Hochstenbach R - Search Results

1

Tetraploid/Diploid Mosaicism in Cultured Genital Skin Fibroblasts: Is It Causally Related to Penoscrotal Hypospadias?

Giltay JC, Klijn AJ, de Jong TP, Kats P, van Breugel M, Lens S, Vromans M, van der Veken LT, Hochstenbach R. Giltay JC, et al. Among authors: hochstenbach r. Mol Syndromol. 2016 Jul;7(3):153-9. doi: 10.1159/000446203. Epub 2016 Jun 2. Mol Syndromol. 2016. PMID: 27587991 Free PMC article.

2

Two cases with partial trisomy 9p: molecular cytogenetic characterization and clinical follow-up.

Littooij AS, Hochstenbach R, Sinke RJ, van Tintelen P, Giltay JC. Littooij AS, et al. Among authors: hochstenbach r. Am J Med Genet. 2002 Apr 22;109(2):125-32. doi: 10.1002/ajmg.10322. Am J Med Genet. 2002. PMID: 11977161

3

Diploid/triploid mosaicism in dysmorphic patients.

van de Laar I, Rabelink G, Hochstenbach R, Tuerlings J, Hoogeboom J, Giltay J. van de Laar I, et al. Among authors: hochstenbach r. Clin Genet. 2002 Nov;62(5):376-82. doi: 10.1034/j.1399-0004.2002.620504.x. Clin Genet. 2002. PMID: 12431252 Review.

4

Kinetics of meiosis in azoospermic males: a joint histological and cytological approach.

de Boer P, Giele M, Lock MT, de Rooij DG, Giltay J, Hochstenbach R, te Velde ER. de Boer P, et al. Among authors: hochstenbach r. Cytogenet Genome Res. 2004;105(1):36-46. doi: 10.1159/000078007. Cytogenet Genome Res. 2004. PMID: 15218256 Clinical Trial.

5

Cerebellar hypoplasia, zonular cataract, and peripheral neuropathy in trisomy 17 mosaicism.

Terhal P, Sakkers R, Hochstenbach R, Madan K, Rabelink G, Sinke R, Giltay J. Terhal P, et al. Among authors: hochstenbach r. Am J Med Genet A. 2004 Nov 1;130A(4):410-4. doi: 10.1002/ajmg.a.30124. Am J Med Genet A. 2004. PMID: 15481034

6

Variant Klinefelter syndrome 47,X,i(X)(q10),Y and normal 46,XY karyotype in monozygotic adult twins.

Stemkens D, Broekmans FJ, Kastrop PM, Hochstenbach R, Smith BG, Giltay JC. Stemkens D, et al. Among authors: hochstenbach r. Am J Med Genet A. 2007 Aug 15;143A(16):1906-11. doi: 10.1002/ajmg.a.31856. Am J Med Genet A. 2007. PMID: 17632769

7

Improved genetic manipulation of human embryonic stem cells.

Braam SR, Denning C, van den Brink S, Kats P, Hochstenbach R, Passier R, Mummery CL. Braam SR, et al. Among authors: hochstenbach r. Nat Methods. 2008 May;5(5):389-92. doi: 10.1038/nmeth.1200. Epub 2008 Apr 6. Nat Methods. 2008. PMID: 18391958

8

Unstable transmission of a familial complex chromosome rearrangement.

van Binsbergen E, Hochstenbach R, Giltay J, Swinkels M. van Binsbergen E, et al. Among authors: hochstenbach r. Am J Med Genet A. 2012 Nov;158A(11):2888-93. doi: 10.1002/ajmg.a.35580. Epub 2012 Sep 17. Am J Med Genet A. 2012. PMID: 22987625

9

Gain of FAM123B and ARHGEF9 in an Obese Man with Intellectual Disability, Congenital Heart Defects and Multiple Supernumerary Ring Chromosomes.

Hochstenbach R, van Gijn ME, Krijtenburg PJ, Raemakers R, van 't Slot R, Renkens I, Eleveld MJ, van der Smagt JJ, Poot M. Hochstenbach R, et al. Mol Syndromol. 2013 Jan;3(6):274-83. doi: 10.1159/000345241. Epub 2012 Nov 20. Mol Syndromol. 2013. PMID: 23599698 Free PMC article.

10

Genomic and functional overlap between somatic and germline chromosomal rearrangements.

van Heesch S, Simonis M, van Roosmalen MJ, Pillalamarri V, Brand H, Kuijk EW, de Luca KL, Lansu N, Braat AK, Menelaou A, Hao W, Korving J, Snijder S, van der Veken LT, Hochstenbach R, Knegt AC, Duran K, Renkens I, Alekozai N, Jager M, Vergult S, Menten B, de Bruijn E, Boymans S, Ippel E, van Binsbergen E, Talkowski ME, Lichtenbelt K, Cuppen E, Kloosterman WP. van Heesch S, et al. Among authors: hochstenbach r. Cell Rep. 2014 Dec 24;9(6):2001-10. doi: 10.1016/j.celrep.2014.11.022. Epub 2014 Dec 11. Cell Rep. 2014. PMID: 25497101 Free article.

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