Detalles de la búsqueda
1.
Prenatal diagnosis of a 46,XY karyotype female fetus with an SRY-associated gonadal dysgenesis, conceived through an intracytoplasmic sperm injection: a case report.
BMC Pregnancy Childbirth
; 22(1): 105, 2022 Feb 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35123446
2.
Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia.
Genet Med
; 21(5): 1173-1180, 2019 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30270359
3.
Polygenic prediction of breast cancer: comparison of genetic predictors and implications for risk stratification.
BMC Cancer
; 19(1): 557, 2019 Jun 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-31182048
4.
Creating basis for introducing non-invasive prenatal testing in the Estonian public health setting.
Prenat Diagn
; 39(13): 1262-1268, 2019 12.
Artículo
en Alemán
| MEDLINE | ID: mdl-31691324
5.
Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci.
Int J Cancer
; 142(3): 540-546, 2018 02 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-28960316
6.
Somatic mosaicism for copy-neutral loss of heterozygosity and DNA copy number variations in the human genome.
BMC Genomics
; 16: 703, 2015 Sep 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-26376747
7.
Tissue-specific mitochondrial heteroplasmy at position 16,093 within the same individual.
Curr Genet
; 60(1): 11-6, 2014 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-23842853
8.
Implementation of Risk-Stratified Breast Cancer Prevention With a Polygenic Risk Score Test in Clinical Practice.
Breast Cancer (Auckl)
; 17: 11782234231205700, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37842230
9.
The Prevalence and Molecular Landscape of Lynch Syndrome in the Affected and General Population.
Cancers (Basel)
; 15(14)2023 Jul 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-37509324
10.
Lessons learned during the process of reporting individual genomic results to participants of a population-based biobank.
Eur J Hum Genet
; 31(9): 1048-1056, 2023 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-36192438
11.
Identification of miR-374a as a prognostic marker for survival in patients with early-stage nonsmall cell lung cancer.
Genes Chromosomes Cancer
; 50(10): 812-22, 2011 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-21748820
12.
Spectrum and frequency of CHEK2 variants in breast cancer affected and general population in the Baltic states region, initial results and literature review.
Eur J Med Genet
; 65(5): 104477, 2022 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-35314380
13.
Do Biobank Recall Studies Matter? Long-Term Follow-Up of Research Participants With Familial Hypercholesterolemia.
Front Genet
; 13: 936131, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35928446
14.
Precise, Genotype-First Breast Cancer Prevention: Experience With Transferring Monogenic Findings From a Population Biobank to the Clinical Setting.
Front Genet
; 13: 881100, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35938029
15.
Novel polymorphic AluYb8 insertion in the WNK1 gene is associated with blood pressure variation in Europeans.
Hum Mutat
; 32(7): 806-14, 2011 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-21520334
16.
Association analysis of juvenile idiopathic arthritis genetic susceptibility factors in Estonian patients.
Clin Rheumatol
; 40(10): 4157-4165, 2021 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-34101054
17.
From late fatherhood to prenatal screening of monogenic disorders: evidence and ethical concerns.
Hum Reprod Update
; 27(6): 1056-1085, 2021 10 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-34329448
18.
Genotype-first approach to the detection of hereditary breast and ovarian cancer risk, and effects of risk disclosure to biobank participants.
Eur J Hum Genet
; 29(3): 471-481, 2021 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-33230308
19.
Hypervariable intronic region in NCX1 is enriched in short insertion-deletion polymorphisms and showed association with cardiovascular traits.
BMC Med Genet
; 11: 15, 2010 Jan 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-20109173
20.
Molecular diagnosis of Down syndrome using quantitative APEX-2 microarrays.
Prenat Diagn
; 30(12-13): 1170-7, 2010 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-20949644