Smeets D - Search Results

1

The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients.

Van Buggenhout G, Van Ravenswaaij-Arts C, Mc Maas N, Thoelen R, Vogels A, Smeets D, Salden I, Matthijs G, Fryns JP, Vermeesch JR. Van Buggenhout G, et al. Among authors: smeets d. Eur J Med Genet. 2005 Jul-Sep;48(3):276-89. doi: 10.1016/j.ejmg.2005.05.005. Eur J Med Genet. 2005. PMID: 16179223

2

The importance of chromosome studies in Roberts syndrome/SC phocomelia and other cohesinopathies.

Gerkes EH, van der Kevie-Kersemaekers AM, Yakin M, Smeets DF, van Ravenswaaij-Arts CM. Gerkes EH, et al. Eur J Med Genet. 2010 Jan-Feb;53(1):40-4. doi: 10.1016/j.ejmg.2009.10.005. Epub 2009 Oct 28. Eur J Med Genet. 2010. PMID: 19878742

3

Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype.

Swinkels ME, Simons A, Smeets DF, Vissers LE, Veltman JA, Pfundt R, de Vries BB, Faas BH, Schrander-Stumpel CT, McCann E, Sweeney E, May P, Draaisma JM, Knoers NV, van Kessel AG, van Ravenswaaij-Arts CM. Swinkels ME, et al. Am J Med Genet A. 2008 Jun 1;146A(11):1430-8. doi: 10.1002/ajmg.a.32310. Am J Med Genet A. 2008. PMID: 18452192

4

Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH.

Veltman JA, Jonkers Y, Nuijten I, Janssen I, van der Vliet W, Huys E, Vermeesch J, Van Buggenhout G, Fryns JP, Admiraal R, Terhal P, Lacombe D, van Kessel AG, Smeets D, Schoenmakers EF, van Ravenswaaij-Arts CM. Veltman JA, et al. Among authors: smeets d. Am J Hum Genet. 2003 Jun;72(6):1578-84. doi: 10.1086/375695. Epub 2003 May 9. Am J Hum Genet. 2003. PMID: 12740760 Free PMC article.

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: smeets d. Otol Neurotol. 2003 Nov;24(6):900-6. doi: 10.1097/00129492-200311000-00014. Otol Neurotol. 2003. PMID: 14600472

6

Mosaic tetrasomy 8p in two patients: clinical data and review of the literature.

Schrander-Stumpel CT, Govaerts LC, Engelen JJ, van der Blij-Philipsen M, Borghgraef M, Loots WJ, Peters JJ, Rijnvos WP, Smeets DF, Fryns JP. Schrander-Stumpel CT, et al. Among authors: smeets df. Am J Med Genet. 1994 May 1;50(4):377-80. doi: 10.1002/ajmg.1320500416. Am J Med Genet. 1994. PMID: 7516121 Review.

7

Down-Turner syndrome: case report and review.

Van Buggenhout GJ, Hamel BC, Trommelen JC, Mieloo H, Smeets DF. Van Buggenhout GJ, et al. Among authors: smeets df. J Med Genet. 1994 Oct;31(10):807-10. doi: 10.1136/jmg.31.10.807. J Med Genet. 1994. PMID: 7837259 Free PMC article. Review.

8

Down syndrome in a population of elderly mentally retarded patients: genetic-diagnostic survey and implications for medical care.

Van Buggenhout GJ, Trommelen JC, Schoenmaker A, De Bal C, Verbeek JJ, Smeets DF, Ropers HH, Devriendt K, Hamel BC, Fryns JP. Van Buggenhout GJ, et al. Among authors: smeets df. Am J Med Genet. 1999 Aug 6;85(4):376-84. doi: 10.1002/(sici)1096-8628(19990806)85:4<376::aid-ajmg14>3.3.co;2-h. Am J Med Genet. 1999. PMID: 10398264

9

Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities.

Vissers LE, de Vries BB, Osoegawa K, Janssen IM, Feuth T, Choy CO, Straatman H, van der Vliet W, Huys EH, van Rijk A, Smeets D, van Ravenswaaij-Arts CM, Knoers NV, van der Burgt I, de Jong PJ, Brunner HG, van Kessel AG, Schoenmakers EF, Veltman JA. Vissers LE, et al. Among authors: smeets d. Am J Hum Genet. 2003 Dec;73(6):1261-70. doi: 10.1086/379977. Epub 2003 Nov 18. Am J Hum Genet. 2003. PMID: 14628292 Free PMC article.

10

Misinterpretation of trisomy 18 as a pseudomosaicism at third-trimester amniocentesis of a child with a mosaic 46,XY/47,XY, +3/48,XXY, +18 karyotype.

van Ravenswaaij-Arts CM, Tuerlings JH, Van Heyst AF, Nijhuis JG, Niehof J, Smeets DF. van Ravenswaaij-Arts CM, et al. Among authors: smeets df. Prenat Diagn. 1997 Apr;17(4):375-9. doi: 10.1002/(sici)1097-0223(199704)17:4<375::aid-pd55>3.0.co;2-v. Prenat Diagn. 1997. PMID: 9160391

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