Sikkema-Raddatz B - Search Results

1

Rump P, de Leeuw N, van Essen AJ, Verschuuren-Bemelmans CC, Veenstra-Knol HE, Swinkels ME, Oostdijk W, Ruivenkamp C, Reardon W, de Munnik S, Ruiter M, Frumkin A, Lev D, Evers C, Sikkema-Raddatz B, Dijkhuizen T, van Ravenswaaij-Arts CM. Rump P, et al. Am J Med Genet A. 2014 Nov;164A(11):2707-23. doi: 10.1002/ajmg.a.36711. Epub 2014 Aug 14. Am J Med Genet A. 2014. PMID: 25123976

2

Trisomy 12 mosaicism in CVS culture confirmed in the fetus.

Sikkema-Raddatz B, Bouman K, Verschuuren-Bemelmans CC, de Jong B. Sikkema-Raddatz B, et al. Prenat Diagn. 1999 Dec;19(12):1176-7. Prenat Diagn. 1999. PMID: 10590440 No abstract available.

3

Four years' cytogenetic experience with the culture of chorionic villi.

Sikkema-Raddatz B, Bouman K, Verschuuren-Bemelmans CC, Stoepker M, Mantingh A, Beekhuis JR, de Jong B. Sikkema-Raddatz B, et al. Prenat Diagn. 2000 Dec;20(12):950-5. Prenat Diagn. 2000. PMID: 11113906

4

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. 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

5

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. 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

6

Mosaic isodicentric chromosome 18q: sixth report and review.

Oudesluijs GG, Hulzebos CV, Sikkema-Raddatz B, Van Essen AJ. Oudesluijs GG, et al. Genet Couns. 2006;17(4):395-400. Genet Couns. 2006. PMID: 17375524

7

Drayer's syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2-->qter).

Rump P, Dijkhuizen T, Sikkema-Raddatz B, Lemmink HH, Vos YJ, Verheij JB, van Ravenswaaij CM. Rump P, et al. Clin Genet. 2008 Nov;74(5):455-62. doi: 10.1111/j.1399-0004.2008.01064.x. Epub 2008 Jul 21. Clin Genet. 2008. PMID: 18651844

8

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

9

Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals.

Bijlsma EK, Gijsbers AC, Schuurs-Hoeijmakers JH, van Haeringen A, Fransen van de Putte DE, Anderlid BM, Lundin J, Lapunzina P, Pérez Jurado LA, Delle Chiaie B, Loeys B, Menten B, Oostra A, Verhelst H, Amor DJ, Bruno DL, van Essen AJ, Hordijk R, Sikkema-Raddatz B, Verbruggen KT, Jongmans MC, Pfundt R, Reeser HM, Breuning MH, Ruivenkamp CA. Bijlsma EK, et al. Eur J Med Genet. 2009 Mar-Jun;52(2-3):77-87. doi: 10.1016/j.ejmg.2009.03.006. Epub 2009 Mar 21. Eur J Med Genet. 2009. PMID: 19306953

10

The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: report on two patients and review of the literature.

Raas-Rothschild A, Dijkhuizen T, Sikkema-Raddatz B, Werner M, Dagan J, Abeliovich D, Lerer I. Raas-Rothschild A, et al. Eur J Med Genet. 2009 Mar-Jun;52(2-3):140-4. doi: 10.1016/j.ejmg.2009.03.011. Epub 2009 Mar 26. Eur J Med Genet. 2009. PMID: 19328248 Review.

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