Wuyts W - Search Results

1

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.

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 mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna.

Wuyts W, Reardon W, Preis S, Homfray T, Rasore-Quartino A, Christians H, Willems PJ, Van Hul W. Wuyts W, et al. Hum Mol Genet. 2000 May 1;9(8):1251-5. doi: 10.1093/hmg/9.8.1251. Hum Mol Genet. 2000. PMID: 10767351

4

Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease.

Hocking LJ, Lucas GJ, Daroszewska A, Mangion J, Olavesen M, Cundy T, Nicholson GC, Ward L, Bennett ST, Wuyts W, Van Hul W, Ralston SH. Hocking LJ, et al. Among authors: wuyts w. Hum Mol Genet. 2002 Oct 15;11(22):2735-9. doi: 10.1093/hmg/11.22.2735. Hum Mol Genet. 2002. PMID: 12374763

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

Prenatal diagnosis of Pfeiffer syndrome type II.

Blaumeiser B, Loquet P, Wuyts W, Nöthen MM. Blaumeiser B, et al. Among authors: wuyts w. Prenat Diagn. 2004 Aug;24(8):644-6. doi: 10.1002/pd.960. Prenat Diagn. 2004. PMID: 15305355

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

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.

9

Isolated terminal limb reduction defects: extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations.

Isrie M, Wuyts W, Van Esch H, Devriendt K. Isrie M, et al. Among authors: wuyts w. Am J Med Genet A. 2014 Jun;164A(6):1576-9. doi: 10.1002/ajmg.a.36486. Epub 2014 Mar 25. Am J Med Genet A. 2014. PMID: 24668619

10

DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.

Sukalo M, Tilsen F, Kayserili H, Müller D, Tüysüz B, Ruddy DM, Wakeling E, Ørstavik KH, Snape KM, Trembath R, De Smedt M, van der Aa N, Skalej M, Mundlos S, Wuyts W, Southgate L, Zenker M. Sukalo M, et al. Among authors: wuyts w. Hum Mutat. 2015 Jun;36(6):593-8. doi: 10.1002/humu.22795. Epub 2015 Apr 21. Hum Mutat. 2015. PMID: 25824905

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

365 results

Search Page

Filters