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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.
Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility.
PLoS Genet
; 12(2): e1005880, 2016 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-26901136
6.
Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition.
Br J Cancer
; 118(2): 266-276, 2018 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29301143
7.
Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition.
Br J Cancer
; 118(6): e17, 2018 03 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-29509747
8.
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
9.
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
10.
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
11.
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
12.
Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.
Ophthalmology
; 121(8): 1620-7, 2014 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-24697911
13.
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
14.
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
15.
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
16.
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
17.
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
18.
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
19.
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
20.
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