Feenstra I - Search Results

1

Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease.

Marouane A, Neveling K, Deden AC, van den Heuvel S, Zafeiropoulou D, Castelein S, van de Veerdonk F, Koolen DA, Simons A, Rodenburg R, Westra D, Mensenkamp AR, de Leeuw N, Ligtenberg M, Matthijsse R, Pfundt R, Kamsteeg EJ, Brunner HG, Gilissen C, Feenstra I, de Boode WP, Yntema HG, van Zelst-Stams WAG, Nelen M, Vissers LELM. Marouane A, et al. Among authors: feenstra i. Front Genet. 2024 Jan 8;14:1304520. doi: 10.3389/fgene.2023.1304520. eCollection 2023. Front Genet. 2024. PMID: 38259611 Free PMC article.

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

Phenotypic spectrum of 20 novel patients with molecularly defined supernumerary marker chromosomes 15 and a review of the literature.

Kleefstra T, de Leeuw N, Wolf R, Nillesen WM, Schobers G, Mieloo H, Willemsen M, Perrotta CS, Poddighe PJ, Feenstra I, Draaisma J, van Ravenswaaij-Arts CM. Kleefstra T, et al. Among authors: feenstra i. Am J Med Genet A. 2010 Sep;152A(9):2221-9. doi: 10.1002/ajmg.a.33529. Am J Med Genet A. 2010. PMID: 20683990 Review.

8

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.

9

A de novo 3.57 Mb microdeletion in 8q12.3q13.2 in a patient with mild intellectual disability and epilepsy.

Verhoeven WM, Egger JI, Feenstra I, de Leeuw N. Verhoeven WM, et al. Among authors: feenstra i. Eur J Med Genet. 2012 May;55(5):358-61. doi: 10.1016/j.ejmg.2011.10.005. Epub 2011 Nov 27. Eur J Med Genet. 2012. PMID: 22138216

10

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.

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