John J M Engelen
Overview
Explore the profile of John J M Engelen including associated specialties, affiliations and a list of published articles.
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Articles
13
Citations
119
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0
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Recent Articles
1.
de Groot-van der Mooren M, de Graaf G, Weijerman M, Hoffer M, Knijnenburg J, van der Kevie-Kersemaekers A, et al.
Prenat Diagn
. 2021 Jun;
41(10):1351-1359.
PMID: 34176145
Objective: To evaluate if non-invasive prenatal testing (NIPT) affects livebirth (LB) prevalence of Down syndrome (DS) in the Netherlands. Method: Data from clinical genetics laboratories and the Working Party on...
2.
van Uum C, Stevens S, Dreesen J, Drusedau M, Smeets H, Hollanders-Crombach B, et al.
Eur J Hum Genet
. 2012 Mar;
20(9):938-44.
PMID: 22378284
Preimplantation genetic diagnosis (PGD) for chromosomal rearrangements (CR) is mainly based on fluorescence in situ hybridisation (FISH). Application of this technique is limited by the number of available fluorochromes, the...
3.
Stevens S, van Ravenswaaij-Arts C, Janssen J, Klein Wassink-Ruiter J, van Essen A, Dijkhuizen T, et al.
Am J Med Genet A
. 2011 Oct;
155A(11):2739-45.
PMID: 21990140
A partial deletion of chromosome band 2p25.3 (2pter) is a rarely described cytogenetic aberration in patients with intellectual disability (ID). Using microarrays we identified deletions of 2p25.3, sized 0.37-3.13 Mb,...
4.
Hasson D, Alonso A, Cheung F, Tepperberg J, Papenhausen P, Engelen J, et al.
Chromosoma
. 2011 Aug;
120(6):621-32.
PMID: 21826412
Endogenous human centromeres form on megabase-sized arrays of tandemly repeated alpha satellite DNA. Human neocentromeres form epigenetically at ectopic sites devoid of alpha satellite DNA and permit analysis of centromeric...
5.
Stevens S, Smeets E, van den Broek N, Droog R, Breukels M, Albrechts J, et al.
Am J Med Genet A
. 2010 Jul;
152A(8):2123-6.
PMID: 20635365
No abstract available.
6.
Stevens S, Meers L, Albrechts J, Mebis-Verhees K, Bos G, Engelen J, et al.
Cancer Genet Cytogenet
. 2010 Jul;
201(1):48-51.
PMID: 20633769
A 55-year-old man sought care for aggressive acute lymphoblastic leukemia (ALL), which developed 8 years after he had received chemotherapeutic treatment for nephrotic syndrome. The sole cytogenetic abnormality observed in...
7.
Paulussen A, Schrander-Stumpel C, Tserpelis D, Spee M, Stegmann A, Mancini G, et al.
Eur J Hum Genet
. 2010 Jun;
18(9):999-1005.
PMID: 20531442
Holoprosencephaly is a severe malformation of the brain characterized by abnormal formation and separation of the developing central nervous system. The prevalence is 1:250 during early embryogenesis, the live-born prevalence...
8.
Sinnema M, van Roozendaal K, Maaskant M, Smeets H, Engelen J, Jonker-Houben N, et al.
Eur J Hum Genet
. 2010 May;
18(9):993-8.
PMID: 20461108
The Prader-Willi syndrome (PWS) is a genetic disorder caused by the absent expression of the paternal copy of maternally imprinted genes in chromosome region 15q11-13. The frequencies of different subtypes...
9.
Stevens S, Smeets E, Blom E, van Uum C, Albrechts J, Herbergs J, et al.
Am J Med Genet A
. 2009 Sep;
149A(10):2226-30.
PMID: 19725130
Genotypic and phenotypic data are presented on three adult siblings with mild to moderate mental retardation and mild dysmorphic features. All three siblings showed a chromosome 20 gain at the...
10.
Macville M, Loneus W, Marcus-Soekarman D, Huys E, Schoenmakers E, Schrank-Hacker A, et al.
Am J Med Genet A
. 2006 Aug;
140(18):1973-7.
PMID: 16894539
No abstract available.