Wuyts W - Search Results

1

Adams-Oliver syndrome caused by mutations of the EOGT gene.

Schröder KC, Duman D, Tekin M, Schanze D, Sukalo M, Meester J, Wuyts W, Zenker M. Schröder KC, et al. Among authors: wuyts w. Am J Med Genet A. 2019 Nov;179(11):2246-2251. doi: 10.1002/ajmg.a.61313. Epub 2019 Jul 31. Am J Med Genet A. 2019. PMID: 31368252

2

Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.

Wuyts W, Van Hul W, De Boulle K, Hendrickx J, Bakker E, Vanhoenacker F, Mollica F, Lüdecke HJ, Sayli BS, Pazzaglia UE, Mortier G, Hamel B, Conrad EU, Matsushita M, Raskind WH, Willems PJ. Wuyts W, et al. Am J Hum Genet. 1998 Feb;62(2):346-54. doi: 10.1086/301726. Am J Hum Genet. 1998. PMID: 9463333 Free PMC article.

3

Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease.

Balemans W, Patel N, Ebeling M, Van Hul E, Wuyts W, Lacza C, Dioszegi M, Dikkers FG, Hildering P, Willems PJ, Verheij JB, Lindpaintner K, Vickery B, Foernzler D, Van Hul W. Balemans W, et al. Among authors: wuyts w. J Med Genet. 2002 Feb;39(2):91-7. doi: 10.1136/jmg.39.2.91. J Med Genet. 2002. PMID: 11836356 Free PMC article.

4

Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion.

Wuyts W, Roland D, Lüdecke HJ, Wauters J, Foulon M, Van Hul W, Van Maldergem L. Wuyts W, et al. Am J Med Genet. 2002 Dec 15;113(4):326-32. doi: 10.1002/ajmg.10845. Am J Med Genet. 2002. PMID: 12457403

5

Clinical and molecular analysis of nine families with Adams-Oliver syndrome.

Verdyck P, Holder-Espinasse M, Hul WV, Wuyts W. Verdyck P, et al. Among authors: wuyts w. Eur J Hum Genet. 2003 Jun;11(6):457-63. doi: 10.1038/sj.ejhg.5200980. Eur J Hum Genet. 2003. PMID: 12774039

6

Somatic and gonadal mosaicism in Hutchinson-Gilford progeria.

Wuyts W, Biervliet M, Reyniers E, D'Apice MR, Novelli G, Storm K. Wuyts W, et al. Am J Med Genet A. 2005 May 15;135(1):66-8. doi: 10.1002/ajmg.a.30663. Am J Med Genet A. 2005. PMID: 15793835

7

Adams-Oliver syndrome: clinical description of a four-generation family and exclusion of five candidate genes.

Verdyck P, Blaumeiser B, Holder-Espinasse M, Van Hul W, Wuyts W. Verdyck P, et al. Among authors: wuyts w. Clin Genet. 2006 Jan;69(1):86-92. doi: 10.1111/j.1399-0004.2006.00552.x. Clin Genet. 2006. PMID: 16451141

8

Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review.

Courtens W, Wuyts W, Poot M, Szuhai K, Wauters J, Reyniers E, Eleveld M, Diaz G, Nöthen MM, Parvari R. Courtens W, et al. Among authors: wuyts w. Am J Med Genet A. 2006 Mar 15;140(6):611-7. doi: 10.1002/ajmg.a.31122. Am J Med Genet A. 2006. PMID: 16470743 Review.

9

The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects.

Snape KM, Ruddy D, Zenker M, Wuyts W, Whiteford M, Johnson D, Lam W, Trembath RC. Snape KM, et al. Among authors: wuyts w. Am J Med Genet A. 2009 Aug;149A(8):1860-81. doi: 10.1002/ajmg.a.32708. Am J Med Genet A. 2009. PMID: 19610107 Review.

10

Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.

Southgate L, Machado RD, Snape KM, Primeau M, Dafou D, Ruddy DM, Branney PA, Fisher M, Lee GJ, Simpson MA, He Y, Bradshaw TY, Blaumeiser B, Winship WS, Reardon W, Maher ER, FitzPatrick DR, Wuyts W, Zenker M, Lamarche-Vane N, Trembath RC. Southgate L, et al. Among authors: wuyts w. Am J Hum Genet. 2011 May 13;88(5):574-85. doi: 10.1016/j.ajhg.2011.04.013. Am J Hum Genet. 2011. PMID: 21565291 Free PMC article.

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