Detalles de la búsqueda
1.
An inactivating mutation in the histone deacetylase SIRT6 causes human perinatal lethality.
Genes Dev
; 32(5-6): 373-388, 2018 03 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29555651
2.
Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study.
Am J Hum Genet
; 109(6): 1140-1152, 2022 06 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-35659929
3.
TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands.
Am J Hum Genet
; 105(6): 1091-1101, 2019 12 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-31708118
4.
Increased nuchal translucency before 11 weeks of gestation: Reason for referral?
Prenat Diagn
; 41(13): 1685-1693, 2021 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-34592002
5.
Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study.
Am J Hum Genet
; 109(7): 1344, 2022 Jul 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35803237
6.
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
7.
Mosaic maternal 10qter deletions are associated with FRA10B expansions and may cause false-positive noninvasive prenatal screening results.
Genet Med
; 20(11): 1472-1476, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-29493577
8.
Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study.
Genet Med
; 20(5): 480-485, 2018 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-29121006
9.
Factors for successful implementation of population-based expanded carrier screening: learning from existing initiatives.
Eur J Public Health
; 27(2): 372-377, 2017 04 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27485720
10.
Women's Experience with Non-Invasive Prenatal Testing and Emotional Well-being and Satisfaction after Test-Results.
J Genet Couns
; 26(6): 1348-1356, 2017 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-28667567
11.
Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part II-women's perspectives.
Prenat Diagn
; 36(12): 1091-1098, 2016 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-27739584
12.
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.
J Med Genet
; 50(5): 309-23, 2013 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-23456818
13.
Genetics of early miscarriage.
Biochim Biophys Acta
; 1822(12): 1951-9, 2012 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-22796359
14.
Counseling couples at risk of having a child with homozygous familial hypercholesterolemia - Clinical experience and recommendations.
J Clin Lipidol
; 17(2): 291-296, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-36604244
15.
Efficacy and Toxicity of Calcitonin Treatment in Children with Cherubism: A Single-Center Cohort Study.
J Bone Miner Res
; 38(12): 1822-1833, 2023 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-37823782
16.
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.
Hum Mutat
; 33(8): 1261-6, 2012 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-22539336
17.
Noninvasive Prenatal Test Results Indicative of Maternal Malignancies: A Nationwide Genetic and Clinical Follow-Up Study.
J Clin Oncol
; 40(22): 2426-2435, 2022 08 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-35394817
18.
Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis.
J Med Genet
; 47(3): 169-75, 2010 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-19846429
19.
Preconception carrier screening for multiple disorders: evaluation of a screening offer in a Dutch founder population.
Eur J Hum Genet
; 26(2): 166-175, 2018 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-29321671
20.
DNA analysis of the SH3BP2 gene in patients with aggressive central giant cell granuloma.
Br J Oral Maxillofac Surg
; 45(6): 499-500, 2007 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-16713042