E de Graaff
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Explore the profile of E de Graaff including associated specialties, affiliations and a list of published articles.
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37
Citations
2386
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Recent Articles
1.
van Coevorden-Hameete M, de Graaff E, Titulaer M, Hoogenraad C, Sillevis Smitt P
Autoimmun Rev
. 2013 Nov;
13(3):299-312.
PMID: 24225076
Over the last decade multiple autoantigens located on the plasma membrane of neurons have been identified. Neuronal surface antigens include molecules directly involved in neurotransmission and excitability. Binding of the...
2.
Di Fonzo A, Dekker M, Montagna P, Baruzzi A, Yonova E, Correia Guedes L, et al.
Neurology
. 2008 Nov;
72(3):240-5.
PMID: 19038853
Background: The combination of early-onset, progressive parkinsonism with pyramidal tract signs has been known as pallido-pyramidal or parkinsonian-pyramidal syndrome since the first description by Davison in 1954. Very recently, a...
3.
Lodder E, Hoogeboom A, Coert J, de Graaff E
Am J Med Genet A
. 2008 Jul;
146A(16):2152-4.
PMID: 18629882
Brachydactyly type A1 is a limb malformation characterized by a uniform shortening of the middle phalanges in all digits. Mutations in the Indian hedgehog (IHH) gene were shown to be...
4.
de Graaff E, Srinivas S, Kilkenny C, DAgati V, Mankoo B, Costantini F, et al.
Genes Dev
. 2001 Sep;
15(18):2433-44.
PMID: 11562352
The RET receptor tyrosine kinase has a critical role in kidney organogenesis and the development of the enteric nervous system. Two major isoforms, RET9 and RET51, differ in the amino...
5.
Hutton M, Lendon C, Rizzu P, Baker M, Froelich S, Houlden H, et al.
Nature
. 1998 Jun;
393(6686):702-5.
PMID: 9641683
Thirteen families have been described with an autosomal dominantly inherited dementia named frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), historically termed Pick's disease. Most FTDP-17 cases show neuronal...
6.
Bontekoe C, de Graaff E, Nieuwenhuizen I, Willemsen R, Oostra B
Eur J Hum Genet
. 1997 Dec;
5(5):293-8.
PMID: 9412786
Fragile X syndrome is caused by an expansion of the CGG repeat present in the 5' UTR of the FMR1 gene. A lot has been elucidated about the genetics of...
7.
Schwemmle S, de Graaff E, Deissler H, Glaser D, Wohrle D, Kennerknecht I, et al.
Am J Hum Genet
. 1997 Jun;
60(6):1354-62.
PMID: 9199556
Fragile X syndrome is associated with silencing of the FMR1 gene. We studied the transcriptional regulation, by analysis of the FMR1 promoter region for the presence of in vivo protein/DNA...
8.
Malter H, Iber J, Willemsen R, de Graaff E, Tarleton J, Leisti J, et al.
Nat Genet
. 1997 Feb;
15(2):165-9.
PMID: 9020841
Fragile X syndrome results from the expansion of the CGG repeat in the FMR1 gene. Expansion has been suggested to be a postzygotic event with the germline protected. From an...
9.
de Graaff E, de Vries B, Willemsen R, Van Hemel J, Mohkamsing S, Oostra B, et al.
Am J Med Genet
. 1996 Aug;
64(2):302-8.
PMID: 8844070
The instability of the CGG repeat region of FMR1 is not restricted to the CGG repeat but expands to flanking sequences as well. A mosaic fragile X male is reported...
10.
de Graaff E, Willemsen R, Zhong N, de Die-Smulders C, Brown W, Freling G, et al.
Am J Hum Genet
. 1995 Sep;
57(3):609-18.
PMID: 7668289
The molecular mechanism of the fragile X syndrome is based on the expansion of an CGG repeat in the 5' UTR of the FMR1 gene in the majority of fragile...