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Esther de Graaff
Esther de Graaff
Assistent professor, Utrecht University
在 uu.nl 的电子邮件经过验证
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引用次数
引用次数
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Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17
M Hutton, CL Lendon, P Rizzu, M Baker, S Froelich, H Houlden, ...
Nature 393 (6686), 702-705, 1998
42751998
A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly
LA Lettice, SJH Heaney, LA Purdie, L Li, P De Beer, BA Oostra, D Goode, ...
Human molecular genetics 12 (14), 1725-1735, 2003
14362003
A point mutation in the FMR-1 gene associated with fragile X mental retardation
K De Boulle, AJMH Verkerk, E Reyniers, L Vits, J Hendrickx, B Van Roy, ...
Nature genetics 3 (1), 31-35, 1993
7771993
FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome
AD Fonzo, MCJ Dekker, P Montagna, A Baruzzi, EH Yonova, LC Guedes, ...
Neurology 72 (3), 240-245, 2009
4562009
Characterization and localization of the FMR-1 gene product associated with fragile X syndrome
C Verheij, CE Bakker, E de Graaff, J Keulemans, R Willemsen, ...
Nature 363 (6431), 722-724, 1993
4361993
Requirement of signalling by receptor tyrosine kinase RET for the directed migration of enteric nervous system progenitor cells during mammalian embryogenesis
D Natarajan, C Marcos-Gutierrez, V Pachnis, E de Graaff
Oxford University Press for The Company of Biologists Limited 129 (22), 5151 …, 2002
3772002
The full mutation in the FMR–1 gene of male fragile X patients is absent in their sperm
E Reyniers, L Vits, K De Boulle, BV Roy, DV Velzen, E de Graaff, ...
Nature genetics 4 (2), 143-146, 1993
3311993
Differential activities of the RET tyrosine kinase receptor isoforms during mammalian embryogenesis
E de Graaff, S Srinivas, C Kilkenny, V D'Agati, BS Mankoo, F Costantini, ...
Genes & development 15 (18), 2433-2444, 2001
3002001
Enteric nervous system progenitors are coordinately controlled by the G protein-coupled receptor EDNRB and the receptor tyrosine kinase RET
A Barlow, E de Graaff, V Pachnis
Neuron 40 (5), 905-916, 2003
2992003
Characterization of the full fragile X syndrome mutation in fetal gametes
HE Malter, JC Iber, R Willemsen, E Graaff, JC Tarleton, J Leisti, ...
Nature genetics 15 (2), 165-169, 1997
2371997
TRIM46 controls neuronal polarity and axon specification by driving the formation of parallel microtubule arrays
SFB van Beuningen, L Will, M Harterink, A Chazeau, EY Van Battum, ...
Neuron 88 (6), 1208-1226, 2015
2002015
Alternative splicing in the fragile X gene FMR1
AJMH Verkerk, E de Graaff, K De Boulle, EE Eichler, DS Konecki, ...
Human molecular genetics 2 (4), 399-404, 1993
1991993
Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy
AJMH Verkerk, R Schot, B Dumee, K Schellekens, S Swagemakers, ...
The American Journal of Human Genetics 85 (1), 40-52, 2009
1762009
Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems
AS Brooks, AM Bertoli-Avella, GM Burzynski, GJ Breedveld, J Osinga, ...
The American Journal of Human Genetics 77 (1), 120-126, 2005
1762005
Pericentrosomal targeting of Rab6 secretory vesicles by Bicaudal‐D‐related protein 1 (BICDR‐1) regulates neuritogenesis
MA Schlager, LC Kapitein, I Grigoriev, GM Burzynski, PS Wulf, N Keijzer, ...
The EMBO journal 29 (10), 1637-1651, 2010
1702010
Identification of delta/notch‐like epidermal growth factor‐related receptor as the Tr antigen in paraneoplastic cerebellar degeneration
E de Graaff, P Maat, E Hulsenboom, R van den Berg, M van den Bent, ...
Annals of neurology 71 (6), 815-824, 2012
1672012
A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome
H Meljer, E de Graaff, DML Merckx, RJE Jongbloed, ...
Human Molecular Genetics 3 (4), 615-620, 1994
1471994
Clonal involvement of granulocytes and monocytes, but not of T and B lymphocytes and natural killer cells in patients with myelodysplasia: analysis by X-linked restriction …
H van Kamp, WE Fibbe, RP Jansen, M van der Keur, E de Graaff, ...
1291992
Liprin-α2 promotes the presynaptic recruitment and turnover of RIM1/CASK to facilitate synaptic transmission
SA Spangler, SK Schmitz, JT Kevenaar, E de Graaff, H de Wit, J Demmers, ...
Journal of Cell Biology 201 (6), 915-928, 2013
1142013
Kinesin-binding protein controls microtubule dynamics and cargo trafficking by regulating kinesin motor activity
JT Kevenaar, S Bianchi, M van Spronsen, N Olieric, J Lipka, CP Frias, ...
Current Biology 26 (7), 849-861, 2016
1102016
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