Detalles de la búsqueda
1.
Cell-based non-invasive prenatal testing for monogenic disorders: confirmation of unaffected fetuses following preimplantation genetic testing.
J Assist Reprod Genet
; 38(8): 1959-1970, 2021 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-33677749
2.
A systematic review on concurrent aneuploidy screening and preimplantation genetic testing for hereditary disorders: What is the prevalence of aneuploidy and is there a clinical effect from aneuploidy screening?
Acta Obstet Gynecol Scand
; 99(6): 696-706, 2020 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32039470
3.
Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. A case report.
Hum Reprod
; 34(9): 1838-1846, 2019 09 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-31424080
4.
First reported adult patient with TARP syndrome: A case report.
Am J Med Genet A
; 176(12): 2915-2918, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-30462380
5.
Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients.
BMC Med Genet
; 14: 103, 2013 Oct 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-24090359
6.
Possible explanations for the common clinical familial hypercholesterolemia phenotypes in the Faroe Islands.
J Clin Lipidol
; 17(5): 633-642, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37482509
7.
Genetic predisposition and evolutionary traces of pediatric cancer risk: a prospective 5-year population-based genome sequencing study of children with CNS tumors.
Neuro Oncol
; 25(4): 761-773, 2023 04 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-35902210
8.
Biomedical informatics as support to individual healthcare in hereditary colon cancer: the Danish HNPCC system.
Hum Mutat
; 32(5): 551-6, 2011 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-21520332
9.
First reported CABP2-related non-syndromic hearing loss in Northern Europe.
Mol Genet Genomic Med
; 9(4): e1639, 2021 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33666369
10.
First reported case of Doyne honeycomb retinal dystrophy (Malattia Leventinese/autosomal dominant drusen) in Scandinavia.
Mol Genet Genomic Med
; 9(4): e1652, 2021 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33689237
11.
Genetic variants of glutathione S-transferases mu, theta, and pi display no susceptibility to inflammatory bowel disease in the Danish population.
Scand J Gastroenterol
; 45(9): 1068-75, 2010 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-20459366
12.
New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients.
Front Genet
; 11: 566266, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-33193653
13.
Detection of PMS2 Mutations by Screening Hereditary Nonpolyposis Colon Cancer Families from Denmark and Sweden.
Genet Test Mol Biomarkers
; 23(9): 688-695, 2019 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-31433215
14.
MSH6 mutations are frequent in hereditary nonpolyposis colorectal cancer families with normal pMSH6 expression as detected by immunohistochemistry.
Appl Immunohistochem Mol Morphol
; 20(5): 470-7, 2012 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-22495361
15.
Challenges in the identification of MSH6-associated colorectal cancer: rectal location, less typical histology, and a subset with retained mismatch repair function.
Am J Surg Pathol
; 35(9): 1391-9, 2011 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-21836479
16.
Common polymorphisms in the microsomal epoxide hydrolase and N-acetyltransferase 2 genes in association with inflammatory bowel disease in the Danish population.
Eur J Gastroenterol Hepatol
; 23(3): 269-74, 2011 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-21228703
17.
Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population.
Fam Cancer
; 8(1): 75-83, 2009.
Artículo
en Inglés
| MEDLINE | ID: mdl-18566915
18.
Functional characterization of rare missense mutations in MLH1 and MSH2 identified in Danish colorectal cancer patients.
Fam Cancer
; 8(4): 489-500, 2009.
Artículo
en Inglés
| MEDLINE | ID: mdl-19697156
19.
Benign course of long-standing hepatitis B virus infection among Greenland Inuit?
Scand J Gastroenterol
; 43(3): 334-43, 2008 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-18266176
20.
Mutations in CARD15 and smoking confer susceptibility to Crohn's disease in the Danish population.
Scand J Gastroenterol
; 42(12): 1445-51, 2007 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-17852840