Kooy RF - Search Results

1

Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome.

van der Werf IM, Buiting K, Czeschik C, Reyniers E, Vandeweyer G, Vanhaesebrouck P, Lüdecke HJ, Wieczorek D, Horsthemke B, Mortier G, Leroy JG, Kooy RF. van der Werf IM, et al. Among authors: kooy rf. Eur J Hum Genet. 2016 Dec;24(12):1724-1729. doi: 10.1038/ejhg.2016.82. Epub 2016 Jul 13. Eur J Hum Genet. 2016. PMID: 27406249 Free PMC article.

2

Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism.

D'Incal CP, Van Rossem KE, De Man K, Konings A, Van Dijck A, Rizzuti L, Vitriolo A, Testa G, Gozes I, Vanden Berghe W, Kooy RF. D'Incal CP, et al. Among authors: kooy rf. Clin Epigenetics. 2023 Mar 21;15(1):45. doi: 10.1186/s13148-023-01450-8. Clin Epigenetics. 2023. PMID: 36945042 Free PMC article. Review.

3

An integrated map of human chromosome 13 allowing regional localization of genetic markers.

Kooy RF, Wijngaard A, Verlind E, Scheffer H, Buys CH. Kooy RF, et al. Eur J Hum Genet. 1995;3(3):180-7. doi: 10.1159/000472293. Eur J Hum Genet. 1995. PMID: 7583043

4

The EUROGEM map of human chromosome 7.

Badbanchi F, Otto M, Kohlhauer U, Grzeschik N, Beck S, Smith SJ, Swallow DM, Kooy RF, Vergnaud G, Aldred M, et al. Badbanchi F, et al. Among authors: kooy rf. Eur J Hum Genet. 1994;2(3):216-7. Eur J Hum Genet. 1994. PMID: 7834287 No abstract available.

5

The EUROGEM map of human chromosome 13.

Kooy RF, Wijngaard A, Verlind E, Vergnaud G, Scheffer H, Buys CH. Kooy RF, et al. Eur J Hum Genet. 1994;2(3):228-9. Eur J Hum Genet. 1994. PMID: 7834293 No abstract available.

6

A deletion hybrid breakpoint map of the chromosomal region 13q14-q21 orders 19 genetic markers in 10 intervals.

Kooy RF, Verlind E, Houwen RH, Shapiro DN, Hawthorn LA, Cowell JK, Scheffer H, Buys CH. Kooy RF, et al. Eur J Hum Genet. 1994;2(1):59-65. doi: 10.1159/000472342. Eur J Hum Genet. 1994. PMID: 7913868

7

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

8

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

9

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.

10

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

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