Vermeesch JR - Search Results

1

Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis.

Guo X, Delio M, Haque N, Castellanos R, Hestand MS, Vermeesch JR, Morrow BE, Zheng D. Guo X, et al. Among authors: vermeesch jr. Hum Mol Genet. 2016 Sep 1;25(17):3754-3767. doi: 10.1093/hmg/ddw221. Epub 2016 Jul 19. Hum Mol Genet. 2016. PMID: 27436579 Free PMC article.

2

Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1.

Devriendt K, Matthijs G, Van Dael R, Gewillig M, Eyskens B, Hjalgrim H, Dolmer B, McGaughran J, Bröndum-Nielsen K, Marynen P, Fryns JP, Vermeesch JR. Devriendt K, et al. Among authors: vermeesch jr. Am J Hum Genet. 1999 Apr;64(4):1119-26. doi: 10.1086/302330. Am J Hum Genet. 1999. PMID: 10090897 Free PMC article.

3

Large deletions of the APC gene in 15% of mutation-negative patients with classical polyposis (FAP): a Belgian study.

Michils G, Tejpar S, Thoelen R, van Cutsem E, Vermeesch JR, Fryns JP, Legius E, Matthijs G. Michils G, et al. Among authors: vermeesch jr. Hum Mutat. 2005 Feb;25(2):125-34. doi: 10.1002/humu.20122. Hum Mutat. 2005. PMID: 15643602

4

Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis.

Van Esch H, Hollanders K, Badisco L, Melotte C, Van Hummelen P, Vermeesch JR, Devriendt K, Fryns JP, Marynen P, Froyen G. Van Esch H, et al. Among authors: vermeesch jr. Hum Mol Genet. 2005 Jul 1;14(13):1795-803. doi: 10.1093/hmg/ddi186. Epub 2005 May 11. Hum Mol Genet. 2005. PMID: 15888481

5

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: vermeesch jr. 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

6

Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16.

Balikova I, Martens K, Melotte C, Amyere M, Van Vooren S, Moreau Y, Vetrie D, Fiegler H, Carter NP, Liehr T, Vikkula M, Matthijs G, Fryns JP, Casteels I, Devriendt K, Vermeesch JR. Balikova I, et al. Among authors: vermeesch jr. Am J Hum Genet. 2008 Jan;82(1):181-7. doi: 10.1016/j.ajhg.2007.08.001. Am J Hum Genet. 2008. PMID: 18179897 Free PMC article.

7

A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay.

Breckpot J, Takiyama Y, Thienpont B, Van Vooren S, Vermeesch JR, Ortibus E, Devriendt K. Breckpot J, et al. Among authors: vermeesch jr. Eur J Hum Genet. 2008 Sep;16(9):1050-4. doi: 10.1038/ejhg.2008.58. Epub 2008 Apr 9. Eur J Hum Genet. 2008. PMID: 18398442

8

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.

Hannes FD, Sharp AJ, Mefford HC, de Ravel T, Ruivenkamp CA, Breuning MH, Fryns JP, Devriendt K, Van Buggenhout G, Vogels A, Stewart H, Hennekam RC, Cooper GM, Regan R, Knight SJ, Eichler EE, Vermeesch JR. Hannes FD, et al. Among authors: vermeesch jr. J Med Genet. 2009 Apr;46(4):223-32. doi: 10.1136/jmg.2007.055202. Epub 2008 Jun 11. J Med Genet. 2009. PMID: 18550696 Free PMC article.

9

Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome.

de Ravel TJ, Balikova I, Thiry P, Vermeesch JR, Frijns JP. de Ravel TJ, et al. Among authors: vermeesch jr. Eur J Med Genet. 2009 Mar-Jun;52(2-3):120-2. doi: 10.1016/j.ejmg.2009.01.002. Epub 2009 Jan 22. Eur J Med Genet. 2009. PMID: 19284984

10

Refining the locus of branchio-otic syndrome 2 (BOS2) to a 5.25 Mb locus on chromosome 1q31.3q32.1.

Thienpont B, Dimitriadou E, Theodoropoulos K, Breckpot J, Fryssira H, Kitsiou-Tzeli S, Tzoufi M, Vermeesch JR, Syrrou M, Devriendt K. Thienpont B, et al. Among authors: vermeesch jr. Eur J Med Genet. 2009 Nov-Dec;52(6):393-7. doi: 10.1016/j.ejmg.2009.09.005. Epub 2009 Sep 17. Eur J Med Genet. 2009. PMID: 19772953

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

378 results

Search Page

Filters