Wilcox W - Search Results

1

Dysregulation of chondrogenesis in human cleidocranial dysplasia.

Zheng Q, Sebald E, Zhou G, Chen Y, Wilcox W, Lee B, Krakow D. Zheng Q, et al. Among authors: wilcox w. Am J Hum Genet. 2005 Aug;77(2):305-12. doi: 10.1086/432261. Epub 2005 Jun 10. Am J Hum Genet. 2005. PMID: 15952089 Free PMC article.

2

Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.

Tompson SW, Bacino CA, Safina NP, Bober MB, Proud VK, Funari T, Wangler MF, Nevarez L, Ala-Kokko L, Wilcox WR, Eyre DR, Krakow D, Cohn DH. Tompson SW, et al. Among authors: wilcox wr. Am J Hum Genet. 2010 Nov 12;87(5):708-12. doi: 10.1016/j.ajhg.2010.10.009. Epub 2010 Oct 28. Am J Hum Genet. 2010. PMID: 21035103 Free PMC article.

3

Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia.

Wilcox WR, Tavormina PL, Krakow D, Kitoh H, Lachman RS, Wasmuth JJ, Thompson LM, Rimoin DL. Wilcox WR, et al. Am J Med Genet. 1998 Jul 7;78(3):274-81. doi: 10.1002/(sici)1096-8628(19980707)78:3<274::aid-ajmg14>3.0.co;2-c. Am J Med Genet. 1998. PMID: 9677066

4

Fibroblast growth factors 1, 2, 17, and 19 are the predominant FGF ligands expressed in human fetal growth plate cartilage.

Krejci P, Krakow D, Mekikian PB, Wilcox WR. Krejci P, et al. Pediatr Res. 2007 Mar;61(3):267-72. doi: 10.1203/pdr.0b013e318030d157. Pediatr Res. 2007. PMID: 17314681

5

BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing.

Funari VA, Krakow D, Nevarez L, Chen Z, Funari TL, Vatanavicharn N, Wilcox WR, Rimoin DL, Nelson SF, Cohn DH. Funari VA, et al. Am J Hum Genet. 2010 Oct 8;87(4):532-7. doi: 10.1016/j.ajhg.2010.08.015. Am J Hum Genet. 2010. PMID: 20869035 Free PMC article.

6

Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.

Merrill AE, Sarukhanov A, Krejci P, Idoni B, Camacho N, Estrada KD, Lyons KM, Deixler H, Robinson H, Chitayat D, Curry CJ, Lachman RS, Wilcox WR, Krakow D. Merrill AE, et al. Am J Hum Genet. 2012 Mar 9;90(3):550-7. doi: 10.1016/j.ajhg.2012.02.005. Epub 2012 Mar 1. Am J Hum Genet. 2012. PMID: 22387015 Free PMC article.

7

Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges.

Krakow D, Cohn DH, Wilcox WR, Noh GJ, Raffel LJ, Sarukhanov A, Ivanova MH, Danielpour M, Grange DK, Elliott AM, Bernstein JA, Rimoin DL, Merrill AE, Lachman RS. Krakow D, et al. Am J Med Genet A. 2016 Oct;170(10):2652-61. doi: 10.1002/ajmg.a.37772. Epub 2016 May 30. Am J Med Genet A. 2016. PMID: 27240702 Free PMC article.

8

A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1).

Lee H, Nevarez L, Lachman RS, Wilcox WR, Krakow D, Cohn DH; University of Washington Center for Mendelian Genomics. Lee H, et al. Am J Med Genet A. 2015 Oct;167A(10):2470-3. doi: 10.1002/ajmg.a.37173. Epub 2015 May 22. Am J Med Genet A. 2015. PMID: 25997753 Free PMC article. No abstract available.

9

The skeletal dysplasias: clinical-molecular correlations.

Rimoin DL, Cohn D, Krakow D, Wilcox W, Lachman RS, Alanay Y. Rimoin DL, et al. Among authors: wilcox w. Ann N Y Acad Sci. 2007 Nov;1117:302-9. doi: 10.1196/annals.1402.072. Ann N Y Acad Sci. 2007. PMID: 18056050 Review.

10

Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.

Colige A, Sieron AL, Li SW, Schwarze U, Petty E, Wertelecki W, Wilcox W, Krakow D, Cohn DH, Reardon W, Byers PH, Lapière CM, Prockop DJ, Nusgens BV. Colige A, et al. Among authors: wilcox w. Am J Hum Genet. 1999 Aug;65(2):308-17. doi: 10.1086/302504. Am J Hum Genet. 1999. PMID: 10417273 Free PMC article.

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