Detalles de la búsqueda
1.
Estimating the Total Pathogenic Allele Frequency of Autosomal Recessive Disorders in Case of Consanguinity.
Hum Hered
; 80(2): 69-78, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-26540120
2.
Consanguinity and endogamy in the Netherlands: demographic and medical genetic aspects.
Hum Hered
; 77(1-4): 161-6, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-25060279
3.
Challenges in the care for consanguineous couples: an exploratory interview study among general practitioners and midwives.
BMC Fam Pract
; 13: 105, 2012 Oct 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-23102514
4.
Preconceptional genetic carrier testing and the commercial offer directly-to-consumers.
Hum Reprod
; 26(5): 972-7, 2011 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-21362685
5.
TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes.
J Med Genet
; 47(6): 421-8, 2010 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-20522432
6.
Do consanguineous parents of a child affected by an autosomal recessive disease have more DNA identical-by-descent than similarly-related parents with healthy offspring? Design of a case-control study.
BMC Med Genet
; 11: 113, 2010 Jul 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-20637082
7.
Psychomotor developmental delay and epilepsy in an offspring of fatherdaughter incest: quantification of the causality probability.
Int J Legal Med
; 128(5): 749-50, 2014 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-24077991
8.
Three-month follow-up of Western and non-Western participants in a study on preconceptional ancestry-based carrier couple screening for cystic fibrosis and hemoglobinopathies in the Netherlands.
Genet Med
; 10(11): 820-30, 2008 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-18941425
9.
Assessing educational priorities in genetics for general practitioners and specialists in five countries: factor structure of the Genetic-Educational Priorities (Gen-EP) scale.
Genet Med
; 10(2): 99-106, 2008 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-18281916
10.
Genetics in clinical practice: general practitioners' educational priorities in European countries.
Genet Med
; 10(2): 107-13, 2008 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-18281917
11.
CFTR mutations in Turkish and North African cystic fibrosis patients in Europe: implications for screening.
Genet Test
; 12(1): 25-35, 2008 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-18373402
12.
With expanded carrier screening, founder populations run the risk of being overlooked.
J Community Genet
; 8(4): 327-333, 2017 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-28555434
13.
Segregation ratio in cranio-cerebello-cardiac syndrome.
Eur J Hum Genet
; 14(9): 1054-7, 2006 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-16736035
14.
Informed decision making in the context of prenatal screening.
Patient Educ Couns
; 63(1-2): 110-7, 2006 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-16242899
15.
The difference between observed and expected prevalence of MCAD deficiency in The Netherlands: a genetic epidemiological study.
Eur J Hum Genet
; 13(8): 947-52, 2005 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-15870827
16.
Psychomotor developmental delay and epilepsy in an offspring of father-daughter incest: quantification of the causality probability.
Int J Legal Med
; 124(6): 667-8, 2010 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-19669779
17.
Population genetic screening programmes: principles, techniques, practices, and policies.
Eur J Hum Genet
; 11 Suppl 2: S49-87, 2003 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-14718938
18.
Personal experiences of cystic fibrosis (CF) carrier couples prospectively identified in CF families.
Am J Med Genet
; 110(4): 324-31, 2002 Jul 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-12116205
19.
Preconceptional cystic fibrosis carrier screening: opinions of general practitioners, gynecologists, and pediatricians in the Netherlands.
Genet Test
; 8(4): 431-6, 2004.
Artículo
en Inglés
| MEDLINE | ID: mdl-15684876
20.
Preconceptional cystic fibrosis carrier screening: attitudes and intentions of the target population.
Genet Test
; 8(2): 80-9, 2004.
Artículo
en Inglés
| MEDLINE | ID: mdl-15345102