Hordijk R - Search Results

1

Chorioretinal dysplasia-microcephaly-mental retardation syndrome: another family with autosomal dominant inheritance.

Hordijk R, Van de Logt F, Houtman WA, Van Essen AJ. Hordijk R, et al. Genet Couns. 1996;7(2):113-22. Genet Couns. 1996. PMID: 8831130

2

Pigmentary mosaicism following the lines of Blaschko in a girl with a double aneuploidy mosaicism: (47,XX,+7/45,X).

Niessen RC, Jonkman MF, Muis N, Hordijk R, van Essen AJ. Niessen RC, et al. Among authors: hordijk r. Am J Med Genet A. 2005 Sep 1;137A(3):313-22. doi: 10.1002/ajmg.a.30876. Am J Med Genet A. 2005. PMID: 16092121 Review.

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: hordijk r. 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

Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics.

Hanemaaijer NM, Sikkema-Raddatz B, van der Vries G, Dijkhuizen T, Hordijk R, van Essen AJ, Veenstra-Knol HE, Kerstjens-Frederikse WS, Herkert JC, Gerkes EH, Leegte LK, Kok K, Sinke RJ, van Ravenswaaij-Arts CM. Hanemaaijer NM, et al. Among authors: hordijk r. Eur J Hum Genet. 2012 Feb;20(2):161-5. doi: 10.1038/ejhg.2011.174. Epub 2011 Sep 21. Eur J Hum Genet. 2012. PMID: 21934709 Free PMC article.

5

Another patient with an interstitial deletion of chromosome 9: case report and a review of six cases with del(9)(q22q32).

Kroes HY, Tuerlings JH, Hordijk R, Folkers NR, ten Kate LP. Kroes HY, et al. Among authors: hordijk r. J Med Genet. 1994 Feb;31(2):156-8. doi: 10.1136/jmg.31.2.156. J Med Genet. 1994. PMID: 8182726 Free PMC article. Review.

6

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. Among authors: hordijk r. 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

7

Three cases of mosaicism for balanced reciprocal translocations.

Leegte B, Sikkema-Raddatz B, Hordijk R, Bouman K, van Essen T, Castedo S, de Jong B. Leegte B, et al. Among authors: hordijk r. Am J Med Genet. 1998 Oct 12;79(5):362-5. Am J Med Genet. 1998. PMID: 9779802 Review.

8

A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature.

Hanemaaijer N, Dijkhuizen T, Haadsma M, Boeve M, Boon M, Hordijk R, Kok K, Sikkema-Raddatz B, van Ravenswaaij-Arts CM. Hanemaaijer N, et al. Among authors: hordijk r. Eur J Med Genet. 2009 Mar-Jun;52(2-3):116-9. doi: 10.1016/j.ejmg.2009.01.005. Eur J Med Genet. 2009. PMID: 19452620 Review.

9

Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype.

Hordijk R, Wierenga H, Scheffer H, Leegte B, Hofstra RM, Stolte-Dijkstra I. Hordijk R, et al. J Med Genet. 1999 Oct;36(10):782-5. doi: 10.1136/jmg.36.10.782. J Med Genet. 1999. PMID: 10528860 Free PMC article. Review.

10

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. Among authors: hordijk r. 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

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