Gijsbers AC - Search Results

1

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation.

Bijlsma EK, Collins A, Papa FT, Tejada MI, Wheeler P, Peeters EA, Gijsbers AC, van de Kamp JM, Kriek M, Losekoot M, Broekma AJ, Crolla JA, Pollazzon M, Mucciolo M, Katzaki E, Disciglio V, Ferreri MI, Marozza A, Mencarelli MA, Castagnini C, Dosa L, Ariani F, Mari F, Canitano R, Hayek G, Botella MP, Gener B, Mínguez M, Renieri A, Ruivenkamp CA. Bijlsma EK, et al. Among authors: gijsbers ac. Eur J Med Genet. 2012 Jun;55(6-7):404-13. doi: 10.1016/j.ejmg.2012.02.009. Epub 2012 Mar 29. Eur J Med Genet. 2012. PMID: 22522176 Free PMC article.

2

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

3

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

4

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

5

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

6

A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents.

Knijnenburg J, Oberstein SA, Frei K, Lucas T, Gijsbers AC, Ruivenkamp CA, Tanke HJ, Szuhai K. Knijnenburg J, et al. Among authors: gijsbers ac. J Med Genet. 2009 Jun;46(6):412-7. doi: 10.1136/jmg.2008.063685. Epub 2009 Feb 25. J Med Genet. 2009. PMID: 19246478

7

Interpretation of array comparative genome hybridization data: a major challenge.

Gijsbers AC, Schoumans J, Ruivenkamp CA. Gijsbers AC, et al. Cytogenet Genome Res. 2011;135(3-4):222-7. doi: 10.1159/000334066. Epub 2011 Nov 12. Cytogenet Genome Res. 2011. PMID: 22086107 Review.

8

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.

9

A 797 kb de novo deletion of 18q21.31 in a patient with speech delay, mental retardation, sleeping problems, facial dysmorphism, and feet anomalies.

van Diepen MM, Gijsbers AC, Bosch CA, Oudesluys-Murphy AM, Ruivenkamp CA, Bijlsma EK. van Diepen MM, et al. Among authors: gijsbers ac. Eur J Med Genet. 2011 Jan-Feb;54(1):86-8. doi: 10.1016/j.ejmg.2010.09.003. Epub 2010 Sep 24. Eur J Med Genet. 2011. PMID: 20870045

10

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

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