E J Kamsteeg
Overview
Explore the profile of E J Kamsteeg including associated specialties, affiliations and a list of published articles.
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Snapshot
Articles
35
Citations
584
Followers
0
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Recent Articles
11.
Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases
Krabbenborg L, Vissers L, Schieving J, Kleefstra T, Kamsteeg E, Veltman J, et al.
J Genet Couns
. 2016 Apr;
25(6):1207-1214.
PMID: 27098417
The use of whole exome sequencing (WES) for diagnostics of children with rare genetic diseases raises questions about best practices in genetic counselling. While a lot of attention is now...
12.
Snoeck M, Treves S, Molenaar J, Kamsteeg E, Jungbluth H, Voermans N
Cell Biochem Biophys
. 2016 Mar;
74(1):85-7.
PMID: 26972305
No abstract available.
13.
Fever-induced recurrent rhabdomyolysis due to a novel mutation in the ryanodine receptor type 1 gene
Molenaar J, Voermans N, van Hoeve B, Kamsteeg E, Kluijtmans L, Kusters B, et al.
Intern Med J
. 2014 Aug;
44(8):819-20.
PMID: 25081049
No abstract available.
14.
Leen W, Taher M, Verbeek M, Kamsteeg E, van de Warrenburg B, Willemsen M
J Neurol
. 2014 Jan;
261(3):589-99.
PMID: 24413642
GLUT1 deficiency syndrome (GLUT1DS) is a treatable neurometabolic disorder in which glucose transport into the brain is disturbed. Besides the classic phenotype of intellectual disability, epilepsy, and movement disorders, other...
15.
de Bot S, Veldink J, Vermeer S, Mensenkamp A, Brugman F, Scheffer H, et al.
J Neurol
. 2012 Oct;
260(3):869-75.
PMID: 23108492
SPAST mutations are the most common cause of autosomal dominant hereditary spastic paraplegias (AD-HSPs), but many spastic paraplegia patients are found to carry no mutations in this gene. In order...
16.
Voermans N, Laan A, Oosterhof A, van Kuppevelt T, Drost G, Lammens M, et al.
Neuromuscul Disord
. 2012 Jun;
22(11):944-54.
PMID: 22704959
Brody disease is a rare inherited myopathy due to reduced sarcoplasmic reticulum Ca(2+) ATPase (SERCA)1 activity caused by mutations in ATP2A1, which causes delayed muscle relaxation and silent cramps. So...
17.
Ockeloen C, Gilhuis H, Pfundt R, Kamsteeg E, Agrawal P, Beggs A, et al.
Neuromuscul Disord
. 2012 May;
22(7):632-9.
PMID: 22560515
Nemaline myopathy and myofibrillar myopathy are heterogeneous myopathies that both comprise early-onset forms. We present two sisters from a consanguineous Iraqi Kurdish family with predominant axial and limb girdle weakness....
18.
de Fost M, van Trotsenburg A, van Santen H, Endert E, van den Elzen C, Kamsteeg E, et al.
Eur J Endocrinol
. 2011 Apr;
165(1):161-5.
PMID: 21498630
Background: Familial neurohypophyseal (central) diabetes insipidus (DI) is caused by mutations in the arginine vasopressin-neurophysin II (AVP-NPII) gene. The majority of cases is inherited in an autosomal dominant way. In...
19.
Kocak H, Ozaydin E, Kose G, Marcelis C, Kamsteeg E, Ceylaner S
Genet Couns
. 2009 Oct;
20(3):261-7.
PMID: 19852433
Feingold syndrome (FS) is a dominantly inherited combination of microcephaly with or without learning disabilities, hand and foot abnormalities, short palpebral fissures and esophageal/duodenal atresia. The syndrome has autosomal dominant...
20.
Menko F, Kneepkens C, de Leeuw N, Peeters E, Van Maldergem L, Kamsteeg E, et al.
Clin Genet
. 2008 May;
74(2):145-54.
PMID: 18510548
Infantile juvenile polyposis is a rare disease with severe gastrointestinal symptoms and a grave clinical course. Recently, 10q23 microdeletions involving the PTEN and BMPR1A genes were found in four patients...