Detalhe da pesquisa
1.
The effects of an online decision aid to support the reproductive decision-making process of genetically at risk couples-A pilot study.
J Genet Couns
; 32(1): 153-165, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36056622
2.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-31708118
3.
Facioscapulohumeral muscular dystrophy-Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease.
Clin Genet
; 101(2): 149-160, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34297364
4.
New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients.
RNA
; 25(9): 1130-1149, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31175170
5.
Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice.
Genet Med
; 23(6): 1125-1136, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33742171
6.
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome.
Hum Mol Genet
; 27(20): 3475-3487, 2018 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29931299
7.
Preserving fertility in young women undergoing chemotherapy for early breast cancer; the Maastricht experience.
Breast Cancer Res Treat
; 181(1): 77-86, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32236826
8.
Online decision support for persons having a genetic predisposition to cancer and their partners during reproductive decision-making.
J Genet Couns
; 28(3): 533-542, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30629779
9.
Ovarian stimulation for IVF and risk of primary breast cancer in BRCA1/2 mutation carriers.
Br J Cancer
; 119: 357-363, 2018 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29937543
10.
Mutation-specific effects in germline transmission of pathogenic mtDNA variants.
Hum Reprod
; 33(7): 1331-1341, 2018 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29850888
11.
Preimplantation genetic diagnosis for mitochondrial DNA mutations: analysis of one blastomere suffices.
J Med Genet
; 54(10): 693-697, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28668821
12.
De novo mtDNA point mutations are common and have a low recurrence risk.
J Med Genet
; 54(2): 73-83, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27450679
13.
Predictive testing of minors for Huntington's disease: The UK and Netherlands experiences.
Am J Med Genet B Neuropsychiatr Genet
; 177(1): 35-39, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29095566
14.
A comprehensive strategy for exome-based preconception carrier screening.
Genet Med
; 19(5): 583-592, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28492530
15.
PGD for the m.14487 T>C mitochondrial DNA mutation resulted in the birth of a healthy boy.
Hum Reprod
; 32(3): 698-703, 2017 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28122886
16.
Advances in prenatal screening: the ethical dimension.
Nat Rev Genet
; 12(9): 657-63, 2011 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-21850045
17.
PLS3 mutations in X-linked osteoporosis with fractures.
N Engl J Med
; 369(16): 1529-36, 2013 Oct 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-24088043
18.
Serum AMH levels in healthy women from BRCA1/2 mutated families: are they reduced?
Hum Reprod
; 31(11): 2651-2659, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27907901
19.
An FBN1 deep intronic mutation in a familial case of Marfan syndrome: an explanation for genetically unsolved cases?
Hum Mutat
; 35(5): 571-4, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24610719
20.
Microarrays as a diagnostic tool in prenatal screening strategies: ethical reflection.
Hum Genet
; 133(2): 163-72, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24077959