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Page 1
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
Mildly impaired water maze performance in male Fmr1 knockout mice.
D'Hooge R, Nagels G, Franck F, Bakker CE, Reyniers E, Storm K, Kooy RF, Oostra BA, Willems PJ, De Deyn PP. D'Hooge R, et al. Among authors: kooy rf. Neuroscience. 1997 Jan;76(2):367-76. doi: 10.1016/s0306-4522(96)00224-2. Neuroscience. 1997. PMID: 9015322
The fragile X syndrome and other fragile site disorders.
Kooy RF, Oostra BA, Willems PJ. Kooy RF, et al. Results Probl Cell Differ. 1998;21:1-46. doi: 10.1007/978-3-540-69680-3_1. Results Probl Cell Differ. 1998. PMID: 9670313 Review. No abstract available.
155 results