van Ravenswaaij-Arts CMA - Search Results

1

Molecular and clinical studies in 8 patients with Temple syndrome.

Gillessen-Kaesbach G, Albrecht B, Eggermann T, Elbracht M, Mitter D, Morlot S, van Ravenswaaij-Arts CMA, Schulz S, Strobl-Wildemann G, Buiting K, Beygo J. Gillessen-Kaesbach G, et al. Clin Genet. 2018 Jun;93(6):1179-1188. doi: 10.1111/cge.13244. Epub 2018 Mar 25. Clin Genet. 2018. PMID: 29468661

2

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. 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

3

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

4

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

5

CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome.

Jongmans MC, van Ravenswaaij-Arts CM, Pitteloud N, Ogata T, Sato N, Claahsen-van der Grinten HL, van der Donk K, Seminara S, Bergman JE, Brunner HG, Crowley WF Jr, Hoefsloot LH. Jongmans MC, et al. Clin Genet. 2009 Jan;75(1):65-71. doi: 10.1111/j.1399-0004.2008.01107.x. Epub 2008 Nov 17. Clin Genet. 2009. PMID: 19021638 Free PMC article.

6

Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances.

Doornbos M, Sikkema-Raddatz B, Ruijvenkamp CA, Dijkhuizen T, Bijlsma EK, Gijsbers AC, Hilhorst-Hofstee Y, Hordijk R, Verbruggen KT, Kerstjens-Frederikse WS, van Essen T, Kok K, van Silfhout AT, Breuning M, van Ravenswaaij-Arts CM. Doornbos M, et al. Eur J Med Genet. 2009 Mar-Jun;52(2-3):108-15. doi: 10.1016/j.ejmg.2009.03.010. Epub 2009 Mar 27. Eur J Med Genet. 2009. PMID: 19328872

7

Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism.

van Silfhout AT, van den Akker PC, Dijkhuizen T, Verheij JB, Olderode-Berends MJ, Kok K, Sikkema-Raddatz B, van Ravenswaaij-Arts CM. van Silfhout AT, et al. Eur J Hum Genet. 2009 Nov;17(11):1432-8. doi: 10.1038/ejhg.2009.72. Epub 2009 Apr 29. Eur J Hum Genet. 2009. PMID: 19401716 Free PMC article.

8

Study of smell and reproductive organs in a mouse model for CHARGE syndrome.

Bergman JE, Bosman EA, van Ravenswaaij-Arts CM, Steel KP. Bergman JE, et al. Eur J Hum Genet. 2010 Feb;18(2):171-7. doi: 10.1038/ejhg.2009.158. Epub 2009 Oct 7. Eur J Hum Genet. 2010. PMID: 19809474 Free PMC article.

9

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

10

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. 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

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