Detalhe da pesquisa
1.
Expanding the understanding of telomere biology disorder with reports from two families harboring variants in ZCCHC8 and TERC.
Clin Genet
; 2024 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38606545
2.
Incidences of colorectal adenomas and cancers under colonoscopy surveillance suggest an accelerated "Big Bang" pathway to CRC in three of the four Lynch syndromes.
Hered Cancer Clin Pract
; 22(1): 6, 2024 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38741120
3.
Survival, surveillance, and genetics in patients with Peutz-Jeghers syndrome: A nationwide study.
Clin Genet
; 104(1): 81-89, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37017260
4.
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
5.
Clinical implications of genetic testing in familial intermediate and late-onset colorectal cancer.
Hum Genet
; 141(12): 1925-1933, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904628
6.
Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.
Genet Med
; 24(1): 119-129, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906479
7.
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
8.
Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report.
Hered Cancer Clin Pract
; 17: 8, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30858900
9.
First reported adult patient with TARP syndrome: A case report.
Am J Med Genet A
; 176(12): 2915-2918, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30462380
10.
Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.
Genet Med
; 24(10): 2208, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36205748
11.
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
12.
National clinical Genetic Networks - GENets - Establishment of expert collaborations in Denmark.
Eur J Med Genet
; 66(12): 104872, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37967791
13.
Familial colorectal cancer and tooth agenesis caused by an AXIN2 variant: how do we detect families with rare cancer predisposition syndromes?
Fam Cancer
; 21(3): 325-332, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34637023
14.
[Telomere biology disorders].
Ugeskr Laeger
; 184(28)2022 07 11.
Artigo
em Da
| MEDLINE | ID: mdl-35959813
15.
Distinct gastric phenotype in patients with pathogenic variants in SMAD4: A nationwide cross-sectional study.
Endosc Int Open
; 10(12): E1537-E1543, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36531685
16.
[New hereditary polyposis syndromes in the patient with intestinal polyps].
Ugeskr Laeger
; 183(38)2021 09 20.
Artigo
em Da
| MEDLINE | ID: mdl-34596519
17.
Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency.
Mol Genet Genomic Med
; 8(5): e1197, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32130795
18.
Unsolicited information letters to increase awareness of Lynch syndrome and familial colorectal cancer: reactions and attitudes.
Fam Cancer
; 18(1): 43-51, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29651783
19.
Exploring the hereditary background of renal cancer in Denmark.
PLoS One
; 14(4): e0215725, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31034483
20.
Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults: Recommendations for Genetic Diagnosis, Clinical Management and Follow-up.
Hemasphere
; 3(6): e321, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31976490