Coucke PJ - Search Results

1

Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa.

Coppieters F, Leroy BP, Beysen D, Hellemans J, De Bosscher K, Haegeman G, Robberecht K, Wuyts W, Coucke PJ, De Baere E. Coppieters F, et al. Among authors: coucke pj. Am J Hum Genet. 2007 Jul;81(1):147-57. doi: 10.1086/518426. Epub 2007 May 24. Am J Hum Genet. 2007. PMID: 17564971 Free PMC article.

2

Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips.

Hellemans J, Coucke PJ, Giedion A, De Paepe A, Kramer P, Beemer F, Mortier GR. Hellemans J, et al. Among authors: coucke pj. Am J Hum Genet. 2003 Apr;72(4):1040-6. doi: 10.1086/374318. Epub 2003 Mar 11. Am J Hum Genet. 2003. PMID: 12632327 Free PMC article.

3

Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.

Coppieters F, Casteels I, Meire F, De Jaegere S, Hooghe S, van Regemorter N, Van Esch H, Matuleviciene A, Nunes L, Meersschaut V, Walraedt S, Standaert L, Coucke P, Hoeben H, Kroes HY, Vande Walle J, de Ravel T, Leroy BP, De Baere E. Coppieters F, et al. Hum Mutat. 2010 Oct;31(10):E1709-66. doi: 10.1002/humu.21336. Hum Mutat. 2010. PMID: 20683928 Free PMC article.

4

Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: evidence for a spectrum of ectopic calcification disorders?

Vanakker OM, Leroy BP, Schurgers LJ, Vermeer C, Coucke PJ, De Paepe A. Vanakker OM, et al. Among authors: coucke pj. Am J Med Genet A. 2011 Nov;155A(11):2855-9. doi: 10.1002/ajmg.a.34264. Epub 2011 Sep 30. Am J Med Genet A. 2011. PMID: 21964806

5

Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis.

Hellemans J, Debeer P, Wright M, Janecke A, Kjaer KW, Verdonk PC, Savarirayan R, Basel L, Moss C, Roth J, David A, De Paepe A, Coucke P, Mortier GR. Hellemans J, et al. Hum Mutat. 2006 Mar;27(3):290. doi: 10.1002/humu.9403. Hum Mutat. 2006. PMID: 16470551

6

Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart.

Vanakker OM, Leroy BP, Coucke P, Bercovitch LG, Uitto J, Viljoen D, Terry SF, Van Acker P, Matthys D, Loeys B, De Paepe A. Vanakker OM, et al. Hum Mutat. 2008 Jan;29(1):205. doi: 10.1002/humu.9514. Hum Mutat. 2008. PMID: 18157818

7

Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice.

De Leeneer K, Hellemans J, Steyaert W, Lefever S, Vereecke I, Debals E, Crombez B, Baetens M, Van Heetvelde M, Coppieters F, Vandesompele J, De Jaegher A, De Baere E, Coucke P, Claes K. De Leeneer K, et al. Hum Mutat. 2015 Mar;36(3):379-87. doi: 10.1002/humu.22739. Hum Mutat. 2015. PMID: 25504618

8

Clinical and subclinical findings in heterozygous ABCC6 carriers: results from a Belgian cohort and clinical practice guidelines.

Nollet L, Campens L, De Zaeytijd J, Leroy B, Hemelsoet D, Coucke PJ, Vanakker OM. Nollet L, et al. Among authors: coucke pj. J Med Genet. 2022 May;59(5):496-504. doi: 10.1136/jmedgenet-2020-107565. Epub 2021 Apr 5. J Med Genet. 2022. PMID: 33820832

9

Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.

Hellemans J, Preobrazhenska O, Willaert A, Debeer P, Verdonk PC, Costa T, Janssens K, Menten B, Van Roy N, Vermeulen SJ, Savarirayan R, Van Hul W, Vanhoenacker F, Huylebroeck D, De Paepe A, Naeyaert JM, Vandesompele J, Speleman F, Verschueren K, Coucke PJ, Mortier GR. Hellemans J, et al. Among authors: coucke pj. Nat Genet. 2004 Nov;36(11):1213-8. doi: 10.1038/ng1453. Epub 2004 Oct 17. Nat Genet. 2004. PMID: 15489854

10

Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome.

De Backer J, Loeys B, Leroy B, Coucke P, Dietz H, De Paepe A. De Backer J, et al. Clin Genet. 2007 Sep;72(3):188-98. doi: 10.1111/j.1399-0004.2007.00845.x. Clin Genet. 2007. PMID: 17718856

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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

279 results

Search Page