Courtens W - Search Results

1

Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation.

De Baere E, Dixon MJ, Small KW, Jabs EW, Leroy BP, Devriendt K, Gillerot Y, Mortier G, Meire F, Van Maldergem L, Courtens W, Hjalgrim H, Huang S, Liebaers I, Van Regemorter N, Touraine P, Praphanphoj V, Verloes A, Udar N, Yellore V, Chalukya M, Yelchits S, De Paepe A, Kuttenn F, Fellous M, Veitia R, Messiaen L. De Baere E, et al. Among authors: courtens w. Hum Mol Genet. 2001 Jul 15;10(15):1591-600. doi: 10.1093/hmg/10.15.1591. Hum Mol Genet. 2001. PMID: 11468277

2

FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions.

D'haene B, Nevado J, Pugeat M, Pierquin G, Lowry RB, Reardon W, Delicado A, García-Miñaur S, Palomares M, Courtens W, Stefanova M, Wallace S, Watkins W, Shelling AN, Wieczorek D, Veitia RA, De Paepe A, Lapunzina P, De Baere E. D'haene B, et al. Among authors: courtens w. Hum Mutat. 2010 May;31(5):E1332-47. doi: 10.1002/humu.21233. Hum Mutat. 2010. PMID: 20232352

3

The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene.

Hoornaert KP, Dewinter C, Vereecke I, Beemer FA, Courtens W, Fryer A, Fryssira H, Lees M, Müllner-Eidenböck A, Rimoin DL, Siderius L, Superti-Furga A, Temple K, Willems PJ, Zankl A, Zweier C, De Paepe A, Coucke P, Mortier GR. Hoornaert KP, et al. Among authors: courtens w. J Med Genet. 2006 May;43(5):406-13. doi: 10.1136/jmg.2005.035717. Epub 2005 Sep 9. J Med Genet. 2006. PMID: 16155195 Free PMC article.

4

Interstitial deletion 2q33.3-q34 in a boy with a phenotype resembling the Seckel syndrome.

Courtens W, Speleman F, Messiaen L, Bormans J, Van Roy N, Vamos E. Courtens W, et al. Am J Med Genet. 1997 Sep 5;71(4):479-85. Am J Med Genet. 1997. PMID: 9286460 Review.

5

Noonan-like phenotype in monozygotic twins with a duplication-deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversion.

Courtens W, Grossman D, Van Roy N, Messiaen L, Vamos E, Toppet V, Haumont D, Streydio C, Jauch A, Vermeesch JR, Speleman F. Courtens W, et al. Hum Genet. 1998 Oct;103(4):497-505. doi: 10.1007/s004390050857. Hum Genet. 1998. PMID: 9856497

6

Feingold syndrome: report of a new family and review.

Courtens W, Levi S, Verbelen F, Verloes A, Vamos E. Courtens W, et al. Am J Med Genet. 1997 Nov 28;73(1):55-60. Am J Med Genet. 1997. PMID: 9375923 Review.

7

Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly.

Courtens W, Tjalma W, Messiaen L, Vamos E, Martin JJ, Van Bogaert E, Keersmaekers G, Meulyzer P, Wauters J. Courtens W, et al. Am J Med Genet. 1998 May 18;77(3):188-97. Am J Med Genet. 1998. PMID: 9605585

8

Proximal deletion of chromosome 21 confirmed by in situ hybridization and molecular studies.

Courtens W, Petersen MB, Noël JC, Flament-Durand J, Van Regemorter N, Delneste D, Cochaux P, Verschraegen-Spae MR, Van Roy N, Speleman F, et al. Courtens W, et al. Am J Med Genet. 1994 Jul 1;51(3):260-5. doi: 10.1002/ajmg.1320510318. Am J Med Genet. 1994. PMID: 8074156 Review.

9

An interstitial deletion of chromosome 7 at band q21: a case report and review.

Courtens W, Vermeulen S, Wuyts W, Messiaen L, Wauters J, Nuytinck L, Peeters N, Storm K, Speleman F, Nöthen MM. Courtens W, et al. Am J Med Genet A. 2005 Apr 1;134A(1):12-23. doi: 10.1002/ajmg.a.30106. Am J Med Genet A. 2005. PMID: 15732063 Review.

10

Unilateral bowing of long bones and multiple congenital anomalies in a child born to a mother with gestational diabetes.

Courtens W, De laet C, Ziereisen F, Vamos E, Mortier G. Courtens W, et al. Ann Genet. 2000 Apr-Jun;43(2):81-8. doi: 10.1016/s0003-3995(00)01020-0. Ann Genet. 2000. PMID: 10998449

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