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Fragile X syndrome.
Hagerman RJ, Berry-Kravis E, Hazlett HC, Bailey DB Jr, Moine H, Kooy RF, Tassone F, Gantois I, Sonenberg N, Mandel JL, Hagerman PJ. Hagerman RJ, et al. Among authors: kooy rf. Nat Rev Dis Primers. 2017 Sep 29;3:17065. doi: 10.1038/nrdp.2017.65. Nat Rev Dis Primers. 2017. PMID: 28960184 Review.
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.
Smolen C, Jensen M, Dyer L, Pizzo L, Tyryshkina A, Banerjee D, Rohan L, Huber E, El Khattabi L, Prontera P, Caberg JH, Van Dijck A, Schwartz C, Faivre L, Callier P, Mosca-Boidron AL, Lefebvre M, Pope K, Snell P, Lockhart PJ, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Luana Mandarà GM, Bruccheri MG, Pichon O, Le Caignec C, Stoeva R, Cuinat S, Mercier S, Bénéteau C, Blesson S, Nordsletten A, Martin-Coignard D, Sistermans E, Kooy RF, Amor DJ, Romano C, Isidor B, Juusola J, Girirajan S. Smolen C, et al. Among authors: kooy rf. Am J Hum Genet. 2023 Dec 7;110(12):2015-2028. doi: 10.1016/j.ajhg.2023.10.015. Epub 2023 Nov 17. Am J Hum Genet. 2023. PMID: 37979581
Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.
Smolen C, Jensen M, Dyer L, Pizzo L, Tyryshkina A, Banerjee D, Rohan L, Huber E, El Khattabi L, Prontera P, Caberg JH, Van Dijck A, Schwartz C, Faivre L, Callier P, Mosca-Boidron AL, Lefebvre M, Pope K, Snell P, Lockhart PJ, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Mandarà GML, Bruccheri MG, Pichon O, Le Caignec C, Stoeva R, Cuinat S, Mercier S, Bénéteau C, Blesson S, Nordsletten A, Martin-Coignard D, Sistermans E, Kooy RF, Amor DJ, Romano C, Isidor B, Juusola J, Girirajan S. Smolen C, et al. Among authors: kooy rf. medRxiv [Preprint]. 2023 May 26:2023.05.18.23290169. doi: 10.1101/2023.05.18.23290169. medRxiv. 2023. PMID: 37292616 Free PMC article. Updated. Preprint.
Transgenic mouse model for the fragile X syndrome.
Kooy RF, D'Hooge R, Reyniers E, Bakker CE, Nagels G, De Boulle K, Storm K, Clincke G, De Deyn PP, Oostra BA, Willems PJ. Kooy RF, et al. Am J Med Genet. 1996 Aug 9;64(2):241-5. doi: 10.1002/(SICI)1096-8628(19960809)64:2<241::AID-AJMG1>3.0.CO;2-X. Am J Med Genet. 1996. PMID: 8844056
Long-term potentiation in the hippocampus of fragile X knockout mice.
Godfraind JM, Reyniers E, De Boulle K, D'Hooge R, De Deyn PP, Bakker CE, Oostra BA, Kooy RF, Willems PJ. Godfraind JM, et al. Among authors: kooy rf. Am J Med Genet. 1996 Aug 9;64(2):246-51. doi: 10.1002/(SICI)1096-8628(19960809)64:2<246::AID-AJMG2>3.0.CO;2-S. Am J Med Genet. 1996. PMID: 8844057
Eighth International workshop on the fragile X syndrome and X-linked mental retardation, August 16-22, 1997.
Holden JJ, Percy M, Allingham-Hawkins D, Brown WT, Chiurazzi P, Fisch G, Gane L, Gunter C, Hagerman R, Jenkins EC, Kooy RF, Lubs HA, Murray A, Neri G, Schwartz C, Tranebjaerg L, Villard L, Willems PJ. Holden JJ, et al. Among authors: kooy rf. Am J Med Genet. 1999 Apr 2;83(4):221-36. doi: 10.1002/(sici)1096-8628(19990402)83:4<221::aid-ajmg1>3.0.co;2-k. Am J Med Genet. 1999. PMID: 10208154 No abstract available.
Postmortem examination of two fragile X brothers with an FMR1 full mutation.
Reyniers E, Martin JJ, Cras P, Van Marck E, Handig I, Jorens HZ, Oostra BA, Kooy RF, Willems PJ. Reyniers E, et al. Among authors: kooy rf. Am J Med Genet. 1999 May 28;84(3):245-9. doi: 10.1002/(sici)1096-8628(19990528)84:3<245::aid-ajmg16>3.0.co;2-u. Am J Med Genet. 1999. PMID: 10331601
Fragile X syndrome at the turn of the century.
Kooy RF, Willemsen R, Oostra BA. Kooy RF, et al. Mol Med Today. 2000 May;6(5):193-8. doi: 10.1016/s1357-4310(00)01674-9. Mol Med Today. 2000. PMID: 10782066 Review.
156 results