Frank Kooy researcher
Kooy, R. Frank
VIAF ID: 740150869792322190002 (Personal)
Permalink: http://viaf.org/viaf/740150869792322190002
Preferred Forms
- 100 0 _ ‡a Frank Kooy ‡c researcher
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- 100 1 _ ‡a Kooy, R. Frank
- 100 1 _ ‡a Kooy, R. Frank
4xx's: Alternate Name Forms (4)
Works
Title | Sources |
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Effect of genetic background on acoustic startle response in fragile X knockout mice | |
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative | |
Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice | |
Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles | |
Expression profiling suggests underexpression of the GABA(A) receptor subunit delta in the fragile X knockout mouse model | |
Family MRX9 revisited: further evidence for locus heterogeneity in MRX. | |
FMR1 gene deletion/reversion: a pitfall of fragile X carrier testing. | |
FRA2A is a CGG repeat expansion associated with silencing of AFF3 | |
Fragile sites and human disease | |
Fragile X syndrome from genetics to targeted treatment | |
Fragile X syndrome neurobiology translates into rational therapy | |
Fragile X syndrome phenotype with normal FMR1 gene studies. | |
Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature | |
Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes. | |
FVB.129P2-Pde6b(+) Tyr(c-ch)/Ant, a sighted variant of the FVB/N mouse strain suitable for behavioral analysis. | |
GABA neurotransmitter signaling in the developing mouse lens: dynamic regulation of components and functionality | |
The GABAA Receptor as a Therapeutic Target for Neurodevelopmental Disorders | |
Gaps in Current Autism Research: The Thoughts of the Autism Research Editorial Board and Associate Editors | |
Germline mutation of microRNA-125a is associated with breast cancer | |
Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2. | |
A highly informative dinucleotide repeat polymorphism at D13S201, between RB1 and WND | |
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. | |
Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches. | |
Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges | |
Incomplete Eco RI digestion may lead to false diagnosis of fragile X syndrome | |
Influence of fever and flurbiprofen on trypanosome growth | |
Insights into GABAAergic system deficits in fragile X syndrome lead to clinical trials | |
Involvement and therapeutic potential of the GABAergic system in the fragile X syndrome. | |
L1 knockout mice show dilated ventricles, vermis hypoplasia and impaired exploration patterns. | |
Lessons learned from 40 novel PIGA patients and a review of the literature | |
Long-term potentiation in mice lacking the neural cell adhesion molecule L1. | |
Long-term potentiation in the hippocampus of fragile X knockout mice. | |
Metabonomics adds a new dimension to fragile X syndrome. | |
Mice lacking Dfna5 show a diverging number of cochlear fourth row outer hair cells | |
Mildly impaired water maze performance in male Fmr1 knockout mice. | |
A missense mutation in the coiled-coil motif of the HP1-interacting domain of ATR-X in a family with X-linked mental retardation. | |
The molecular basis of the folate-sensitive fragile site FRA11A at 11q13. | |
A mouse model for intellectual disability caused by mutations in the X-linked 2′‑O‑methyltransferase Ftsj1 gene | |
Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics. | |
Multiplexed High Resolution Melting Assay for Versatile Sample Tracking in a Diagnostic and Research Setting. | |
Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy | |
Mutations in ADNP affect expression and subcellular localization of the protein | |
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling | |
Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability. | |
Neuroanatomy of the fragile X knockout mouse brain studied using in vivo high resolution magnetic resonance imaging. | |
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. | |
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. | |
A new neurological syndrome with mental retardation, choreoathetosis, and abnormal behavior maps to chromosome Xp11. | |
Novel BRPF1 mutation in a boy with intellectual disability, coloboma, facial nerve palsy and hypoplasia of the corpus callosum | |
Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome | |
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms | |
On the DNA content of Trypanosoma cruzi | |
Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders | |
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15 | |
Physical localisation of the chromosomal marker D13S31 places the Wilson disease locus at the junction of bands q14.3 and q21.1 of chromosome 13 | |
PLCB1 epileptic encephalopathies; Review and expansion of the phenotypic spectrum | |
Postmortem examination of two fragile X brothers with an FMR1 full mutation. | |
PUM1 haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy | |
A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome. | |
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants | |
A robust protocol to increase NimbleGen SeqCap EZ multiplexing capacity to 96 samples | |
Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype-phenotype correlation. | |
Severe mental retardation and macroorchidism without mutation in the FMR1 gene | |
Single-Cell and Neuronal Network Alterations in an In Vitro Model of Fragile X Syndrome | |
The SOX8 gene is located within 700 kb of the tip of chromosome 16p and is deleted in a patient with ATR-16 syndrome | |
Spatial learning, contextual fear conditioning and conditioned emotional response in Fmr1 knockout mice. | |
Subtelomeric imbalances in phenotypically normal individuals. | |
Subtelomeric rearrangements in the mentally retarded: a comparison of detection methods. | |
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases | |
Tauopathy in the young autistic brain: novel biomarker and therapeutic target | |
TBP as a candidate gene for mental retardation in patients with subtelomeric 6q deletions | |
TheTrypanosoma bruceiDNA polymerase α core subunit gene is developmentally regulated and linked to a constitutively expressed open reading frame | |
Thoracic dimples and dysmorphic features associated with a partial duplication and triplication of chromosome 12q24 | |
TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation | |
The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism. | |
Transgenic mouse model for the fragile X syndrome. | |
The translational regulator FMRP controls lipid and glucose metabolism in mice and humans | |
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. | |
VariantDB: a flexible annotation and filtering portal for next generation sequencing data | |
Whole genome sequencing of a dizygotic twin suggests a role for the serotonin receptor HTR7 in autism spectrum disorder. | |
A Yeast Artificial Chromosome Contig That Spans the RB1-D13S31 Interval on Human Chromosome 13 and Encompasses the Frequently Deleted Region in B-cell Chronic Lymphocytic Leukemia |