Gerssen-Schoorl K - Search Results

1

At least nine cases of trisomy 11q23-->qter in one generation as a result of familial t(11;13) translocation.

Smeets D, van Ravenswaaij C, de Pater J, Gerssen-Schoorl K, Van Hemel J, Janssen G, Smits A. Smeets D, et al. J Med Genet. 1997 Jan;34(1):18-23. doi: 10.1136/jmg.34.1.18. J Med Genet. 1997. PMID: 9032644 Free PMC article.

2

A third case of de novo partial trisomy 4p.

Oorthuys JW, Gerssen-Schoorl KB, de Pater JM, de France HF. Oorthuys JW, et al. J Med Genet. 1989 May;26(5):344-5. doi: 10.1136/jmg.26.5.344. J Med Genet. 1989. PMID: 2732997 Free PMC article. No abstract available.

3

Paracentric inversion inv(11)(q21q23) in The Netherlands.

Madan K, Pieters MH, Kuyt LP, van Asperen CJ, de Pater JM, Hamers AJ, Gerssen-Schoorl KB, Hustinx TW, Breed AS, Van Hemel JO, et al. Madan K, et al. Hum Genet. 1990 Jun;85(1):15-20. doi: 10.1007/BF00276319. Hum Genet. 1990. PMID: 2358301

4

Chromosome studies in 1792 males prior to intra-cytoplasmic sperm injection: the Dutch experience.

Tuerlings JH, de France HF, Hamers A, Hordijk R, Van Hemel JO, Hansson K, Hoovers JM, Madan K, Van der Blij-Philipsen M, Gerssen-Schoorl KB, Kremer JA, Smeets DF. Tuerlings JH, et al. Among authors: gerssen schoorl kb. Eur J Hum Genet. 1998 May-Jun;6(3):194-200. doi: 10.1038/sj.ejhg.5200193. Eur J Hum Genet. 1998. PMID: 9781022

5

A case of de novo interstitial deletion of chromosome 9(p12p13).

Giltay JC, Gerssen-Schoorl KB, van der Wagen A. Giltay JC, et al. Clin Genet. 1994 Sep;46(3):271-2. doi: 10.1111/j.1399-0004.1994.tb04241.x. Clin Genet. 1994. PMID: 7820945

6

Application of a comprehensive subtelomere array in clinical diagnosis of mental retardation.

Kok K, Dijkhuizen T, Swart YE, Zorgdrager H, van der Vlies P, Fehrmann R, te Meerman GJ, Gerssen-Schoorl KB, van Essen T, Sikkema-Raddatz B, Buys CH. Kok K, et al. Among authors: gerssen schoorl kb. Eur J Med Genet. 2005 Jul-Sep;48(3):250-62. doi: 10.1016/j.ejmg.2005.04.007. Eur J Med Genet. 2005. PMID: 16179221

7

An interstitial duplication of chromosome 13q31.3q32.1 further delineates the critical region for postaxial polydactyly type A2.

van der Zwaag PA, Dijkhuizen T, Gerssen-Schoorl KB, Colijn AW, Broens PM, Flapper BC, van Ravenswaaij-Arts CM. van der Zwaag PA, et al. Among authors: gerssen schoorl kb. Eur J Med Genet. 2010 Jan-Feb;53(1):45-9. doi: 10.1016/j.ejmg.2009.11.003. Epub 2009 Nov 23. Eur J Med Genet. 2010. PMID: 19941983

8

A case of de novo interstitial deletion of chromosome 5(q33q34).

Giltay JC, Gerssen-Schoorl KB, Luitse GH, Dauwerse HG. Giltay JC, et al. Clin Genet. 1997 Sep;52(3):173-6. doi: 10.1111/j.1399-0004.1997.tb02539.x. Clin Genet. 1997. PMID: 9377807

9

FISH and array-CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletions.

Dijkhuizen T, van Essen T, van der Vlies P, Verheij JB, Sikkema-Raddatz B, van der Veen AY, Gerssen-Schoorl KB, Buys CH, Kok K. Dijkhuizen T, et al. Among authors: gerssen schoorl kb. Am J Med Genet A. 2006 Nov 15;140(22):2482-7. doi: 10.1002/ajmg.a.31487. Am J Med Genet A. 2006. PMID: 17036314

10

Changes in yearly birth prevalence rates of children with Down syndrome in the period 1986-2007 in The Netherlands.

de Graaf G, Haveman M, Hochstenbach R, Engelen J, Gerssen-Schoorl K, Poddighe P, Smeets D, van Hove G. de Graaf G, et al. Among authors: gerssen schoorl k. J Intellect Disabil Res. 2011 May;55(5):462-73. doi: 10.1111/j.1365-2788.2011.01398.x. Epub 2011 Mar 6. J Intellect Disabil Res. 2011. PMID: 21375641

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