Detalhe da pesquisa
1.
Survival and causes of death in patients with von Hippel-Lindau disease.
J Med Genet
; 54(1): 11-18, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27539272
2.
von Hippel-Lindau development in children and adolescents.
Am J Med Genet A
; 173(9): 2381-2394, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28650583
3.
Familial Colorectal Cancer Type X.
Curr Genomics
; 18(4): 341-359, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29081690
4.
Management of Gene Variants of Unknown Significance: Analysis Method and Risk Assessment of the VHL Mutation p.P81S (c.241C>T).
Curr Genomics
; 18(1): 93-103, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28503092
5.
Risk of new tumors in von Hippel-Lindau patients depends on age and genotype.
Genet Med
; 18(1): 89-97, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25834951
6.
von Hippel-Lindau disease: deafness due to a non-MRI-visible endolymphatic sac tumor despite targeted screening.
Int J Audiol
; 52(11): 771-5, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24003980
7.
Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial.
Lancet Oncol
; 13(12): 1242-9, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23140761
8.
Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial.
Lancet
; 378(9809): 2081-7, 2011 Dec 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-22036019
9.
Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome.
N Engl J Med
; 359(24): 2567-78, 2008 Dec 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-19073976
10.
A BRCA2 mutation incorrectly mapped in the original BRCA2 reference sequence, is a common West Danish founder mutation disrupting mRNA splicing.
Breast Cancer Res Treat
; 128(1): 179-85, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21184276
11.
von Hippel-Lindau disease: surveillance strategy for endolymphatic sac tumors.
Genet Med
; 13(12): 1032-41, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21912262
12.
Mosaicism in segmental Darier disease: an in-depth molecular analysis quantifying proportions of mutated alleles in various tissues.
Dermatology
; 222(4): 292-6, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21720150
13.
Genotype predicting phenotype in familial adenomatous polyposis: a practical application to the choice of surgery.
Dis Colon Rectum
; 52(7): 1259-63, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19571702
14.
Novel de novo BRCA2 mutation in a patient with a family history of breast cancer.
BMC Med Genet
; 9: 58, 2008 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-18597679
15.
BRCA1 and BRCA2 mutations in Danish families with hereditary breast and/or ovarian cancer.
Acta Oncol
; 47(4): 772-7, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18465347
16.
Risk of gynecologic cancers in Danish hereditary non-polyposis colorectal cancer families.
Acta Obstet Gynecol Scand
; 87(11): 1129-35, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18972272
17.
Retinal hemangioblastoma: prevalence, incidence and frequency of underlying von Hippel-Lindau disease.
Br J Ophthalmol
; 102(7): 942-947, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28972023
18.
Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH.
N Engl J Med
; 348(9): 791-9, 2003 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-12606733
19.
CHEK2 1100delC is prevalent in Swedish early onset familial breast cancer.
BMC Cancer
; 7: 163, 2007 Aug 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-17705858
20.
Germ line mutations of mismatch repair genes in hereditary nonpolyposis colorectal cancer patients with small bowel cancer: International Society for Gastrointestinal Hereditary Tumours Collaborative Study.
Clin Cancer Res
; 12(11 Pt 1): 3389-93, 2006 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16740762