Gijsbers AC - Search Results

1

A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first.

Gijsbers AC, Lew JY, Bosch CA, Schuurs-Hoeijmakers JH, van Haeringen A, den Hollander NS, Kant SG, Bijlsma EK, Breuning MH, Bakker E, Ruivenkamp CA. Gijsbers AC, et al. Eur J Hum Genet. 2009 Nov;17(11):1394-402. doi: 10.1038/ejhg.2009.74. Epub 2009 May 13. Eur J Hum Genet. 2009. PMID: 19436329 Free PMC article.

2

Genome-wide SNP array analysis in patients with features of sotos syndrome.

Visser R, Gijsbers A, Ruivenkamp C, Karperien M, Reeser HM, Breuning MH, Kant SG, Wit JM. Visser R, et al. Horm Res Paediatr. 2010;73(4):265-74. doi: 10.1159/000284391. Epub 2010 Mar 9. Horm Res Paediatr. 2010. PMID: 20215773

3

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. Among authors: gijsbers ac. 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

4

A subtle familial translocation t(3;21)(p26.3;q22.3): an apparently healthy boy with a 3p deletion and 21q duplication.

Gijsbers AC, van Haeringen A, Bosch CA, Hansson K, Verschuren M, Bakker E, Breuning MH, Ruivenkamp CA. Gijsbers AC, et al. Cytogenet Genome Res. 2010 Jun;128(4):245-9. doi: 10.1159/000302497. Epub 2010 Apr 30. Cytogenet Genome Res. 2010. PMID: 20431279

5

X-chromosome duplications in males with mental retardation: pathogenic or benign variants?

Gijsbers AC, den Hollander NS, Helderman-van de Enden AT, Schuurs-Hoeijmakers JH, Vijfhuizen L, Bijlsma EK, van Haeringen A, Hansson KB, Bakker E, Breuning MH, Ruivenkamp CA. Gijsbers AC, et al. Clin Genet. 2011 Jan;79(1):71-8. doi: 10.1111/j.1399-0004.2010.01438.x. Clin Genet. 2011. PMID: 20486941

6

A 400kb duplication, 2.4Mb triplication and 130kb duplication of 9q34.3 in a patient with severe mental retardation.

Gijsbers AC, Bijlsma EK, Weiss MM, Bakker E, Breuning MH, Hoffer MJ, Ruivenkamp CA. Gijsbers AC, et al. Eur J Med Genet. 2008 Sep-Oct;51(5):479-87. doi: 10.1016/j.ejmg.2008.04.003. Epub 2008 May 3. Eur J Med Genet. 2008. PMID: 18547887

7

Identification of copy number variants associated with BPES-like phenotypes.

Gijsbers AC, D'haene B, Hilhorst-Hofstee Y, Mannens M, Albrecht B, Seidel J, Witt DR, Maisenbacher MK, Loeys B, van Essen T, Bakker E, Hennekam R, Breuning MH, De Baere E, Ruivenkamp CA. Gijsbers AC, et al. Hum Genet. 2008 Dec;124(5):489-98. doi: 10.1007/s00439-008-0574-9. Epub 2008 Oct 25. Hum Genet. 2008. PMID: 18953567

8

Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes.

Gijsbers AC, Bosch CA, Dauwerse JG, Giromus O, Hansson K, Hilhorst-Hofstee Y, Kriek M, van Haeringen A, Bijlsma EK, Bakker E, Breuning MH, Ruivenkamp CA. Gijsbers AC, et al. Eur J Med Genet. 2010 Sep-Oct;53(5):227-33. doi: 10.1016/j.ejmg.2010.06.003. Epub 2010 Jun 11. Eur J Med Genet. 2010. PMID: 20542150

9

Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocation.

Gijsbers AC, Dauwerse JG, Bosch CA, Boon EM, van den Ende W, Kant SG, Hansson KM, Breuning MH, Bakker E, Ruivenkamp CA. Gijsbers AC, et al. Eur J Med Genet. 2011 Jul-Aug;54(4):e409-12. doi: 10.1016/j.ejmg.2011.05.002. Epub 2011 May 23. Eur J Med Genet. 2011. PMID: 21664500

10

Molecular karyotyping: from microscope to SNP arrays.

Gijsbers AC, Ruivenkamp CA. Gijsbers AC, et al. Horm Res Paediatr. 2011;76(3):208-13. doi: 10.1159/000330406. Epub 2011 Aug 25. Horm Res Paediatr. 2011. PMID: 21865676 Review.

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