van Ravenswaaij-Arts CMA - Search Results

1

Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis.

Gustafson J, Bjork M, van Ravenswaaij-Arts CMA, Cunningham ML. Gustafson J, et al. Case Rep Genet. 2022 Mar 26;2022:3239260. doi: 10.1155/2022/3239260. eCollection 2022. Case Rep Genet. 2022. PMID: 35378950 Free PMC article.

2

A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome).

Hofstra RM, Osinga J, Tan-Sindhunata G, Wu Y, Kamsteeg EJ, Stulp RP, van Ravenswaaij-Arts C, Majoor-Krakauer D, Angrist M, Chakravarti A, Meijers C, Buys CH. Hofstra RM, et al. Nat Genet. 1996 Apr;12(4):445-7. doi: 10.1038/ng0496-445. Nat Genet. 1996. PMID: 8630503 Free article.

3

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

4

Death in CHARGE syndrome after the neonatal period.

Bergman JE, Blake KD, Bakker MK, du Marchie Sarvaas GJ, Free RH, van Ravenswaaij-Arts CM. Bergman JE, et al. Clin Genet. 2010 Mar;77(3):232-40. doi: 10.1111/j.1399-0004.2009.01334.x. Clin Genet. 2010. PMID: 20447140

5

CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.

Bergman JE, Janssen N, Hoefsloot LH, Jongmans MC, Hofstra RM, van Ravenswaaij-Arts CM. Bergman JE, et al. J Med Genet. 2011 May;48(5):334-42. doi: 10.1136/jmg.2010.087106. Epub 2011 Mar 4. J Med Genet. 2011. PMID: 21378379 Review.

6

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.

Rivière JB, van Bon BW, Hoischen A, Kholmanskikh SS, O'Roak BJ, Gilissen C, Gijsen S, Sullivan CT, Christian SL, Abdul-Rahman OA, Atkin JF, Chassaing N, Drouin-Garraud V, Fry AE, Fryns JP, Gripp KW, Kempers M, Kleefstra T, Mancini GM, Nowaczyk MJ, van Ravenswaaij-Arts CM, Roscioli T, Marble M, Rosenfeld JA, Siu VM, de Vries BB, Shendure J, Verloes A, Veltman JA, Brunner HG, Ross ME, Pilz DT, Dobyns WB. Rivière JB, et al. Nat Genet. 2012 Feb 26;44(4):440-4, S1-2. doi: 10.1038/ng.1091. Nat Genet. 2012. PMID: 22366783 Free PMC article.

7

A unique 970kb microdeletion in 9q33.3, including the NR5A1 gene in a 46,XY female.

van Silfhout A, Boot AM, Dijkhuizen T, Hoek A, Nijman R, Sikkema-Raddatz B, van Ravenswaaij-Arts CM. van Silfhout A, et al. Eur J Med Genet. 2009 Mar-Jun;52(2-3):157-60. doi: 10.1016/j.ejmg.2009.02.009. Epub 2009 Mar 6. Eur J Med Genet. 2009. PMID: 19269353

8

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.

9

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

10

Bilateral polymicrogyria as the indicative feature in a child with a 22q11.2 deletion.

Gerkes EH, Hordijk R, Dijkhuizen T, Sival DA, Meiners LC, Sikkema-Raddatz B, van Ravenswaaij-Arts CM. Gerkes EH, et al. Eur J Med Genet. 2010 Sep-Oct;53(5):344-6. doi: 10.1016/j.ejmg.2010.05.003. Epub 2010 May 27. Eur J Med Genet. 2010. PMID: 20553986

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