Frijns JP - Search Results

1

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.

2

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

3

Preimplantation genetic screening for aneuploidy of embryos after in vitro fertilization in women aged at least 35 years: a prospective randomized trial.

Debrock S, Melotte C, Spiessens C, Peeraer K, Vanneste E, Meeuwis L, Meuleman C, Frijns JP, Vermeesch JR, D'Hooghe TM. Debrock S, et al. Among authors: frijns jp. Fertil Steril. 2010 Feb;93(2):364-73. doi: 10.1016/j.fertnstert.2008.10.072. Epub 2009 Feb 26. Fertil Steril. 2010. PMID: 19249029 Free article. Clinical Trial.

4

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

5

Congenital aural atresia in 18q deletion or de Grouchy syndrome.

Nuijten I, Admiraal R, Van Buggenhout G, Cremers C, Frijns JP, Smeets D, van Ravenswaaij-Arts C. Nuijten I, et al. Among authors: frijns jp. Otol Neurotol. 2003 Nov;24(6):900-6. doi: 10.1097/00129492-200311000-00014. Otol Neurotol. 2003. PMID: 14600472

6

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

7

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

8

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

9

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

10

On the variable expression of the Brachmann-de Lange syndrome.

de Die-Smulders C, Theunissen P, Schrander-Stumpel C, Frijns JP. de Die-Smulders C, et al. Among authors: frijns jp. Clin Genet. 1992 Jan;41(1):42-5. doi: 10.1111/j.1399-0004.1992.tb03628.x. Clin Genet. 1992. PMID: 1633646

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