Feenstra I - Search Results

1

A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases.

Neveling K, Feenstra I, Gilissen C, Hoefsloot LH, Kamsteeg EJ, Mensenkamp AR, Rodenburg RJ, Yntema HG, Spruijt L, Vermeer S, Rinne T, van Gassen KL, Bodmer D, Lugtenberg D, de Reuver R, Buijsman W, Derks RC, Wieskamp N, van den Heuvel B, Ligtenberg MJ, Kremer H, Koolen DA, van de Warrenburg BP, Cremers FP, Marcelis CL, Smeitink JA, Wortmann SB, van Zelst-Stams WA, Veltman JA, Brunner HG, Scheffer H, Nelen MR. Neveling K, et al. Among authors: feenstra i. Hum Mutat. 2013 Dec;34(12):1721-6. doi: 10.1002/humu.22450. Epub 2013 Oct 18. Hum Mutat. 2013. PMID: 24123792

2

Cryptic duplication of the distal segment of 22q due to a translocation (21;22): three case reports and a review of the literature.

Feenstra I, Koolen DA, Van der Pas J, Hamel BC, Mieloo H, Smeets DF, Van Ravenswaaij CM. Feenstra I, et al. Eur J Med Genet. 2006 Sep-Oct;49(5):384-95. doi: 10.1016/j.ejmg.2006.01.005. Epub 2006 Feb 9. Eur J Med Genet. 2006. PMID: 16503209 Review.

3

European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities.

Feenstra I, Fang J, Koolen DA, Siezen A, Evans C, Winter RM, Lees MM, Riegel M, de Vries BB, Van Ravenswaaij CM, Schinzel A. Feenstra I, et al. Eur J Med Genet. 2006 Jul-Aug;49(4):279-91. doi: 10.1016/j.ejmg.2005.10.131. Epub 2005 Nov 7. Eur J Med Genet. 2006. PMID: 16829349

4

Cytogenetic genotype-phenotype studies: improving genotyping, phenotyping and data storage.

Feenstra I, Brunner HG, van Ravenswaaij CM. Feenstra I, et al. Cytogenet Genome Res. 2006;115(3-4):231-9. doi: 10.1159/000095919. Cytogenet Genome Res. 2006. PMID: 17124405 Review.

5

Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map.

Feenstra I, Vissers LE, Orsel M, van Kessel AG, Brunner HG, Veltman JA, van Ravenswaaij-Arts CM. Feenstra I, et al. Am J Med Genet A. 2007 Aug 15;143A(16):1858-67. doi: 10.1002/ajmg.a.31850. Am J Med Genet A. 2007. PMID: 17632778

6

Tall stature and minor facial dysmorphisms in a patient with a 17.5 Mb interstitial deletion of chromosome 13 (q14.3q21.33): clinical report and review.

van Bon BW, Koolen DA, Feenstra I, Neefs I, Pfundt R, Smeets DF, de Vries BB. van Bon BW, et al. Among authors: feenstra i. Clin Dysmorphol. 2007 Oct;16(4):279-82. doi: 10.1097/MCD.0b013e3282630818. Clin Dysmorphol. 2007. PMID: 17786124 Review.

7

Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.

Feenstra I, Hanemaaijer N, Sikkema-Raddatz B, Yntema H, Dijkhuizen T, Lugtenberg D, Verheij J, Green A, Hordijk R, Reardon W, Vries Bd, Brunner H, Bongers E, Leeuw Nd, van Ravenswaaij-Arts C. Feenstra I, et al. Eur J Hum Genet. 2011 Nov;19(11):1152-60. doi: 10.1038/ejhg.2011.120. Epub 2011 Jun 29. Eur J Hum Genet. 2011. PMID: 21712853 Free PMC article.

8

Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans.

Feenstra I, Vissers LE, Pennings RJ, Nillessen W, Pfundt R, Kunst HP, Admiraal RJ, Veltman JA, van Ravenswaaij-Arts CM, Brunner HG, Cremers CW. Feenstra I, et al. Am J Hum Genet. 2011 Dec 9;89(6):813-9. doi: 10.1016/j.ajhg.2011.11.008. Am J Hum Genet. 2011. PMID: 22152683 Free PMC article.

9

Reliable noninvasive prenatal testing by massively parallel sequencing of circulating cell-free DNA from maternal plasma processed up to 24h after venipuncture.

Buysse K, Beulen L, Gomes I, Gilissen C, Keesmaat C, Janssen IM, Derks-Willemen JJ, de Ligt J, Feenstra I, Bekker MN, van Vugt JM, Geurts van Kessel A, Vissers LE, Faas BH. Buysse K, et al. Among authors: feenstra i. Clin Biochem. 2013 Dec;46(18):1783-6. doi: 10.1016/j.clinbiochem.2013.07.020. Epub 2013 Aug 8. Clin Biochem. 2013. PMID: 23933476

10

Genotype phenotype correlations for hearing impairment: approaches to management.

Hoefsloot LH, Feenstra I, Kunst HP, Kremer H. Hoefsloot LH, et al. Among authors: feenstra i. Clin Genet. 2014 Jun;85(6):514-23. doi: 10.1111/cge.12339. Epub 2014 Feb 18. Clin Genet. 2014. PMID: 24547994 Review.

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