Wilcox WR - Search Results

1

Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome.

Braverman N, Lin P, Moebius FF, Obie C, Moser A, Glossmann H, Wilcox WR, Rimoin DL, Smith M, Kratz L, Kelley RI, Valle D. Braverman N, et al. Among authors: wilcox wr. Nat Genet. 1999 Jul;22(3):291-4. doi: 10.1038/10357. Nat Genet. 1999. PMID: 10391219

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

Gracile bone dysplasia.

Thomas JA, Rimoin DL, Lachman RS, Wilcox WR. Thomas JA, et al. Among authors: wilcox wr. Am J Med Genet. 1998 Jan 6;75(1):95-100. Am J Med Genet. 1998. PMID: 9450865

4

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

5

Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes.

Krakow D, Salazar D, Wilcox WR, Rimoin DL, Cohn DH. Krakow D, et al. Among authors: wilcox wr. Eur J Hum Genet. 2000 Aug;8(8):645-8. doi: 10.1038/sj.ejhg.5200507. Eur J Hum Genet. 2000. PMID: 10951528

6

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.

Tavormina PL, Shiang R, Thompson LM, Zhu YZ, Wilkin DJ, Lachman RS, Wilcox WR, Rimoin DL, Cohn DH, Wasmuth JJ. Tavormina PL, et al. Among authors: wilcox wr. Nat Genet. 1995 Mar;9(3):321-8. doi: 10.1038/ng0395-321. Nat Genet. 1995. PMID: 7773297

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

Oto-palato-digital syndrome, type II: report of three cases with further delineation of the chondro-osseous morphology.

Savarirayan R, Cormier-Daire V, Unger S, Lachman RS, Roughley PJ, Wagner SF, Rimoin DL, Wilcox WR. Savarirayan R, et al. Among authors: wilcox wr. Am J Med Genet. 2000 Nov 27;95(3):193-200. Am J Med Genet. 2000. PMID: 11102922

9

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.

10

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.

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