Hordijk R - Search Results

1

Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy.

Rust S, Walter M, Funke H, von Eckardstein A, Cullen P, Kroes HY, Hordijk R, Geisel J, Kastelein J, Molhuizen HO, Schreiner M, Mischke A, Hahmann HW, Assmann G. Rust S, et al. Among authors: hordijk r. Nat Genet. 1998 Sep;20(1):96-8. doi: 10.1038/1770. Nat Genet. 1998. PMID: 9731541

2

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.

3

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.

4

Chromosome studies in 1792 males prior to intra-cytoplasmic sperm injection: the Dutch experience.

Tuerlings JH, de France HF, Hamers A, Hordijk R, Van Hemel JO, Hansson K, Hoovers JM, Madan K, Van der Blij-Philipsen M, Gerssen-Schoorl KB, Kremer JA, Smeets DF. Tuerlings JH, et al. Among authors: hordijk r. Eur J Hum Genet. 1998 May-Jun;6(3):194-200. doi: 10.1038/sj.ejhg.5200193. Eur J Hum Genet. 1998. PMID: 9781022

5

Subfertile men with constitutive chromosome abnormalities do not necessarily refrain from intracytoplasmic sperm injection treatment: a follow-up study on 75 Dutch patients.

Giltay JC, Kastrop PM, Tuerlings JH, Kremer JA, Tiemessen CH, Gerssen-Schoorl KB, van der Veen F, de Vries J, Hordijk R, Hamers GJ, Hansson K, van der Blij-Philipsen M, Govaerts LC, Pieters MH, Madan K, Scheres JM. Giltay JC, et al. Among authors: hordijk r. Hum Reprod. 1999 Feb;14(2):318-20. doi: 10.1093/humrep/14.2.318. Hum Reprod. 1999. PMID: 10099971

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

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.

8

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

9

Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH).

Maas NM, Van Buggenhout G, Hannes F, Thienpont B, Sanlaville D, Kok K, Midro A, Andrieux J, Anderlid BM, Schoumans J, Hordijk R, Devriendt K, Fryns JP, Vermeesch JR. Maas NM, et al. Among authors: hordijk r. J Med Genet. 2008 Feb;45(2):71-80. doi: 10.1136/jmg.2007.052910. Epub 2007 Sep 14. J Med Genet. 2008. PMID: 17873117

10

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

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