Kooy RF - Search Results

1

Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities.

Van Dijck A, van der Werf IM, Reyniers E, Scheers S, Azage M, Siefkas K, Van der Aa N, Lacroix A, Rosenfeld J, Argiropoulos B, Davis K, Innes AM, Mefford HC, Mortier G, Meuwissen M, Kooy RF. Van Dijck A, et al. Among authors: kooy rf. Eur J Med Genet. 2015 Oct;58(10):503-8. doi: 10.1016/j.ejmg.2015.08.004. Epub 2015 Aug 29. Eur J Med Genet. 2015. PMID: 26327614

2

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

3

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

4

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

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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