Eric E J G L Smeets
Overview
Explore the profile of Eric E J G L Smeets including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
6
Citations
124
Followers
0
Related Specialty
Related Specialty
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Stevens S, Blom E, Siegelaer I, Smeets E
Eur J Hum Genet
. 2014 Jul;
23(4):543-6.
PMID: 24986827
We identified an identical and recurrent 9.4-Mbp deletion at chromosome bands 2p11.2-2p12, which occurred de novo in two unrelated patients. It is flanked at the distal and proximal breakpoints by...
2.
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,...
3.
Paulussen A, Stegmann A, Blok M, Tserpelis D, Posma-Velter C, Detisch Y, et al.
Hum Mutat
. 2011 Feb;
32(2):E2018-25.
PMID: 21280141
Kabuki Syndrome (KS) is a rare syndrome characterized by intellectual disability and multiple congenital abnormalities, in particular a distinct dysmorphic facial appearance. KS is caused by mutations in the MLL2...
4.
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.
5.
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...
6.
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...