Frijns JP - Search Results

1

Testicular histology in boys with Prader-Willi syndrome: fertile or infertile?

Vogels A, Moerman P, Frijns JP, Bogaert GA. Vogels A, et al. Among authors: frijns jp. J Urol. 2008 Oct;180(4 Suppl):1800-4. doi: 10.1016/j.juro.2008.03.113. Epub 2008 Aug 21. J Urol. 2008. PMID: 18721940

2

Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation.

Denayer E, Parret A, Chmara M, Schubbert S, Vogels A, Devriendt K, Frijns JP, Rybin V, de Ravel TJ, Shannon K, Cools J, Scheffzek K, Legius E. Denayer E, et al. Among authors: frijns jp. Hum Mutat. 2008 Feb;29(2):232-9. doi: 10.1002/humu.20616. Hum Mutat. 2008. PMID: 17979197

3

Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome.

de Ravel TJ, Balikova I, Thiry P, Vermeesch JR, Frijns JP. de Ravel TJ, et al. Among authors: frijns jp. Eur J Med Genet. 2009 Mar-Jun;52(2-3):120-2. doi: 10.1016/j.ejmg.2009.01.002. Epub 2009 Jan 22. Eur J Med Genet. 2009. PMID: 19284984

4

Novel TBX5 mutations in patients with Holt-Oram syndrome.

Debeer P, Race V, Gewillig M, Devriendt K, Frijns JP. Debeer P, et al. Among authors: frijns jp. Clin Orthop Relat Res. 2007 Sep;462:20-6. doi: 10.1097/BLO.0b013e3181123ffe. Clin Orthop Relat Res. 2007. PMID: 17534187

5

MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients.

Moog U, Van Roozendaal K, Smeets E, Tserpelis D, Devriendt K, Buggenhout GV, Frijns JP, Schrander-Stumpel C. Moog U, et al. Among authors: frijns jp. Brain Dev. 2006 Jun;28(5):305-10. doi: 10.1016/j.braindev.2005.10.007. Epub 2006 Jan 10. Brain Dev. 2006. PMID: 16376510

6

Time trends in the natural dizygotic twinning rate.

Derom C, Gielen M, Peeters H, Frijns JP, Zeegers MP. Derom C, et al. Among authors: frijns jp. Hum Reprod. 2011 Aug;26(8):2247-52. doi: 10.1093/humrep/der180. Epub 2011 Jun 13. Hum Reprod. 2011. PMID: 21669967

7

The East Flanders Prospective Twin Survey (EFPTS): an actual perception.

Derom C, Thiery E, Peeters H, Vlietinck R, Defoort P, Frijns JP. Derom C, et al. Among authors: frijns jp. Twin Res Hum Genet. 2013 Feb;16(1):58-63. doi: 10.1017/thg.2012.75. Epub 2012 Oct 29. Twin Res Hum Genet. 2013. PMID: 23101489

8

Ring chromosome 20 syndrome: electroclinical description of six patients and review of the literature.

Elens I, Vanrykel K, De Waele L, Jansen K, Segeren M, Van Paesschen W, Ceulemans B, Boel M, Frijns JP, Buyse G, Lagae L. Elens I, et al. Among authors: frijns jp. Epilepsy Behav. 2012 Apr;23(4):409-14. doi: 10.1016/j.yebeh.2012.02.008. Epub 2012 Mar 15. Epilepsy Behav. 2012. PMID: 22424860 Review.

9

Delusional and psychotic disorders in juvenile myotonic dystrophy type-1.

Jacobs D, Willekens D, de Die-Smulders C, Frijns JP, Steyaert J. Jacobs D, et al. Among authors: frijns jp. Am J Med Genet B Neuropsychiatr Genet. 2017 Jun;174(4):359-366. doi: 10.1002/ajmg.b.32524. Epub 2017 Apr 27. Am J Med Genet B Neuropsychiatr Genet. 2017. PMID: 28449271

10

Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome.

Florisson JM, Mathijssen IM, Dumee B, Hoogeboom JA, Poddighe PJ, Oostra BA, Frijns JP, Koster L, de Klein A, Eussen B, de Vries BB, Swagemakers S, van der Spek PJ, Verkerk AJ. Florisson JM, et al. Among authors: frijns jp. Am J Med Genet A. 2013 Feb;161A(2):244-53. doi: 10.1002/ajmg.a.35632. Epub 2013 Jan 9. Am J Med Genet A. 2013. PMID: 23303641

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