Artigos com autorizações de acesso público - Frank KooySaiba mais
GeralFWONIHEuropean CommissionSNSFGovernment of ItalyZonMwNIHRHHMIWellcomeNHMRCCIHRDFGMRCNSERCNSFCSwedish Research CouncilGenome CanadaNWOGovernment of SpainBMBFDoDINSERMTelethonAlzheimers's UKANRNSFAHAFNRSFRQSEMBLHelmholtzDNRFFondazione CariploRCNDoris Duke Charitable FoundationMichael J Fox FoundationAutism Speaks Inc, USABELSPOCZI
11 artigos não disponíveis publicamente
Fourteen new cases contribute to the characterization of the 7q11. 23 microduplication syndrome
N Van der Aa, L Rooms, G Vandeweyer, J van den Ende, E Reyniers, ...
European journal of medical genetics 52 (2-3), 94-100, 2009
Autorizações: Research Foundation (Flanders)
Pharmacological treatment of fragile X syndrome with GABAergic drugs in a knockout mouse model
I Heulens, C D’Hulst, D Van Dam, PP De Deyn, RF Kooy
Behavioural brain research 229 (1), 244-249, 2012
Autorizações: Research Foundation (Flanders)
Insights into GABAAergic system deficits in fragile X syndrome lead to clinical trials
S Braat, RF Kooy
Neuropharmacology 88, 48-54, 2015
Autorizações: Research Foundation (Flanders)
Balanced translocations in mental retardation
G Vandeweyer, RF Kooy
Human genetics 126, 133-147, 2009
Autorizações: Research Foundation (Flanders)
Fragile X syndrome neurobiology translates into rational therapy
S Braat, RF Kooy
Drug discovery today 19 (4), 510-519, 2014
Autorizações: Research Foundation (Flanders)
Challenges and opportunities in the investigation of unexplained intellectual disability using family‐based whole‐exome sequencing
C Helsmoortel, G Vandeweyer, P Ordoukhanian, F Van Nieuwerburgh, ...
Clinical Genetics 88 (2), 140-148, 2015
Autorizações: National Fund for Scientific Research, Belgium, Research Foundation (Flanders)
The molecular basis of the folate-sensitive fragile site FRA11A at 11q13
K Debacker, B Winnepenninckx, C Longman, J Colgan, J Tolmie, ...
Cytogenetic and Genome research 119 (1-2), 9-14, 2007
Autorizações: Research Foundation (Flanders)
Detection and interpretation of genomic structural variation in health and disease
G Vandeweyer, RF Kooy
Expert review of molecular diagnostics 13 (1), 61-82, 2013
Autorizações: Research Foundation (Flanders)
Array‐based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardation
L Rooms, G Vandeweyer, E Reyniers, K van Mol, I de Canck, ...
American Journal of Medical Genetics Part A 155 (2), 343-348, 2011
Autorizações: Research Foundation (Flanders)
Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals
AJM Dingemans, S Jansen, J van Reeuwijk, N de Leeuw, R Pfundt, ...
Nature Medicine 30 (7), 1994-2003, 2024
Autorizações: European Commission, Netherlands Organisation for Health Research and …
The GABAergic System Contributions to the Fragile X Syndrome Phenotype
MM Huntsman, RF Kooy
Fragile X Syndrome, 205-215, 2017
Autorizações: US National Institutes of Health
101 artigos disponíveis publicamente
Fragile X syndrome
RJ Hagerman, E Berry-Kravis, HC Hazlett, DB Bailey, H Moine, RF Kooy, ...
Nature reviews Disease primers 3 (1), 1-19, 2017
Autorizações: US Department of Defense, US National Institutes of Health, Research …
A new highly penetrant form of obesity due to deletions on chromosome 16p11. 2
RG Walters, S Jacquemont, A Valsesia, AJ De Smith, D Martinet, ...
Nature 463 (7281), 671-675, 2010
Autorizações: Swiss National Science Foundation, US National Institutes of Health, Genome …
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
HAF Stessman, BO Xiong, BP Coe, T Wang, K Hoekzema, M Fenckova, ...
Nature genetics 49 (4), 515-526, 2017
Autorizações: US National Institutes of Health, Howard Hughes Medical Institute, National …
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11. 2 locus
S Jacquemont, A Reymond, F Zufferey, L Harewood, RG Walters, ...
Nature 478 (7367), 97-102, 2011
Autorizações: Swiss National Science Foundation, US National Institutes of Health …
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
C Helsmoortel, AT Vulto-van Silfhout, BP Coe, G Vandeweyer, L Rooms, ...
Nature genetics 46 (4), 380-384, 2014
Autorizações: Swiss National Science Foundation, US National Institutes of Health …
A 600 kb deletion syndrome at 16p11. 2 leads to energy imbalance and neuropsychiatric disorders
F Zufferey, EH Sherr, ND Beckmann, E Hanson, AM Maillard, L Hippolyte, ...
Journal of medical genetics 49 (10), 660-668, 2012
Autorizações: Swiss National Science Foundation, US National Institutes of Health
The GABAA receptor as a therapeutic target for neurodevelopmental disorders
S Braat, RF Kooy
Neuron 86 (5), 1119-1130, 2015
Autorizações: Research Foundation (Flanders)
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome
BWM Van Bon, HC Mefford, B Menten, DA Koolen, AJ Sharp, ...
Journal of medical genetics 46 (8), 511-523, 2009
Autorizações: US National Institutes of Health, Howard Hughes Medical Institute
Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling
LS Blok, E Madsen, J Juusola, C Gilissen, D Baralle, MRF Reijnders, ...
The American Journal of Human Genetics 97 (2), 343-352, 2015
Autorizações: US National Institutes of Health, Howard Hughes Medical Institute, National …
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