van Ravenswaaij-Arts CM - Search Results

1

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.

2

Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24.

van der Vleuten AJ, van Ravenswaaij-Arts CM, Frijns CJ, Smits AP, Hageman G, Padberg GW, Kremer H. van der Vleuten AJ, et al. Eur J Hum Genet. 1998 Jul-Aug;6(4):376-82. doi: 10.1038/sj.ejhg.5200229. Eur J Hum Genet. 1998. PMID: 9781046 Free article.

3

Dysmorphology and mental retardation: molecular cytogenetic studies in dysmorphic mentally retarded patients.

Van Buggenhout GJ, van Ravenswaaij-Arts C, Mieloo H, Syrrou M, Hamel B, Brunner H, Fryns JP. Van Buggenhout GJ, et al. Ann Genet. 2001 Apr-Jun;44(2):89-92. doi: 10.1016/s0003-3995(01)01044-9. Ann Genet. 2001. PMID: 11522247

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. 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

Telomeres: a diagnosis at the end of the chromosomes.

De Vries BB, Winter R, Schinzel A, van Ravenswaaij-Arts C. De Vries BB, et al. J Med Genet. 2003 Jun;40(6):385-98. doi: 10.1136/jmg.40.6.385. J Med Genet. 2003. PMID: 12807958 Free PMC article. Review.

6

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

7

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. 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.

8

Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation.

Koolen DA, Reardon W, Rosser EM, Lacombe D, Hurst JA, Law CJ, Bongers EM, van Ravenswaaij-Arts CM, Leisink MA, van Kessel AG, Veltman JA, de Vries BB. Koolen DA, et al. Eur J Hum Genet. 2005 Sep;13(9):1019-24. doi: 10.1038/sj.ejhg.5201456. Eur J Hum Genet. 2005. PMID: 15986041

9

Diagnostic genome profiling in mental retardation.

de Vries BB, Pfundt R, Leisink M, Koolen DA, Vissers LE, Janssen IM, Reijmersdal Sv, Nillesen WM, Huys EH, Leeuw Nd, Smeets D, Sistermans EA, Feuth T, van Ravenswaaij-Arts CM, van Kessel AG, Schoenmakers EF, Brunner HG, Veltman JA. de Vries BB, et al. Am J Hum Genet. 2005 Oct;77(4):606-16. doi: 10.1086/491719. Epub 2005 Aug 30. Am J Hum Genet. 2005. PMID: 16175506 Free PMC article.

10

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

164 results

Search Page

Filters