Detalles de la búsqueda
1.
The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2.
Genet Med
; 26(5): 101101, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38362852
2.
Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands.
Eur J Pediatr
; 182(6): 2683-2692, 2023 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-36997769
3.
Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging.
Prenat Diagn
; 40(8): 972-983, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32333414
4.
How to inform at-risk relatives? Attitudes of 1379 Dutch patients, relatives, and members of the general population.
J Genet Couns
; 29(5): 786-799, 2020 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-31889383
5.
Somatic Nonepigenetic Mismatch Repair Gene Aberrations Underly Most Mismatch Repair-Deficient Lynch-Like Tumors.
Gastroenterology
; 160(4): 1414-1416.e3, 2021 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-33253688
6.
Serum AMH levels in healthy women from BRCA1/2 mutated families: are they reduced?
Hum Reprod
; 31(11): 2651-2659, 2016 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-27907901
7.
High Satisfaction and Low Distress in Breast Cancer Patients One Year after BRCA-Mutation Testing without Prior Face-to-Face Genetic Counseling.
J Genet Couns
; 25(3): 504-14, 2016 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-26531312
8.
Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in Lynch syndrome-like tumors.
Gastroenterology
; 146(3): 643-646.e8, 2014 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-24333619
9.
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases.
Hum Mutat
; 34(12): 1721-6, 2013 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-24123792
10.
Focusing on patient needs and preferences may improve genetic counseling for colorectal cancer.
J Genet Couns
; 22(1): 118-24, 2013 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-22914993
11.
Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease.
Front Genet
; 14: 1304520, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-38259611
12.
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
HGG Adv
; 4(2): 100181, 2023 04 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-36785559
13.
DNA-testing for BRCA1/2 prior to genetic counselling in patients with breast cancer: design of an intervention study, DNA-direct.
BMC Womens Health
; 12: 12, 2012 May 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-22569005
14.
Immunologic defects in severe mucocutaneous HSV-2 infections: Response to IFN-γ therapy.
J Allergy Clin Immunol
; 138(3): 895-898, 2016 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-27132219
15.
Medical costs of children admitted to the neonatal intensive care unit: The role and possible economic impact of WES in early diagnosis.
Eur J Med Genet
; 65(5): 104467, 2022 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-35240323
16.
Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients.
Hum Mutat
; 31(5): 578-87, 2010 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-20186688
17.
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.
Brain
; 131(Pt 4): 1078-86, 2008 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-18321925
18.
Extending the Spectrum of EYS-Associated Retinal Disease to Macular Dystrophy.
Invest Ophthalmol Vis Sci
; 60(6): 2049-2063, 2019 05 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31074760
19.
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.
Genome Med
; 11(1): 38, 2019 06 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-31203817
20.
[CHEK2-mutation in Dutch breast cancer families: expanding genetic testing for breast cancer]. / CHEK2-mutatie in Nederlandse borstkankerfamilies: uitbreiding van de genetische diagnostiek op borstkanker.
Ned Tijdschr Geneeskd
; 159: A8910, 2015.
Artículo
en Neerlandesa
| MEDLINE | ID: mdl-26332814