Eric E J Smeets
Overview
Explore the profile of Eric E J Smeets including associated specialties, affiliations and a list of published articles.
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14
Citations
247
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Recent Articles
1.
de Breet L, Townend G, Curfs L, Kingma H, Smeets E, Lucieer F, et al.
Eur J Paediatr Neurol
. 2019 Jan;
23(2):262-269.
PMID: 30635145
Background: Rett syndrome (RTT) is a neurological disorder characterized by a broad spectrum of symptoms. Communication is a major area of difficulty. Use of eye tracking technology offers a potentially...
2.
Ockeloen C, Willemsen M, de Munnik S, van Bon B, de Leeuw N, Verrips A, et al.
Eur J Hum Genet
. 2015 Aug;
23(9):1270.
PMID: 26269249
No abstract available.
3.
Ockeloen C, Willemsen M, de Munnik S, van Bon B, de Leeuw N, Verrips A, et al.
Eur J Hum Genet
. 2014 Nov;
23(9):1176-85.
PMID: 25424714
Loss-of-function variants in ANKRD11 were identified as the cause of KBG syndrome, an autosomal dominant syndrome with specific dental, neurobehavioural, craniofacial and skeletal anomalies. We present the largest cohort of...
4.
Kuechler A, Willemsen M, Albrecht B, Bacino C, Bartholomew D, van Bokhoven H, et al.
Hum Genet
. 2014 Oct;
134(1):97-109.
PMID: 25326669
Recently, de novo heterozygous loss-of-function mutations in beta-catenin (CTNNB1) were described for the first time in four individuals with intellectual disability (ID), microcephaly, limited speech and (progressive) spasticity, and functional...
5.
van Urk P, van den Berg M, van Royen B, Smeets E, Curfs L
Ned Tijdschr Geneeskd
. 2014 Jan;
158(3):A6686.
PMID: 24423488
Background: Rett syndrome is caused by mutations in the X-linked MECP2 gene, encoding MeCP2 protein. This protein is essential for the transcription and repression of other genes and is important...
6.
Halbach N, Smeets E, Bierau J, Keularts I, Plasqui G, Julu P, et al.
JIMD Rep
. 2013 Feb;
3:117-24.
PMID: 23430883
Despite their good appetite, many females with Rett syndrome (RTT) meet the criteria for moderate to severe malnutrition. Although feeding difficulties may play a part in this, other constitutional factors...
7.
Halbach N, Smeets E, van den Braak N, van Roozendaal K, Blok R, Schrander-Stumpel C, et al.
Am J Med Genet A
. 2011 Dec;
158A(2):340-50.
PMID: 22190343
Rett syndrome (RTT; OMIM 312750) is an X-linked dominant neurodevelopmental disorder leading to cognitive and motor impairment, epilepsy, and autonomic dysfunction in females. Since the discovery that RTT is caused...
8.
Smeets E, Chenault M, Curfs L, Schrander-Stumpel C, Frijns J
Am J Med Genet A
. 2009 Jan;
149A(2):199-205.
PMID: 19133691
In a cohort of 103 females clinically diagnosed with Rett syndrome (RTT), 91 had a detectable MECP2 mutation. Emphasis on details of natural history facilitated grouping of females with the...
9.
van der Velden J, Vreeburg M, Smeets E, Schrander-Stumpel C, van Steensel M
Int J Dermatol
. 2008 Nov;
47 Suppl 1:45-8.
PMID: 18986487
Cowden disease is a rare autosomal dominant disorder characterized by multiple hamartomas and (malignant) tumors affecting major organs including the breast, thyroid, endometrium, brain, skin and mucosa. Diagnostic criteria as...
10.
Halbach N, Smeets E, Schrander-Stumpel C, van Schrojenstein Lantman de Valk H, Maaskant M, Curfs L
Am J Med Genet A
. 2008 Jul;
146A(15):1925-32.
PMID: 18627042
The aging process of people with intellectual disabilities has been a topic of interest in recent years. Good knowledge of the specific healthcare problems in adults with intellectual disabilities and...