43 results on '"Oudakker, Astrid"'
Search Results
2. Cadherin-13 is a critical regulator of GABAergic modulation in human stem-cell-derived neuronal networks
3. Navigating Human Astrocyte Differentiation: Direct and Rapid one-step Differentiation of Induced Pluripotent Stem Cells to Functional Astrocytes Supporting Neuronal Network development
4. Distinct Pathogenic Genes Causing Intellectual Disability and Autism Exhibit a Common Neuronal Network Hyperactivity Phenotype
5. Histone Methylation by the Kleefstra Syndrome Protein EHMT1 Mediates Homeostatic Synaptic Scaling
6. Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling
7. A human in vitro neuronal model for studying homeostatic plasticity at the network level
8. Generation of induced pluripotent stem cell line carrying frameshift variants in NPHP1 (UCSFi001-A-68) using CRISPR/Cas9
9. Reduced Euchromatin histone methyltransferase 1 causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrome mice
10. Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye and cardiac abnormalities of Frank-Ter Haar syndrome
11. Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders
12. Cadherin-13 is a critical regulator of GABAergic modulation in human stem-cell-derived neuronal networks
13. Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia
14. Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome
15. ZNF674: a new Kruppel-associated box-containing zinc-finger gene involved in nonsyndromic x-linked mental retardation
16. KANSL1 Deficiency Causes Neuronal Dysfunction by Oxidative Stress-Induced Autophagy
17. Cadherin-13 is a critical regulator of GABAergic modulation in human stem cell derived neuronal networks
18. Xq13.2q21.1 Duplication Encompassing the ATRX Gene in a Man With Mental Retardation, Minor Facial and Genital Anomalies, Short Stature and Broad Thorax
19. Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders.
20. Mutation Frequencies of X-linked Mental Retardation Genes in Families from the EuroMRX Consortium
21. Neuronal network dysfunction in a human model for Kleefstra syndrome mediated by enhanced NMDAR signaling
22. Distinct pathogenic genes causing intellectual disability and autism exhibit overlapping effects on neuronal network development
23. Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation
24. A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy
25. Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation
26. Erratum: Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy
27. Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy
28. MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics
29. Low frequency of MECP2 mutations in mentally retarded males
30. Expanding phenotype of XNP mutations: Mild to moderate mental retardation
31. Localization of a gene for nonspecific X‐linked mental retardation (MRX 76) to Xp22.3–Xp21.3
32. Familial oligoasthenoteratozoospermia: evidence of autosomal dominant inheritance with sex-limited expression
33. In-frame deletion inMECP2 causes mild nonspecific mental retardation
34. A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.
35. Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.
36. MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics.
37. Recurrent deletion of ZNF630at Xp11.23 is not associated with mental retardationHow to cite this article: Lugtenberg D, ZangrandeVieira L, Kirchhoff M, Whibley AC, Oudakker AR, Kjaergaard S, ViannaMorgante AM, Kleefstra T, Ruiter M, Jehee FS, Ullmann R, Schwartz CE, Stratton M, Raymond FL, Veltman JA, Vrijenhoek T, Pfundt R, SchuursHoeijmakers JHM, HehirKwa JY, Froyen G, Chelly J, Ropers HH, Moraine C, Gècz J, Knijnenburg J, Kant SG, Hamel BCJ, Rosenberg C, van Bokhoven H, de Brouwer APM. 2010. Recurrent deletion of ZNF630at Xp11.23 is not associated with mental retardation. Am J Med Genet Part A 152A:638–645.
38. Xq13.2q21.1 duplication encompassing the ATRXgene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax
39. Expanding phenotype of <TOGGLE>XNP</TOGGLE> mutations: Mild to moderate mental retardation
40. In-frame deletion in <TOGGLE>MECP2</TOGGLE> causes mild nonspecific mental retardation
41. Segmental duplication-mediated microdeletion at Xp11.23 associated with syndromic mental retardation
42. CACNA1A haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability.
43. In-frame deletion in MECP2 causes mild nonspecific mental retardation.
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.