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The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans.
Vajo Z, Francomano CA, Wilkin DJ. Vajo Z, et al. Among authors: wilkin dj. Endocr Rev. 2000 Feb;21(1):23-39. doi: 10.1210/edrv.21.1.0387. Endocr Rev. 2000. PMID: 10696568 Review.
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: wilkin dj. Nat Genet. 1995 Mar;9(3):321-8. doi: 10.1038/ng0395-321. Nat Genet. 1995. PMID: 7773297
Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome.
Wilkin DJ, Szabo JK, Cameron R, Henderson S, Bellus GA, Mack ML, Kaitila I, Loughlin J, Munnich A, Sykes B, Bonaventure J, Francomano CA. Wilkin DJ, et al. Am J Hum Genet. 1998 Sep;63(3):711-6. doi: 10.1086/302000. Am J Hum Genet. 1998. PMID: 9718331 Free PMC article.
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis.
Gong Y, Krakow D, Marcelino J, Wilkin D, Chitayat D, Babul-Hirji R, Hudgins L, Cremers CW, Cremers FP, Brunner HG, Reinker K, Rimoin DL, Cohn DH, Goodman FR, Reardon W, Patton M, Francomano CA, Warman ML. Gong Y, et al. Nat Genet. 1999 Mar;21(3):302-4. doi: 10.1038/6821. Nat Genet. 1999. PMID: 10080184
Mutations of CTSK result in pycnodysostosis via a reduction in cathepsin K protein.
Ho N, Punturieri A, Wilkin D, Szabo J, Johnson M, Whaley J, Davis J, Clark A, Weiss S, Francomano C. Ho N, et al. J Bone Miner Res. 1999 Oct;14(10):1649-53. doi: 10.1359/jbmr.1999.14.10.1649. J Bone Miner Res. 1999. PMID: 10491211
Bone dysplasias in man: molecular insights.
Francomano CA, McIntosh I, Wilkin DJ. Francomano CA, et al. Among authors: wilkin dj. Curr Opin Genet Dev. 1996 Jun;6(3):301-8. doi: 10.1016/s0959-437x(96)80006-2. Curr Opin Genet Dev. 1996. PMID: 8791509 Review.
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. Am J Med Genet. 1999 Jul 16;85(2):105-12. Am J Med Genet. 1999. PMID: 10406661
A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia.
Wilkin DJ, Bogaert R, Lachman RS, Rimoin DL, Eyre DR, Cohn DH. Wilkin DJ, et al. Hum Mol Genet. 1994 Nov;3(11):1999-2003. doi: 10.1093/hmg/3.11.1999. Hum Mol Genet. 1994. PMID: 7874117
Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: analysis of potential premature termination codons.
Wilkin DJ, Liberfarb R, Davis J, Levy HP, Cole WG, Francomano CA, Cohn DH. Wilkin DJ, et al. Am J Med Genet. 2000 Sep 11;94(2):141-8. doi: 10.1002/1096-8628(20000911)94:2<141::aid-ajmg6>;2-a. Am J Med Genet. 2000. PMID: 10982970
Correlation of linkage data with phenotype in eight families with Stickler syndrome.
Wilkin DJ, Mortier GR, Johnson CL, Jones MC, de Paepe A, Shohat M, Wildin RS, Falk RE, Cohn DH. Wilkin DJ, et al. Am J Med Genet. 1998 Nov 2;80(2):121-7. Am J Med Genet. 1998. PMID: 9805127
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