Kooy RF - Search Results

1

FRA2A is a CGG repeat expansion associated with silencing of AFF3.

Metsu S, Rooms L, Rainger J, Taylor MS, Bengani H, Wilson DI, Chilamakuri CS, Morrison H, Vandeweyer G, Reyniers E, Douglas E, Thompson G, Haan E, Gecz J, Fitzpatrick DR, Kooy RF. Metsu S, et al. Among authors: kooy rf. PLoS Genet. 2014 Apr 24;10(4):e1004242. doi: 10.1371/journal.pgen.1004242. eCollection 2014 Apr. PLoS Genet. 2014. PMID: 24763282 Free PMC article.

2

ADNP in reverse gear.

D'Incal CP, Kooy RF. D'Incal CP, et al. Among authors: kooy rf. Eur J Hum Genet. 2023 Aug;31(8):849-850. doi: 10.1038/s41431-023-01360-6. Epub 2023 Apr 18. Eur J Hum Genet. 2023. PMID: 37072552 No abstract available.

3

Mean corpuscular hemoglobin is not increased in Fmr1 knockout mice.

Reyniers E, Van Bockstaele DR, De Boulle K, Kooy RF, Bakker CE, Oostra BA, Willems PJ. Reyniers E, et al. Among authors: kooy rf. Hum Genet. 1996 Jan;97(1):49-50. doi: 10.1007/BF00218832. Hum Genet. 1996. PMID: 8557260

4

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

5

Severe mental retardation and macroorchidism without mutation in the FMR1 gene.

Reyniers E, Wolff G, Tariverdian G, De Boulle K, Storm K, Kooy RF, Willems PJ. Reyniers E, et al. Among authors: kooy rf. Am J Med Genet. 1996 Aug 9;64(2):408-12. doi: 10.1002/(SICI)1096-8628(19960809)64:2<408::AID-AJMG35>3.0.CO;2-H. Am J Med Genet. 1996. PMID: 8844093 Review.

6

Incomplete EcoRI digestion may lead to false diagnosis of fragile X syndrome.

Storm K, Handig I, Reyniers E, Oostra BA, Kooy RF, Willems PJ. Storm K, et al. Among authors: kooy rf. Hum Genet. 1998 Jan;102(1):54-6. doi: 10.1007/s004390050653. Hum Genet. 1998. PMID: 9490298

7

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

8

CAG repeat contraction in the androgen receptor gene in three brothers with mental retardation.

Kooy RF, Reyniers E, Storm K, Vits L, van Velzen D, de Ruiter PE, Brinkmann AO, de Paepe A, Willems PJ. Kooy RF, et al. Am J Med Genet. 1999 Jul 30;85(3):209-13. Am J Med Genet. 1999. PMID: 10398229

9

Neuroanatomy of the fragile X knockout mouse brain studied using in vivo high resolution magnetic resonance imaging.

Kooy RF, Reyniers E, Verhoye M, Sijbers J, Bakker CE, Oostra BA, Willems PJ, Van Der Linden A. Kooy RF, et al. Eur J Hum Genet. 1999 Jul;7(5):526-32. doi: 10.1038/sj.ejhg.5200348. Eur J Hum Genet. 1999. PMID: 10439957

10

A new neurological syndrome with mental retardation, choreoathetosis, and abnormal behavior maps to chromosome Xp11.

Reyniers E, Van Bogaert P, Peeters N, Vits L, Pauly F, Fransen E, Van Regemorter N, Kooy RF. Reyniers E, et al. Among authors: kooy rf. Am J Hum Genet. 1999 Nov;65(5):1406-12. doi: 10.1086/302638. Am J Hum Genet. 1999. PMID: 10521307 Free PMC article.

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