Wilcox WR - Search Results

1

Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.

Hästbacka J, Superti-Furga A, Wilcox WR, Rimoin DL, Cohn DH, Lander ES. Hästbacka J, et al. Among authors: wilcox wr. Am J Hum Genet. 1996 Feb;58(2):255-62. Am J Hum Genet. 1996. PMID: 8571951 Free PMC article.

2

Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene.

Superti-Furga A, Hästbacka J, Wilcox WR, Cohn DH, van der Harten HJ, Rossi A, Blau N, Rimoin DL, Steinmann B, Lander ES, Gitzelmann R. Superti-Furga A, et al. Among authors: wilcox wr. Nat Genet. 1996 Jan;12(1):100-2. doi: 10.1038/ng0196-100. Nat Genet. 1996. PMID: 8528239 No abstract available.

3

Sulfate transport in chondrodysplasia.

Hästbacka J, Superti-Furga A, Wilcox WR, Rimoin DL, Cohn DH, Lander ES. Hästbacka J, et al. Among authors: wilcox wr. Ann N Y Acad Sci. 1996 Jun 8;785:131-6. doi: 10.1111/j.1749-6632.1996.tb56251.x. Ann N Y Acad Sci. 1996. PMID: 8702119 Review. No abstract available.

4

A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691-->Arg) in the type II collagen trimer.

Mortier GR, Wilkin DJ, Wilcox WR, Rimoin DL, Lachman RS, Eyre DR, Cohn DH. Mortier GR, et al. Among authors: wilcox wr. Hum Mol Genet. 1995 Feb;4(2):285-8. doi: 10.1093/hmg/4.2.285. Hum Mol Genet. 1995. PMID: 7757081

5

Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia.

Bogaert R, Wilkin D, Wilcox WR, Lachman R, Rimoin D, Cohn DH, Eyre DR. Bogaert R, et al. Among authors: wilcox wr. Am J Hum Genet. 1994 Dec;55(6):1128-36. Am J Hum Genet. 1994. PMID: 7977371 Free PMC article.

6

A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycans.

Superti-Furga A, Hästbacka J, Rossi A, van der Harten JJ, Wilcox WR, Cohn DH, Rimoin DL, Steinmann B, Lander ES, Gitzelmann R. Superti-Furga A, et al. Among authors: wilcox wr. Ann N Y Acad Sci. 1996 Jun 8;785:195-201. doi: 10.1111/j.1749-6632.1996.tb56259.x. Ann N Y Acad Sci. 1996. PMID: 8702127 Review. No abstract available.

7

Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.

Briggs MD, Mortier GR, Cole WG, King LM, Golik SS, Bonaventure J, Nuytinck L, De Paepe A, Leroy JG, Biesecker L, Lipson M, Wilcox WR, Lachman RS, Rimoin DL, Knowlton RG, Cohn DH. Briggs MD, et al. Among authors: wilcox wr. Am J Hum Genet. 1998 Feb;62(2):311-9. doi: 10.1086/301713. Am J Hum Genet. 1998. PMID: 9463320 Free PMC article.

8

Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: relationship to clinical severity and indications on the role of intracellular sulfate production.

Rossi A, Kaitila I, Wilcox WR, Rimoin DL, Steinmann B, Cetta G, Superti-Furga A. Rossi A, et al. Among authors: wilcox wr. Matrix Biol. 1998 Oct;17(5):361-9. doi: 10.1016/s0945-053x(98)90088-9. Matrix Biol. 1998. PMID: 9822202

9

Radiographic and morphologic findings in a previously undescribed type of mesomelic dysplasia resembling atelosteogenesis type II.

Brodie SG, Lachman RS, Crandall BF, Fox MA, Rimoin DL, Cohn DH, Wilcox WR. Brodie SG, et al. Among authors: wilcox wr. Am J Med Genet. 1998 Nov 16;80(3):247-51. Am J Med Genet. 1998. PMID: 9843047

10

Small deletions in the type II collagen triple helix produce kniest dysplasia.

Wilkin DJ, Artz AS, South S, Lachman RS, Rimoin DL, Wilcox WR, McKusick VA, Stratakis CA, Francomano CA, Cohn DH. Wilkin DJ, et al. Among authors: wilcox wr. Am J Med Genet. 1999 Jul 16;85(2):105-12. Am J Med Genet. 1999. PMID: 10406661

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