Kooy RF - Search Results

1

Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes.

Smal N, Majdoub F, Janssens K, Reyniers E, Meuwissen MEC, Ceulemans B, Northrup H, Hill JB, Liu L, Errichiello E, Gana S, Strong A, Rohena L, Franciskovich R, Murali CN, Huybrechs A, Sulem T, Fridriksdottir R, Sulem P, Stefansson K, Bai Y, Rosenfeld JA, Lalani SR, Streff H; Undiagnosed Diseases Network; Kooy RF, Weckhuysen S. Smal N, et al. Among authors: kooy rf. Eur J Hum Genet. 2024 Nov;32(11):1378-1386. doi: 10.1038/s41431-024-01661-4. Epub 2024 Jul 4. Eur J Hum Genet. 2024. PMID: 38965372

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

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.

4

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

5

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

6

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

7

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.

8

Restoring the phenotype of fragile X syndrome: insight from the mouse model.

Gantois I, Bakker CE, Reyniers E, Willemsen R, D'Hooge R, De Deyn PP, Oostra BA, Kooy RF. Gantois I, et al. Among authors: kooy rf. Curr Mol Med. 2001 Sep;1(4):447-55. doi: 10.2174/1566524013363492. Curr Mol Med. 2001. PMID: 11899089 Review.

9

Family MRX9 revisited: further evidence for locus heterogeneity in MRX.

Winnepenninckx B, Errijgers V, Reyniers E, De Deyn PP, Abidi FE, Schwartz CE, Kooy RF. Winnepenninckx B, et al. Among authors: kooy rf. Am J Med Genet. 2002 Sep 15;112(1):17-22. doi: 10.1002/ajmg.10663. Am J Med Genet. 2002. PMID: 12239714

10

Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA).

Rooms L, Reyniers E, van Luijk R, Scheers S, Wauters J, Ceulemans B, Van Den Ende J, Van Bever Y, Kooy RF. Rooms L, et al. Among authors: kooy rf. Hum Mutat. 2004 Jan;23(1):17-21. doi: 10.1002/humu.10300. Hum Mutat. 2004. PMID: 14695528

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

162 results

Search Page

Filters