Mieloo H - Search Results

1

Identification of an unbalanced cryptic translocation between the chromosomes 8 and 13 in two sisters with mild mental retardation accompanied by mild dysmorphic features.

Kleefstra T, van de Zande G, Merkx G, Mieloo H, Hoovers JM, Smeets D. Kleefstra T, et al. Among authors: mieloo h. Eur J Hum Genet. 2000 Aug;8(8):637-40. doi: 10.1038/sj.ejhg.5200500. Eur J Hum Genet. 2000. PMID: 10951526

2

Cryptic duplication of the distal segment of 22q due to a translocation (21;22): three case reports and a review of the literature.

Feenstra I, Koolen DA, Van der Pas J, Hamel BC, Mieloo H, Smeets DF, Van Ravenswaaij CM. Feenstra I, et al. Among authors: mieloo h. Eur J Med Genet. 2006 Sep-Oct;49(5):384-95. doi: 10.1016/j.ejmg.2006.01.005. Epub 2006 Feb 9. Eur J Med Genet. 2006. PMID: 16503209 Review.

3

Buccal cell FISH and blood PCR-Y detect high rates of X chromosomal mosaicism and Y chromosomal derivatives in patients with Turner syndrome.

Freriks K, Timmers HJ, Netea-Maier RT, Beerendonk CC, Otten BJ, van Alfen-van der Velden JA, Traas MA, Mieloo H, van de Zande GW, Hoefsloot LH, Hermus AR, Smeets DF. Freriks K, et al. Among authors: mieloo h. Eur J Med Genet. 2013 Sep;56(9):497-501. doi: 10.1016/j.ejmg.2013.07.008. Epub 2013 Aug 9. Eur J Med Genet. 2013. PMID: 23933507

4

Down-Turner syndrome: case report and review.

Van Buggenhout GJ, Hamel BC, Trommelen JC, Mieloo H, Smeets DF. Van Buggenhout GJ, et al. Among authors: mieloo h. J Med Genet. 1994 Oct;31(10):807-10. doi: 10.1136/jmg.31.10.807. J Med Genet. 1994. PMID: 7837259 Free PMC article. Review.

5

Phenotypic spectrum of 20 novel patients with molecularly defined supernumerary marker chromosomes 15 and a review of the literature.

Kleefstra T, de Leeuw N, Wolf R, Nillesen WM, Schobers G, Mieloo H, Willemsen M, Perrotta CS, Poddighe PJ, Feenstra I, Draaisma J, van Ravenswaaij-Arts CM. Kleefstra T, et al. Among authors: mieloo h. Am J Med Genet A. 2010 Sep;152A(9):2221-9. doi: 10.1002/ajmg.a.33529. Am J Med Genet A. 2010. PMID: 20683990 Review.

6

A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis.

de Leeuw N, Pfundt R, Koolen DA, Neefs I, Scheltinga I, Mieloo H, Sistermans EA, Nillesen W, Smeets DF, de Vries BB, Knoers NV. de Leeuw N, et al. Among authors: mieloo h. J Med Genet. 2008 Feb;45(2):122-4. doi: 10.1136/jmg.2007.054049. J Med Genet. 2008. PMID: 18245392 No abstract available.

7

Dysmorphology and mental retardation: molecular cytogenetic studies in dysmorphic mentally retarded patients.

Van Buggenhout GJ, van Ravenswaaij-Arts C, Mieloo H, Syrrou M, Hamel B, Brunner H, Fryns JP. Van Buggenhout GJ, et al. Among authors: mieloo h. Ann Genet. 2001 Apr-Jun;44(2):89-92. doi: 10.1016/s0003-3995(01)01044-9. Ann Genet. 2001. PMID: 11522247

8

A new case of dup(1)(q21.2q12) in an individual with mild mental retardation.

Faas BH, Mieloo H, Van Es-Van Gaal JW, Van Ravenswaaij C. Faas BH, et al. Among authors: mieloo h. Genet Couns. 2003;14(4):407-11. Genet Couns. 2003. PMID: 14738114

9

Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies.

Nowakowska BA, de Leeuw N, Ruivenkamp CA, Sikkema-Raddatz B, Crolla JA, Thoelen R, Koopmans M, den Hollander N, van Haeringen A, van der Kevie-Kersemaekers AM, Pfundt R, Mieloo H, van Essen T, de Vries BB, Green A, Reardon W, Fryns JP, Vermeesch JR. Nowakowska BA, et al. Among authors: mieloo h. Eur J Hum Genet. 2012 Feb;20(2):166-70. doi: 10.1038/ejhg.2011.157. Epub 2011 Sep 14. Eur J Hum Genet. 2012. PMID: 21915152 Free PMC article.

10

Two adjacent microdeletions in 8q11.2 cause a phenotype suggestive of the 22q11 deletion syndrome.

Ockeloen CW, de Leeuw N, Mieloo H, Reijnen IGM, de Vries BBA. Ockeloen CW, et al. Among authors: mieloo h. Clin Dysmorphol. 2010 Jul;19(3):137-139. doi: 10.1097/MCD.0b013e328338807d. Clin Dysmorphol. 2010. PMID: 20357662 No abstract available.

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