literature review.
Orphanet J Rare Dis
; 16(1): 34, 2021 01 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33461594
8.
[New hereditary polyposis syndromes in the patient with intestinal polyps].
Ugeskr Laeger
; 183(38)2021 09 20.
Artigo
em Dinamarquês
| MEDLINE | ID: mdl-34596519
9.
Erratum: Publisher Correction: Homologous recombination DNA repair defects in PALB2-associated breast cancers.
NPJ Breast Cancer
; 5: 44, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31754629
10.
Homologous recombination DNA repair defects in PALB2-associated breast cancers.
NPJ Breast Cancer
; 5: 23, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31428676